Name

CHDT3 Gene

Congenital heart defects, multiple types, 3

FRA7A Gene

fragile site, folic acid type, rare, fra(7)(p11.2)

FRA10A Gene

fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2)

FRA2B Gene

fragile site, folic acid type, rare, fra(2)(q13)

FRA2A Gene

fragile site, folic acid type, rare, fra(2)(q11.2)

FRA2K Gene

fragile site, folic acid type, rare, fra(2)(q22.3)

FRA5G Gene

fragile site, folic acid type, rare, fra(5)(q35)

FRA16A Gene

fragile site, folic acid type, rare, fra(16)(p13.11)

There are several phenotypes associated with variation in pericentric region of chromosome 16: see the 16p12.2-p11.2 deletion syndrome (MIM 613604); see MIM 611913 for a deletion or duplication at 16p11.2 associated with autism (AUTS14); and see MIM 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.[supplied by OMIM, Nov 2010]

FRA8A Gene

fragile site, folic acid type, rare, fra(8)(q22.3)

FRA10AC1 Gene

fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1

The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Mar 2010]

FRA22A Gene

fragile site, folic acid type, rare, fra(22)(q13)

FRAXE Gene

fragile site, folic acid type, rare, fra(X)(q28) E

FRAXA Gene

fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)

FRA6A Gene

fragile site, folic acid type, rare, fra(6)(p23)

FRA11A Gene

fragile site, folic acid type, rare, fra(11)(q13.3)

FRA1M Gene

fragile site, folic acid type, rare, fra(1)(p21.3)

FRA19B Gene

fragile site, folic acid type, rare, fra(19)(p13)

FRA20A Gene

fragile site, folic acid type, rare, fra(20)(p11.23)

FRA9B Gene

fragile site, folic acid type, rare, fra(9)(q32)

FRA9A Gene

fragile site, folic acid type, rare, fra(9)(p21)

FRA12A Gene

fragile site, folic acid type, rare, fra(12)(q13.1)

FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000 [PubMed 10955484]). However, mental retardation with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007).[supplied by OMIM, Mar 2008]

FRA12D Gene

fragile site, folic acid type, rare, fra(12)(q24.13)

FABP3 Gene

fatty acid binding protein 3, muscle and heart

The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. [provided by RefSeq, Jul 2008]

LATD Gene

Laterality defects, autosomal dominant

ODPF Gene

Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula

MMAA Gene

methylmalonic aciduria (cobalamin deficiency) cblA type

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

MMAB Gene

methylmalonic aciduria (cobalamin deficiency) cblB type

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

SHFLD3 Gene

Split-hand/foot malformation with long bone deficiency 3

GCCD2 Gene

Glucocorticoid deficiency 2

GCCD3 Gene

glucocorticoid deficiency 3

IGAD1 Gene

immunoglobulin A (IgA) deficiency susceptibility 1

MMACHC Gene

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

SHFLD2 Gene

Split-hand/foot malformation with long deficiency 2

MMADHC Gene

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

AGMX2 Gene

agammaglobulinemia, X-linked 2 (with growth hormone deficiency)

RRDX Gene

Radial ray deficiency

MCFD2P1 Gene

multiple coagulation factor deficiency 2 pseudogene 1

SHFL1 Gene

Split-hand/foot malformation with long bone deficiency 1

LOC100216356 Gene

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene

LOC100216355 Gene

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene

CANDN1 Gene

candidiasis, nail 1 (with ICAM1 deficiency)

MCFD2 Gene

multiple coagulation factor deficiency 2

This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]

NKCD Gene

Natural killer cell deficiency, familial isolated

HRTRT1 Gene

Heart rate QTL 1

HAND2 Gene

heart and neural crest derivatives expressed 2

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]

PFHB2 Gene

Progressive familial heart block, type II

HEG1 Gene

heart development protein with EGF-like domains 1

HBN1 Gene

Progressive familial heart block, type I, locus 1

CHDS4 Gene

Coronary heart disease, susceptibility to, 4

HAND1 Gene

heart and neural crest derivatives expressed 1

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]

LBH Gene

limb bud and heart development

CHDS3 Gene

Coronary heart disease, susceptibility to, 3

CHDS2 Gene

Coronary heart disease, susceptibility to, 2

CHDS1 Gene

Coronary heart disease, susceptibility to, 1

CHDS9 Gene

Coronary heart disease, suscpetibility to, 9

CHDS8 Gene

Coronary heart disease, susceptibility to, 8

BAATP1 Gene

bile acid CoA: amino acid N-acyltransferase pseudogene 1

BAAT Gene

bile acid CoA:amino acid N-acyltransferase

The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MCOPCT1 Gene

cataract, congenital, with microphthalmia

CFTDX Gene

Myopathy, congenital, with fiber-type disproportion, X-linked

NPHS1 Gene

nephrosis 1, congenital, Finnish type (nephrin)

This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]

CTRCT37 Gene

Cataract, congenital cerulean type, 5

CTRCT34 Gene

Cataract, autosomal recessive congenital 3

CTRCT35 Gene

cataract, congenital nuclear, autosomal recessive

BSCL2 Gene

Berardinelli-Seip congenital lipodystrophy 2 (seipin)

This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]

HTC1 Gene

hypertrichosis 1 (universalis, congenital)

HTC2 Gene

hypertrichosis 2 (generalized, congenital)

RNANC Gene

Retinal nonattachment, nonsyndromic congenital

NHS Gene

Nance-Horan syndrome (congenital cataracts and dental anomalies)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

MDC1B Gene

Muscular dystrophy, congenital, 1B

CDAN3 Gene

congenital dyserythropoietic anemia, type III

LCA5L Gene

Leber congenital amaurosis 5-like

NDNC9 Gene

Nail disorder, nonsyndromic congenital, 9

NYS2 Gene

nystagmus 2, congenital autosomal dominant

NYS3 Gene

nystagmus 3, congenital autosomal dominant

NYS7 Gene

Nystagmus 7, congenital

NYS4 Gene

nystagmus 4, congenital autosomal dominant

NDIC Gene

Nail dysplasia, isolated congenital

CTRCT27 Gene

Cataract, congenital, nuclear progressive

PTOS2 Gene

Ptosis, hereditary congenital 2

PTOS1 Gene

ptosis, congenital 1 (autosomal dominant)

GLC3C Gene

glaucoma 3, primary congenital, C

SMAL Gene

spinal muscular atrophy, congenital nonprogressive, of lower limbs

ANIC Gene

Anosmia, isolated congenital

MDCMP Gene

muscular dystrophy, congenital, merosin-positive

CHNG3 Gene

Hypothyroidism, congenital, nongoitrous, 3

LCA5 Gene

Leber congenital amaurosis 5

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

CCA1 Gene

cataract, congenital, cerulean type, 1

CCT Gene

cataract, congenital, total

CCV Gene

cataract, congenital, Volkmann type

MCOR Gene

microcoria, congenital

DIH2 Gene

Hernia, congenital diaphragmatic 2

ARCI9 Gene

Ichthyosis, congenital, autosomal recessive 9

ARCI7 Gene

Ichthyosis, congenital, autosomal recessive 7

PAFC Gene

Preauricular fistulae, congenital

SLC36A4 Gene

solute carrier family 36 (proton/amino acid symporter), member 4

SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]

SLC36A1 Gene

solute carrier family 36 (proton/amino acid symporter), member 1

This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

REREP3 Gene

arginine-glutamic acid dipeptide (RE) repeats pseudogene 3

LPAR1 Gene

lysophosphatidic acid receptor 1

The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Two transcript variants encoding the same protein have been identified for this gene [provided by RefSeq, Jul 2008]

SLC36A2 Gene

solute carrier family 36 (proton/amino acid symporter), member 2

This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]

SMPD1 Gene

sphingomyelin phosphodiesterase 1, acid lysosomal

The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

SIGLEC27P Gene

sialic acid binding Ig-like lectin 27, pseudogene

GABBR1 Gene

gamma-aminobutyric acid (GABA) B receptor, 1

Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jun 2009]

SLC7A6 Gene

solute carrier family 7 (amino acid transporter light chain, y+L system), member 6

SLC7A1 Gene

solute carrier family 7 (cationic amino acid transporter, y+ system), member 1

LOC100271656 Gene

N-acetylneuraminic acid phosphatase pseudogene

CRABP1 Gene

cellular retinoic acid binding protein 1

This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008]

DAOA Gene

D-amino acid oxidase activator

This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]

LIAS Gene

lipoic acid synthetase

The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

SIGLEC30P Gene

sialic acid binding Ig-like lectin 30, pseudogene

STRA6 Gene

stimulated by retinoic acid 6

The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

SIGLEC16 Gene

sialic acid binding Ig-like lectin 16 (gene/pseudogene)

SIGLEC14 Gene

sialic acid binding Ig-like lectin 14

SIGLEC15 Gene

sialic acid binding Ig-like lectin 15

SIGLEC12 Gene

sialic acid binding Ig-like lectin 12 (gene/pseudogene)

Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SIGLEC10 Gene

sialic acid binding Ig-like lectin 10

SIGLECs are members of the immunoglobulin superfamily that are expressed on the cell surface. Most SIGLECs have 1 or more cytoplasmic immune receptor tyrosine-based inhibitory motifs, or ITIMs. SIGLECs are typically expressed on cells of the innate immune system, with the exception of the B-cell expressed SIGLEC6 (MIM 604405).[supplied by OMIM, Jul 2002]

SIGLEC11 Gene

sialic acid binding Ig-like lectin 11

This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

CNBP Gene

CCHC-type zinc finger, nucleic acid binding protein

This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SLC23A2 Gene

solute carrier family 23 (ascorbic acid transporter), member 2

The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]

GBAP1 Gene

glucosidase, beta, acid pseudogene 1

LOC100128407 Gene

N-acetylneuraminic acid phosphatase pseudogene

FAAHP1 Gene

fatty acid amide hydrolase pseudogene 1

SIGLEC22P Gene

sialic acid binding Ig-like lectin 22, pseudogene

LOC100130747 Gene

N-acetylneuraminic acid phosphatase pseudogene

FABP7P2 Gene

fatty acid binding protein 7, brain pseudogene 2

FABP7P1 Gene

fatty acid binding protein 7, brain pseudogene 1

TRNAE-UUC Gene

transfer RNA glutamic acid (anticodon UUC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

GABRR1 Gene

gamma-aminobutyric acid (GABA) A receptor, rho 1

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

GABRR2 Gene

gamma-aminobutyric acid (GABA) A receptor, rho 2

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA receptor complex. [provided by RefSeq, Jul 2008]

GABRR3 Gene

gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)

The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]

FASN Gene

fatty acid synthase

The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]

SLC6A17 Gene

solute carrier family 6 (neutral amino acid transporter), member 17

The SLC6 family of proteins, which includes SLC6A17, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Mar 2008]

SLC6A15 Gene

solute carrier family 6 (neutral amino acid transporter), member 15

This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

SLC6A14 Gene

solute carrier family 6 (amino acid transporter), member 14

This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.[provided by RefSeq, May 2010]

IGFALS Gene

insulin-like growth factor binding protein, acid labile subunit

The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

SLC7A9 Gene

solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

RARA Gene

retinoic acid receptor, alpha

This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]

RARB Gene

retinoic acid receptor, beta

This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]

RARG Gene

retinoic acid receptor, gamma

This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

GABRB1 Gene

gamma-aminobutyric acid (GABA) A receptor, beta 1

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]

GABRB3 Gene

gamma-aminobutyric acid (GABA) A receptor, beta 3

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

NANP Gene

N-acetylneuraminic acid phosphatase

NANS Gene

N-acetylneuraminic acid synthase

This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]

CRABP2 Gene

cellular retinoic acid binding protein 2

This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010]

RAI1 Gene

retinoic acid induced 1

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]

SIGLEC25P Gene

sialic acid binding Ig-like lectin 25, pseudogene

FAAH2 Gene

fatty acid amide hydrolase 2

This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate.[provided by RefSeq, Sep 2009]

GBA2 Gene

glucosidase, beta (bile acid) 2

This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]

GBA3 Gene

glucosidase, beta, acid 3 (gene/pseudogene)

The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]

GABRQ Gene

gamma-aminobutyric acid (GABA) A receptor, theta

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. This gene location is also the candidate region of two different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3). [provided by RefSeq, Nov 2009]

GABRP Gene

gamma-aminobutyric acid (GABA) A receptor, pi

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

GABRE Gene

gamma-aminobutyric acid (GABA) A receptor, epsilon

The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]

GABRD Gene

gamma-aminobutyric acid (GABA) A receptor, delta

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

TRDMT1 Gene

tRNA aspartic acid methyltransferase 1

This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]

HCAR3 Gene

hydroxycarboxylic acid receptor 3

HCAR2 Gene

hydroxycarboxylic acid receptor 2

HCAR1 Gene

hydroxycarboxylic acid receptor 1

G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Feb 2005]

CSAD Gene

cysteine sulfinic acid decarboxylase

This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

SLC27A5 Gene

solute carrier family 27 (fatty acid transporter), member 5

The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]

SLC27A4 Gene

solute carrier family 27 (fatty acid transporter), member 4

This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]

SLC27A6 Gene

solute carrier family 27 (fatty acid transporter), member 6

This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

SLC27A3 Gene

solute carrier family 27 (fatty acid transporter), member 3

SLC27A2 Gene

solute carrier family 27 (fatty acid transporter), member 2

The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

LPAR2 Gene

lysophosphatidic acid receptor 2

This gene encodes a member of family I of the G protein-coupled receptors, as well as the EDG family of proteins. This protein functions as a lysophosphatidic acid (LPA) receptor and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, through association with Gi and Gq proteins. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]

LPAR3 Gene

lysophosphatidic acid receptor 3

This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq, Jul 2008]

LPAR6 Gene

lysophosphatidic acid receptor 6

The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

LPAR4 Gene

lysophosphatidic acid receptor 4

This gene encodes a member of the lysophosphatidic acid receptor family. It may also be related to the P2Y receptors, a family of receptors that bind purine and pyrimidine nucleotides and are coupled to G proteins. The encoded protein may play a role in monocytic differentiation. [provided by RefSeq, Feb 2009]

LPAR5 Gene

lysophosphatidic acid receptor 5

This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008]

SLC7A8 Gene

solute carrier family 7 (amino acid transporter light chain, L system), member 8

SLC7A7 Gene

solute carrier family 7 (amino acid transporter light chain, y+L system), member 7

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

SLC7A5 Gene

solute carrier family 7 (amino acid transporter light chain, L system), member 5

SLC7A2 Gene

solute carrier family 7 (cationic amino acid transporter, y+ system), member 2

The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

SLC7A3 Gene

solute carrier family 7 (cationic amino acid transporter, y+ system), member 3

This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010]

FADS1 Gene

fatty acid desaturase 1

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]

FADS3 Gene

fatty acid desaturase 3

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]

FADS2 Gene

fatty acid desaturase 2

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

FADS6 Gene

fatty acid desaturase 6

FABP5P1 Gene

fatty acid binding protein 5 pseudogene 1

FABP5P3 Gene

fatty acid binding protein 5 pseudogene 3

FABP5P2 Gene

fatty acid binding protein 5 pseudogene 2

FABP5P5 Gene

fatty acid binding protein 5 pseudogene 5

FABP5P4 Gene

fatty acid binding protein 5 pseudogene 4

FABP5P7 Gene

fatty acid binding protein 5 pseudogene 7

FABP5P6 Gene

fatty acid binding protein 5 pseudogene 6

FABP5P9 Gene

fatty acid binding protein 5 pseudogene 9

FABP5P8 Gene

fatty acid binding protein 5 pseudogene 8

GPBAR1 Gene

G protein-coupled bile acid receptor 1

This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

LOC100422417 Gene

solute carrier family 6 (amino acid transporter), member 14 pseudogene

SIGLEC28P Gene

sialic acid binding Ig-like lectin 28, pseudogene

ASAH1 Gene

N-acylsphingosine amidohydrolase (acid ceramidase) 1

This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

LOC105369259 Gene

putative L-type amino acid transporter 1-like protein MLAS

GABRG3 Gene

gamma-aminobutyric acid (GABA) A receptor, gamma 3

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]

GABRG2 Gene

gamma-aminobutyric acid (GABA) A receptor, gamma 2

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GABRG1 Gene

gamma-aminobutyric acid (GABA) A receptor, gamma 1

The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]

SIGLEC20P Gene

sialic acid binding Ig-like lectin 20, pseudogene

GCN1L1 Gene

GCN1 general control of amino-acid synthesis 1-like 1 (yeast)

RARRES2 Gene

retinoic acid receptor responder (tazarotene induced) 2

This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]

RARRES3 Gene

retinoic acid receptor responder (tazarotene induced) 3

Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008]

RARRES1 Gene

retinoic acid receptor responder (tazarotene induced) 1

This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

SIAE Gene

sialic acid acetylesterase

This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]

LOC102723333 Gene

retinoic acid receptor responder protein 2 pseudogene

ATHL1 Gene

ATH1, acid trehalase-like 1 (yeast)

FABP5P15 Gene

fatty acid binding protein 5 pseudogene 15

FABP5P14 Gene

fatty acid binding protein 5 pseudogene 14

FABP5P10 Gene

fatty acid binding protein 5 pseudogene 10

FABP5P12 Gene

fatty acid binding protein 5 pseudogene 12

NABP2 Gene

nucleic acid binding protein 2

Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]

NABP1 Gene

nucleic acid binding protein 1

Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]

SLC27A1 Gene

solute carrier family 27 (fatty acid transporter), member 1

LOC284379 Gene

solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 pseudogene

ATRAID Gene

all-trans retinoic acid-induced differentiation factor

This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009]

SLC10A2 Gene

solute carrier family 10 (sodium/bile acid cotransporter), member 2

This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]

SLC10A6 Gene

solute carrier family 10 (sodium/bile acid cotransporter), member 6

LOC105372490 Gene

sialic acid-binding Ig-like lectin 14

PIPOX Gene

pipecolic acid oxidase

BCAT2 Gene

branched chain amino-acid transaminase 2, mitochondrial

This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

BCAT1 Gene

branched chain amino-acid transaminase 1, cytosolic

This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]

SLC43A2 Gene

solute carrier family 43 (amino acid system L transporter), member 2

System L amino acid transporters, such as SLC43A2, mediate sodium-independent transport of bulky neutral amino acids across cell membranes (Bodoy et al., 2005 [PubMed 15659399]).[supplied by OMIM, Mar 2008]

SLC43A1 Gene

solute carrier family 43 (amino acid system L transporter), member 1

SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]

TRNAE-CUC Gene

transfer RNA glutamic acid (anticodon CUC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

UAQTL6 Gene

Uric acid concentration, serum, QTL6

UAQTL5 Gene

Uric acid concentration, serum, QTL5

UAQTL4 Gene

Uric acid concentration, serum, QTL4

UAQTL3 Gene

Uric acid concentration, serum, QTL3

FABP12 Gene

fatty acid binding protein 12

SIGLEC17P Gene

sialic acid binding Ig-like lectin 17, pseudogene

GBA Gene

glucosidase, beta, acid

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

SLC3A2 Gene

solute carrier family 3 (amino acid transporter heavy chain), member 2

This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]

SLC3A1 Gene

solute carrier family 3 (amino acid transporter heavy chain), member 1

This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

MGARP Gene

mitochondria-localized glutamic acid-rich protein

PPAP2C Gene

phosphatidic acid phosphatase type 2C

The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PPAP2B Gene

phosphatidic acid phosphatase type 2B

The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010]

PPAP2A Gene

phosphatidic acid phosphatase type 2A

The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme is an integral membrane glycoprotein that plays a role in the hydrolysis and uptake of lipids from extracellular space. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

LOC401767 Gene

1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) pseudogene

STRA8 Gene

stimulated by retinoic acid 8

This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010]

BRINP3 Gene

bone morphogenetic protein/retinoic acid inducible neural-specific 3

BRINP2 Gene

bone morphogenetic protein/retinoic acid inducible neural-specific 2

BRINP1 Gene

bone morphogenetic protein/retinoic acid inducible neural-specific 1

This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]

SLC9C1 Gene

solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1

SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009]

PAPL Gene

iron/zinc purple acid phosphatase-like protein

Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]

TRNAD-GUC Gene

transfer RNA aspartic acid (anticodon GUC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

SLC23A1 Gene

solute carrier family 23 (ascorbic acid transporter), member 1

The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

FABP6 Gene

fatty acid binding protein 6, ileal

This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008]

FABP7 Gene

fatty acid binding protein 7, brain

The protein encoded by this gene is a brain fatty acid binding protein. Fatty acid binding proteins (FABPs) are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs are thought to play roles in fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]

FABP4 Gene

fatty acid binding protein 4, adipocyte

FABP4 encodes the fatty acid binding protein found in adipocytes. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]

FABP5 Gene

fatty acid binding protein 5 (psoriasis-associated)

This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this gene are associated with type 2 diabetes. The human genome contains many pseudogenes similar to this locus.[provided by RefSeq, Feb 2011]

FABP2 Gene

fatty acid binding protein 2, intestinal

The intracellular fatty acid-binding proteins (FABPs) belong to a multigene family with nearly twenty identified members. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Intestinal fatty acid-binding protein 2 gene contains four exons and is an abundant cytosolic protein in small intestine epithelial cells. This gene has a polymorphism at codon 54 that identified an alanine-encoding allele and a threonine-encoding allele. Thr-54 protein is associated with increased fat oxidation and insulin resistance. [provided by RefSeq, Jul 2008]

GABRA5 Gene

gamma-aminobutyric acid (GABA) A receptor, alpha 5

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Transcript variants utilizing three different alternative non-coding first exons have been described. [provided by RefSeq, Jul 2008]

GABRA4 Gene

gamma-aminobutyric acid (GABA) A receptor, alpha 4

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]

GABRA6 Gene

gamma-aminobutyric acid (GABA) A receptor, alpha 6

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]

GABRA1 Gene

gamma-aminobutyric acid (GABA) A receptor, alpha 1

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

GABRA3 Gene

gamma-aminobutyric acid (GABA) A receptor, alpha 3

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]

GABRA2 Gene

gamma-aminobutyric acid (GABA) A receptor, alpha 2

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

LOC100422432 Gene

solute carrier family 6 (amino acid transporter), member 14 pseudogene

SIGLEC21P Gene

sialic acid binding Ig-like lectin 21, pseudogene

SIGLEC8 Gene

sialic acid binding Ig-like lectin 8

Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]

SIGLEC9 Gene

sialic acid binding Ig-like lectin 9

SIGLEC5 Gene

sialic acid binding Ig-like lectin 5

This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. The encoded protein is a member of the CD33-related subset of Siglecs and inhibits the activation of several cell types including monocytes, macrophages and neutrophils. Binding of group B Streptococcus (GBS) to the encoded protein plays a role in GBS immune evasion. [provided by RefSeq, Feb 2012]

SIGLEC6 Gene

sialic acid binding Ig-like lectin 6

SIGLEC7 Gene

sialic acid binding Ig-like lectin 7

SIGLEC1 Gene

sialic acid binding Ig-like lectin 1, sialoadhesin

This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. Alternative splicing produces a transcript variant encoding an isoform that is soluble rather than membrane-bound; however, the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]

FFAR4 Gene

free fatty acid receptor 4

This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

RAET1K Gene

retinoic acid early transcript 1K pseudogene

RAET1M Gene

retinoic acid early transcript 1M pseudogene

GLCE Gene

glucuronic acid epimerase

Heparan sulfate (HS) is a negatively charged cell surface polysaccharide required for the biologic activities of circulating extracellular ligands. GLCE is responsible for epimerization of D-glucuronic acid (GlcA) to L-iduronic acid (IdoA) of HS, which endows the nascent polysaccharide chain with the ability to bind growth factors and cytokines (Ghiselli and Agrawal, 2005 [PubMed 15853773]).[supplied by OMIM, Jun 2008]

SIGLEC26P Gene

sialic acid binding Ig-like lectin 26, pseudogene

GABBR2 Gene

gamma-aminobutyric acid (GABA) B receptor, 2

The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]

SIGLEC18P Gene

sialic acid binding Ig-like lectin 18, pseudogene

GAA Gene

glucosidase, alpha; acid

This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

FABP1 Gene

fatty acid binding protein 1, liver

This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Mar 2011]

SLC16A10 Gene

solute carrier family 16 (aromatic amino acid transporter), member 10

SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004]

RAI2 Gene

retinoic acid induced 2

Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked mental retardation, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

SIGLEC31P Gene

sialic acid binding Ig-like lectin 31, pseudogene

SLC7A5P1 Gene

solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 1

This locus represents a transcribed pseudogene of the L-type amino acid transporter 1. [provided by RefSeq, Jul 2008]

SLC7A5P2 Gene

solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2

RAE1 Gene

ribonucleic acid export 1

Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

SIGLEC29P Gene

sialic acid binding Ig-like lectin 29, pseudogene

LOC100422614 Gene

solute carrier family 7 (anionic amino acid transporter), member 13 pseudogene

LOC100422610 Gene

solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 pseudogene

FA2H Gene

fatty acid 2-hydroxylase

This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]

SLC6A19 Gene

solute carrier family 6 (neutral amino acid transporter), member 19

This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008]

SLC6A18 Gene

solute carrier family 6 (neutral amino acid transporter), member 18

The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]

STRA13 Gene

stimulated by retinoic acid 13

LOC101060604 Gene

putative L-type amino acid transporter 1-like protein IMAA

PPAPDC1B Gene

phosphatidic acid phosphatase type 2 domain containing 1B

PPAPDC1A Gene

phosphatidic acid phosphatase type 2 domain containing 1A

FADS2P1 Gene

fatty acid desaturase 2 pseudogene 1

FABP9 Gene

fatty acid binding protein 9, testis

RARRES2P8 Gene

retinoic acid receptor responder (tazarotene induced) 2 pseudogene 8

RARRES2P2 Gene

retinoic acid receptor responder (tazarotene induced) 2 pseudogene 2

RARRES2P1 Gene

retinoic acid receptor responder (tazarotene induced) 2 pseudogene 1

RARRES2P4 Gene

retinoic acid receptor responder (tazarotene induced) 2 pseudogene 4

KAR Gene

Aromatic alpha-keto acid reductase

FFAR2 Gene

free fatty acid receptor 2

This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009]

FFAR3 Gene

free fatty acid receptor 3

RAET1E Gene

retinoic acid early transcript 1E

This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]

RAET1G Gene

retinoic acid early transcript 1G

Members of the RAET1 family, such as RAET1G, are major histocompatibility complex (MHC) class I-related genes located within a 180-kb cluster on chromosome 6q24.2-q25.3. RAET1 proteins contain MHC class I-like alpha-1 and alpha-2 domains. RAET1E (MIM 609243) and RAET1G differ from the other RAET1 proteins (e.g., RAET1I, or ULBP1; MIM 605697) in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008]

RAET1F Gene

retinoic acid early transcript 1F pseudogene

RAET1L Gene

retinoic acid early transcript 1L

RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008]

SMPDL3B Gene

sphingomyelin phosphodiesterase, acid-like 3B

SMPDL3A Gene

sphingomyelin phosphodiesterase, acid-like 3A

LIPA Gene

lipase A, lysosomal acid, cholesterol esterase

This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]

LIPB Gene

lipase B, lysosomal acid

GABRB2 Gene

gamma-aminobutyric acid (GABA) A receptor, beta 2

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]

NARR Gene

nine-amino acid residue-repeats

LOC100462652 Gene

solute carrier family 6 (amino acid transporter), member 14 pseudogene

DAO Gene

D-amino-acid oxidase

This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]

PRRG4 Gene

proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)

PRRG1 Gene

proline rich Gla (G-carboxyglutamic acid) 1

This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

PRRG2 Gene

proline rich Gla (G-carboxyglutamic acid) 2

PRRG3 Gene

proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)

This gene encodes a protein which contains a vitamin K-dependent carboxylation/gamma-carboxyglutamic domain. The encoded protein is a member of a family of vitamin K-dependent transmembrane proteins which contain a glutamate-rich extracellular domain. [provided by RefSeq, Aug 2011]

ACP5 Gene

acid phosphatase 5, tartrate resistant

This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]

ACP6 Gene

acid phosphatase 6, lysophosphatidic

ACP1 Gene

acid phosphatase 1, soluble

The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]

ACP2 Gene

acid phosphatase 2, lysosomal

This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. LAP-deficiencies in mice cause multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. An enzymatically-inactive allele of LAP in mice exhibited a more severe phenotype than the null allele, and defects included cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

ACPT Gene

acid phosphatase, testicular

Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

ACPP Gene

acid phosphatase, prostate

This gene encodes an enzyme that catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is synthesized under androgen regulation and is secreted by the epithelial cells of the prostate gland. An alternatively spliced transcript variant encoding a longer isoform has been found for this gene. This isoform contains a transmembrane domain and is localized in the plasma membrane-endosomal-lysosomal pathway. [provided by RefSeq, Sep 2008]

NAAA Gene

N-acylethanolamine acid amidase

This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RERE Gene

arginine-glutamic acid dipeptide (RE) repeats

This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CMAHP Gene

cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene

Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008]

PPAPDC3 Gene

phosphatidic acid phosphatase type 2 domain containing 3

PPAPDC2 Gene

phosphatidic acid phosphatase type 2 domain containing 2

FURIN Gene

furin (paired basic amino acid cleaving enzyme)

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. The product of this gene is one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140 and may play a role in tumor progression. This gene is located in close proximity to family member proprotein convertase subtilisin/kexin type 6 and upstream of the FES oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

SLC10A1 Gene

solute carrier family 10 (sodium/bile acid cotransporter), member 1

The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]

BCKDHB Gene

branched chain keto acid dehydrogenase E1, beta polypeptide

Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq, Jul 2008]

BCKDHA Gene

branched chain keto acid dehydrogenase E1, alpha polypeptide

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

CMAS Gene

cytidine monophosphate N-acetylneuraminic acid synthetase

Sialic acids are a family of nine-carbon sugars on cell surface glycoproteins and glycolipids that play a pivotal role in determining the structure and function of many animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development and N-glycosylation is a common post-translational modification during cellular differentiation. Sialic acids play important roles in cell-cell communications and immune responses. Sialylated glycoprotein and glycolipid formation requires the activation of a sialic acid to a cytidine monophosphate (CMP) diester by the enzyme encoded by this gene: CMP-N-acetylneuraminic acid synthetase. [provided by RefSeq, Jul 2012]

RAI14 Gene

retinoic acid induced 14

SLC35A1 Gene

solute carrier family 35 (CMP-sialic acid transporter), member A1

The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

ASIC5 Gene

acid sensing (proton gated) ion channel family member 5

This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]

ASIC4 Gene

acid sensing (proton gated) ion channel family member 4

This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]

ASIC1 Gene

acid sensing (proton gated) ion channel 1

This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]

ASIC3 Gene

acid sensing (proton gated) ion channel 3

This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]

ASIC2 Gene

acid sensing (proton gated) ion channel 2

This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]

SIGLEC24P Gene

sialic acid binding Ig-like lectin 24, pseudogene

FABP3P2 Gene

fatty acid binding protein 3, pseudogene 2

SLC1A4 Gene

solute carrier family 1 (glutamate/neutral amino acid transporter), member 4

SLC1A5 Gene

solute carrier family 1 (neutral amino acid transporter), member 5

The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]

ELOVL6 Gene

ELOVL fatty acid elongase 6

Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]

ELOVL7 Gene

ELOVL fatty acid elongase 7

ELOVL4 Gene

ELOVL fatty acid elongase 4

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]

ELOVL5 Gene

ELOVL fatty acid elongase 5

This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

ELOVL2 Gene

ELOVL fatty acid elongase 2

ELOVL3 Gene

ELOVL fatty acid elongase 3

This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]

ELOVL1 Gene

ELOVL fatty acid elongase 1

FFAR1 Gene

free fatty acid receptor 1

This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]

LOC100129728 Gene

nucleic acid binding protein 2 pseudogene

FABP5P11 Gene

fatty acid binding protein 5 pseudogene 11

FAXDC2 Gene

fatty acid hydroxylase domain containing 2

DDC Gene

dopa decarboxylase (aromatic L-amino acid decarboxylase)

The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]

FAAH Gene

fatty acid amide hydrolase

This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]

SLC7A10 Gene

solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10

SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]

SLC7A11 Gene

solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11

This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011]

SLC7A13 Gene

solute carrier family 7 (anionic amino acid transporter), member 13

congenital heart defects; folic acid deficiency; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; folic acid deficiency; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; congenital heart defects; heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; cardiomyopathy, dilated; congenital heart defects; dcm - dilated cardiomyopathy; heart defects, congenital; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; down syndrome; heart defects, congenital; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; down syndrome; heart defects, congenital; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; heart septal defects; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, atrial; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; coronary disease; coronary heart disease; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic coarctation; aortic valve stenosis; congenital heart defects; discrete subaortic stenosis; heart defects, congenital; hypoplastic left heart syndrome; pulmonary valve stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; congenital heart defects; heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; ventricular outflow obstruction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; ventricular outflow obstruction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; heart defects, congenital; nervous system diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; heart defects, congenital; nervous system diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body weight; congenital heart defects; growth disorders; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body weight; congenital heart defects; growth disorders; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; coloboma; congenital heart defects; disease models, animal; facial paralysis; heart defects, congenital; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anencephaly; folic acid deficiency; neural tube defects; pregnancy complications; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antiphospholipid syndrome; arterial occlusive diseases; blood coagulation disorders, inherited; cardiomyopathy, dilated; heart defects, congenital; heart diseases; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; congenital abnormalities; heart defects, congenital; postoperative complications; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset.

folic acid deficiency anemia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease folic acid deficiency anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

adenoma; colorectal neoplasms; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenoma; colorectal neoplasms; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alcoholic neuropathy; alcoholism; folic acid deficiency; hyperhomocysteinemia; liver diseases, alcoholic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alcoholic neuropathy; alcoholism; folic acid deficiency; hyperhomocysteinemia; liver diseases, alcoholic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; folic acid deficiency; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; folic acid deficiency; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

esophageal neoplasms; folic acid deficiency; gastrointestinal neoplasms; oesophageal neoplasm Gene Set

From GAD Gene-Disease Associations

genes associated with the disease esophageal neoplasms; folic acid deficiency; gastrointestinal neoplasms; oesophageal neoplasm in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic ulcerative colitis; colitis, ulcerative; folic acid deficiency; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic ulcerative colitis; colitis, ulcerative; folic acid deficiency; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; leukemia, lymphoid; lymphoblastic leukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; leukemia, lymphoid; lymphoblastic leukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Folic Acid Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; brain ischemia; diabetes mellitus; heart septal defects, atrial; hypertension; intracranial thrombosis; ischemic attack, transient; stroke; transient ischemic attack in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; death, sudden; heart septal defects, atrial; isolated noncompaction of the ventricular myocardium; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular; ventricular septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular; ventricular septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; heart septal defects, atrial; stroke; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial septal defects; heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial septal defects; heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; atrial septal defects; embolism, paradoxical; heart septal defects, atrial; migraine with aura; stroke; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, congenital heart defects, and posterior embryotoxon Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart defects, multiple types, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart defects, multiple types, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heart Defects, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Defects, Congenital from the curated CTD Gene-Disease Associations dataset.

congenital heart defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dilatation, pathologic; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dilatation, pathologic; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxia; blood coagulation disorders, inherited; heart defects, congenital; infection; polycythemia; postoperative complications; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathies; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathies; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; heart defects, congenital; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; heart defects, congenital; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; hyperhomocysteinemia; prenatal exposure delayed effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele Gene Set

From GAD Gene-Disease Associations

genes associated with the disease thromboembolism, venous; heart anomalies, congenital; neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate; omphalocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent Gene Set

From GAD Gene-Disease Associations

genes associated with the disease double outlet right ventricle; heart defects, congenital; pulmonary atresia; tetralogy of fallot; transposition of great vessels; truncus arteriosus, persistent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart defects, congenital; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart defects, congenital; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Heart Defects, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Defects, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

congenital heart defects, nonsyndromic, 1, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 1, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, multiple types, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, multiple types, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

left ventricular noncompaction 1, with or without congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the left ventricular noncompaction 1, with or without congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, congenital heart defects, and posterior embryotoxon Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital heart defects, nonsyndromic, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital heart defects, nonsyndromic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pancreatic agenesis and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the pancreatic agenesis and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset.

folic acid-2783 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the folic acid-2783 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

folic acid-1790 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the folic acid-1790 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

folic acid-7201 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the folic acid-7201 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

folic acid-5844 Gene Set

From CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the folic acid-5844 small molecule perturbation from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

Folic Acid Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Folic Acid from the curated CTD Gene-Chemical Interactions dataset.

Folic Acid Antagonists Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Folic Acid Antagonists from the curated CTD Gene-Chemical Interactions dataset.

Folic Acid Gene Set

From DrugBank Drug Targets

interacting proteins for the Folic Acid drug from the curated DrugBank Drug Targets dataset.

folic acid in plasma and red blood cell folate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid in plasma and red blood cell folate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid-containing compound catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the folic acid-containing compound catabolic process biological process from the curated GO Biological Process Annotations dataset.

folic acid transport Gene Set

From GO Biological Process Annotations

genes participating in the folic acid transport biological process from the curated GO Biological Process Annotations dataset.

folic acid-containing compound biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the folic acid-containing compound biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

response to folic acid Gene Set

From GO Biological Process Annotations

genes participating in the response to folic acid biological process from the curated GO Biological Process Annotations dataset.

folic acid-containing compound metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the folic acid-containing compound metabolic process biological process from the curated GO Biological Process Annotations dataset.

folic acid metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the folic acid metabolic process biological process from the curated GO Biological Process Annotations dataset.

folic acid transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the folic acid transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

folic acid binding Gene Set

From GO Molecular Function Annotations

genes performing the folic acid binding molecular function from the curated GO Molecular Function Annotations dataset.

[3H]folic acid Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the [3H]folic acid ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Folic acid Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Folic acid metabolite from the curated HMDB Metabolites of Enzymes dataset.

abnormal folic acid level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal folic acid level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Folic Acid Network(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Folic Acid Network(Mus musculus) pathway from the Wikipathways Pathways dataset.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Heart Septal Defects, Ventricular Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects, Ventricular from the curated CTD Gene-Disease Associations dataset.

Heart Septal Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects from the curated CTD Gene-Disease Associations dataset.

Heart Septal Defects, Atrial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Septal Defects, Atrial from the curated CTD Gene-Disease Associations dataset.

atrial fibrillation; heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, atrial; tetralogy of fallot Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, atrial; tetralogy of fallot in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ductus arteriosus, patent; heart septal defects, atrial Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ductus arteriosus, patent; heart septal defects, atrial in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; neural tube defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; neural tube defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart septal defects, ventricular; hypertension, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart septal defects, ventricular; hypertension, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Conotruncal heart defects Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Conotruncal heart defects phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Heart Septal Defects, Ventricular Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Ventricular phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Septal Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Heart Septal Defects, Atrial Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Heart Septal Defects, Atrial phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

folic Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term folic in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

folic acid_homo sapiens_gpl2700_gds3656 Gene Set

From GEO Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the folic acid_homo sapiens_gpl2700_gds3656 small molecule perturbation from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset.

myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated OMIM Gene-Disease Associations dataset.

coronary disease; coronary heart disease; heart failure; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; heart failure; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; heart failure; inflammation; ventricular dysfunction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; heart failure; inflammation; ventricular dysfunction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart valve diseases; rheumatic heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart valve diseases; rheumatic heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; vitamin d deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

Testicular anomalies with or without congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testicular anomalies with or without congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital heart disease, multiple types, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital heart disease, multiple types, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pancreatic agenesis and congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycogen Storage Disease of Heart, Lethal Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycogen Storage Disease of Heart, Lethal Congenital from the curated CTD Gene-Disease Associations dataset.

congenital heart disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congenital heart disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congenital heart block Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital heart block in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital heart disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital heart disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cardiomyopathy; heart anomalies, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy; heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital; pulmonary hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital; pulmonary hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune-associated congenital heart block. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune-associated congenital heart block. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart anomalies, congenital; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Congenital heart malformation Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Congenital heart malformation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Congenital heart disease Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Congenital heart disease phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

congenital heart disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease congenital heart disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

congenital malformation of the right heart Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital malformation of the right heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital malformation of the left heart Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital malformation of the left heart phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

?testicular anomalies with or without congenital heart disease Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?testicular anomalies with or without congenital heart disease phenotype from the curated OMIM Gene-Disease Associations dataset.

glycogen storage disease of heart, lethal congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the glycogen storage disease of heart, lethal congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sucrase-isomaltase deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

PROTHROMBIN DEFICIENCY, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROTHROMBIN DEFICIENCY, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Glutamine deficiency, congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutamine deficiency, congenital from the curated CTD Gene-Disease Associations dataset.

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

congenital intrinsic factor deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital intrinsic factor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congenital intrinsic factor deficiency. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital intrinsic factor deficiency. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital haptoglobin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital haptoglobin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to partial lama2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to partial lama2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

muscular dystrophy, congenital, due to itga7 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the muscular dystrophy, congenital, due to itga7 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

[lpa deficiency, congenital] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [lpa deficiency, congenital] phenotype from the curated OMIM Gene-Disease Associations dataset.

clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

lactase deficiency, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the lactase deficiency, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

glutamine deficiency, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the glutamine deficiency, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

sucrase-isomaltase deficiency, congenital Gene Set

From OMIM Gene-Disease Associations

genes associated with the sucrase-isomaltase deficiency, congenital phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoaldosteronism, congenital, due to cmo ii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoaldosteronism, congenital, due to cmo ii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; cardiovascular diseases; congenital adrenal hyperplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adrenal hyperplasia, congenital; congenital adrenal hyperplasia; virilism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of aromatic-L-amino-acid decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatic amino acid decarboxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma aminobutyric acid transaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma aminobutyric acid transaminase deficiency from the curated CTD Gene-Disease Associations dataset.

acid lipase deficiency and cholesterol ester storage disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acid lipase deficiency and cholesterol ester storage disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ascorbic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ascorbic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Ascorbic Acid Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Ascorbic Acid Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

aromatic l-amino acid decarboxylase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the aromatic l-amino acid decarboxylase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

acid-labile subunit, deficiency of Gene Set

From OMIM Gene-Disease Associations

genes associated with the acid-labile subunit, deficiency of phenotype from the curated OMIM Gene-Disease Associations dataset.

?lysosomal acid phosphatase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?lysosomal acid phosphatase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrial septal defect 7 with or without atrioventricular conduction defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrial septal defect 7 with or without atrioventricular conduction defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Forebrain defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Forebrain defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.

Neural Tube Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neural Tube Defects from the curated CTD Gene-Disease Associations dataset.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Laterality Defects, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Laterality Defects, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alopecia, Neurologic Defects, and Endocrinopathy Syndrome from the curated CTD Gene-Disease Associations dataset.

Color Vision Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Color Vision Defects from the curated CTD Gene-Disease Associations dataset.

ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS from the curated CTD Gene-Disease Associations dataset.

cleft palate and calvaria defects. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft palate and calvaria defects. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; dihydropyrimidine dehydrogenase Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; dihydropyrimidine dehydrogenase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiac defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiac defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

axial skeletal defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease axial skeletal defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

left-right laterality defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease left-right laterality defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects and preeclampsia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects and preeclampsia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

color vision defects; retinal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease color vision defects; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; cleft lip with cleft palate; cleft lip without cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

visual field defects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease visual field defects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; pregnancy complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; pregnancy complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neural tube defects; spinal dysraphism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neural tube defects; spinal dysraphism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

defects Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term defects in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

progressive visual field defects Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive visual field defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lung segmentation defects Gene Set

From HPO Gene-Disease Associations

genes associated with the lung segmentation defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pulmonary valve defects Gene Set

From HPO Gene-Disease Associations

genes associated with the pulmonary valve defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mitochondrial respiratory chain defects Gene Set

From HPO Gene-Disease Associations

genes associated with the mitochondrial respiratory chain defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

symmetrical, oval parietal bone defects Gene Set

From HPO Gene-Disease Associations

genes associated with the symmetrical, oval parietal bone defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

forearm reduction defects Gene Set

From HPO Gene-Disease Associations

genes associated with the forearm reduction defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

asymmetric, linear skin defects Gene Set

From HPO Gene-Disease Associations

genes associated with the asymmetric, linear skin defects phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Endocardial Cushion Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Endocardial Cushion Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Color Vision Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Color Vision Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Neural Tube Defects Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Neural Tube Defects phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

skeletal defects, genital hypoplasia, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From OMIM Gene-Disease Associations

genes associated with the hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated OMIM Gene-Disease Associations dataset.

{neural tube defects, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

forebrain defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the forebrain defects phenotype from the curated OMIM Gene-Disease Associations dataset.

{neural tube defects, folate-sensitive, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {neural tube defects, folate-sensitive, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

combined cellular and humoral immune defects with granulomas Gene Set

From OMIM Gene-Disease Associations

genes associated with the combined cellular and humoral immune defects with granulomas phenotype from the curated OMIM Gene-Disease Associations dataset.

neural tube defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the neural tube defects phenotype from the curated OMIM Gene-Disease Associations dataset.

alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

atrial septal defect 7, with or without av conduction defects Gene Set

From OMIM Gene-Disease Associations

genes associated with the atrial septal defect 7, with or without av conduction defects phenotype from the curated OMIM Gene-Disease Associations dataset.

Defects in cobalamin (B12) metabolism Gene Set

From Reactome Pathways

proteins participating in the Defects in cobalamin (B12) metabolism pathway from the Reactome Pathways dataset.

Defects in vitamin and cofactor metabolism Gene Set

From Reactome Pathways

proteins participating in the Defects in vitamin and cofactor metabolism pathway from the Reactome Pathways dataset.

Defects in biotin (Btn) metabolism Gene Set

From Reactome Pathways

proteins participating in the Defects in biotin (Btn) metabolism pathway from the Reactome Pathways dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bile acid synthesis defect, congenital, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bile acid synthesis defect, congenital, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 2 from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 4 from the curated CTD Gene-Disease Associations dataset.

Bile acid synthesis defect, congenital, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bile acid synthesis defect, congenital, 1 from the curated CTD Gene-Disease Associations dataset.

congenital bile acid synthesis defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congenital bile acid synthesis defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

bile acid synthesis defect, congenital, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

bile acid synthesis defect, congenital, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the bile acid synthesis defect, congenital, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.

polylactic acid-polyglycolic acid copolymer Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical polylactic acid-polyglycolic acid copolymer from the curated CTD Gene-Chemical Interactions dataset.

N-(Allyloxycarbonyl)-4-[N-(Carboxy-Formyl)-2-(Benzoic Acid)-Amino]-L-Phenylalaninyl-Amino-Butyloxy-(6-Hydroxy-Benzoic Acid Methyl Ester) Gene Set

From DrugBank Drug Targets

interacting proteins for the N-(Allyloxycarbonyl)-4-[N-(Carboxy-Formyl)-2-(Benzoic Acid)-Amino]-L-Phenylalaninyl-Amino-Butyloxy-(6-Hydroxy-Benzoic Acid Methyl Ester) drug from the curated DrugBank Drug Targets dataset.

5-(DIMETHYLAMINO)-1-NAPHTHALENESULFONIC ACID(DANSYL ACID) Gene Set

From DrugBank Drug Targets

interacting proteins for the 5-(DIMETHYLAMINO)-1-NAPHTHALENESULFONIC ACID(DANSYL ACID) drug from the curated DrugBank Drug Targets dataset.

amino acid disorder, nos; amino acid metabolism, inborn errors; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amino acid disorder, nos; amino acid metabolism, inborn errors; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholesterol, hdl; triglycerides; cholesterol, ldl; lipoprotein; fatty acid; uric acid Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, hdl; triglycerides; cholesterol, ldl; lipoprotein; fatty acid; uric acid in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amino acid disorder, nos; amino acid metabolism, inborn errors Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amino acid disorder, nos; amino acid metabolism, inborn errors in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fatty acid elongation, monounsaturated fatty acid Gene Set

From GO Biological Process Annotations

genes participating in the fatty acid elongation, monounsaturated fatty acid biological process from the curated GO Biological Process Annotations dataset.

fatty acid elongation, unsaturated fatty acid Gene Set

From GO Biological Process Annotations

genes participating in the fatty acid elongation, unsaturated fatty acid biological process from the curated GO Biological Process Annotations dataset.

fatty acid elongation, saturated fatty acid Gene Set

From GO Biological Process Annotations

genes participating in the fatty acid elongation, saturated fatty acid biological process from the curated GO Biological Process Annotations dataset.

fatty acid elongation, polyunsaturated fatty acid Gene Set

From GO Biological Process Annotations

genes participating in the fatty acid elongation, polyunsaturated fatty acid biological process from the curated GO Biological Process Annotations dataset.

acid-amino acid ligase activity Gene Set

From GO Molecular Function Annotations

genes performing the acid-amino acid ligase activity molecular function from the curated GO Molecular Function Annotations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Amino acid conjugation of benzoic acid(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Amino acid conjugation of benzoic acid(Mus musculus) pathway from the Wikipathways Pathways dataset.

Amino acid conjugation of benzoic acid(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Amino acid conjugation of benzoic acid(Homo sapiens) pathway from the Wikipathways Pathways dataset.

actions of nitric oxide in the heart Gene Set

From Biocarta Pathways

proteins participating in the actions of nitric oxide in the heart pathway from the Biocarta Pathways dataset.

nfat and hypertrophy of the heart Gene Set

From Biocarta Pathways

proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset.

Heart Gene Set

From BioGPS Human Cell Type and Tissue Gene Expression Profiles

genes with high or low expression in Heart relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.

heart Gene Set

From BioGPS Mouse Cell Type and Tissue Gene Expression Profiles

genes with high or low expression in heart relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.

Heart block, nonprogressive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Heart block, nonprogressive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive familial heart block type 1A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive familial heart block type 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Progressive familial heart block type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Progressive familial heart block type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Resting heart rate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Resting heart rate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Conotruncal heart malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Conotruncal heart malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Malformation of the heart Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Malformation of the heart phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heart Block Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Block from the curated CTD Gene-Disease Associations dataset.

Hypoplastic Left Heart Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypoplastic Left Heart Syndrome from the curated CTD Gene-Disease Associations dataset.

Heart Injuries Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Injuries from the curated CTD Gene-Disease Associations dataset.

Heart-hand syndrome, Slovenian type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart-hand syndrome, Slovenian type from the curated CTD Gene-Disease Associations dataset.

Heart Rupture, Post-Infarction Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Rupture, Post-Infarction from the curated CTD Gene-Disease Associations dataset.

Heart Valve Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Valve Diseases from the curated CTD Gene-Disease Associations dataset.

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA from the curated CTD Gene-Disease Associations dataset.

Progressive Familial Heart Block, Type Ib Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive Familial Heart Block, Type Ib from the curated CTD Gene-Disease Associations dataset.

Heart Failure Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Failure from the curated CTD Gene-Disease Associations dataset.

CONOTRUNCAL HEART MALFORMATIONS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONOTRUNCAL HEART MALFORMATIONS from the curated CTD Gene-Disease Associations dataset.

Heart Diseases Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Diseases from the curated CTD Gene-Disease Associations dataset.

Heart Arrest Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart Arrest from the curated CTD Gene-Disease Associations dataset.

Heart Rate Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Heart Rate in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Heart Atria Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Heart Atria in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Heart Failure Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Heart Failure in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Heart Function Tests Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Heart Function Tests in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Heart Diseases Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Heart Diseases in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

heart valve disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease heart valve disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

heart conduction disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease heart conduction disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

atrial heart septal defect Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease atrial heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

heart disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease heart disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

congestive heart failure Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease congestive heart failure from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

heart septal defect Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease heart septal defect from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

chronic pulmonary heart disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease chronic pulmonary heart disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

heart conduction disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease heart conduction disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

heart disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease heart disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

congestive heart failure Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease congestive heart failure in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

systolic heart failure Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease systolic heart failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

chronic pulmonary heart disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease chronic pulmonary heart disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

diastolic heart failure Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease diastolic heart failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

heart valve disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease heart valve disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

heart aneurysm Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease heart aneurysm in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

heart lymphoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease heart lymphoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

heart sarcoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease heart sarcoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hypoplastic left heart syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease hypoplastic left heart syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

acute pulmonary heart disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease acute pulmonary heart disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

heart cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease heart cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

heart disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease heart disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

heart conduction disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease heart conduction disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

atrial heart septal defect Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease atrial heart septal defect in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hypertensive heart disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease hypertensive heart disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

congestive heart failure Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease congestive heart failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

coronary artery disease; coronary disease; coronary heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure, diastolic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure, diastolic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease in non-type 1 diabetes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease in non-type 1 diabetes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ischaemic heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ischaemic heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; inflammation; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; inflammation; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart disease, ischemic; peripheral arterial disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart disease, ischemic; peripheral arterial disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; coronary disease; coronary heart disease; insulin resistance; obesity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; coronary disease; coronary heart disease; insulin resistance; obesity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia; pulmonary embolism; pulmonary embolisms; syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus; hypercholesterolemia; hyperhomocysteinemia; hypertension; retinal vein occlusion; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood pressure, arterial; heart rate; orthostatic intolerance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure, arterial; heart rate; orthostatic intolerance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute coronary syndrome; atherosclerosis; coronary disease; coronary heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute coronary syndrome; atherosclerosis; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure, systolic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure, systolic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hypercholesterolemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hypercholesterolemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; myocardial infarction; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; myocardial infarction; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glycogen storage disease type ii; heart diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glycogen storage disease type ii; heart diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart disease, ischemic; myocardial infarction; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart disease, ischemic; myocardial infarction; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; cell transformation, neoplastic; heart diseases; mammary neoplasms; neoplasms, experimental Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; cell transformation, neoplastic; heart diseases; mammary neoplasms; neoplasms, experimental in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease among japanese. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease among japanese. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

type 2 diabetes ; coronary heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease type 2 diabetes ; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hemochromatosis; inflammation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hemochromatosis; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood pressure; heart rate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure; heart rate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain ischemia; heart diseases; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain ischemia; heart diseases; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart disease, ischemic; cerebrovascular disease, ischemic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart disease, ischemic; cerebrovascular disease, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarct; depression; cardiac death; heart failure; angina; arrhythmia, cardiac Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarct; depression; cardiac death; heart failure; angina; arrhythmia, cardiac in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; myocardial infarction; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; myocardial infarction; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; blood loss, surgical; coronary disease; coronary heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; blood loss, surgical; coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; diabetic angiopathies; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; diabetic angiopathies; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarct; heart disease, ischemic; atherosclerosis, coronary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarct; heart disease, ischemic; atherosclerosis, coronary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; heart diseases; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; heart diseases; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart disease, ischemic; lipoprotein Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart disease, ischemic; lipoprotein in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; familial type 3 hyperlipoproteinaemia; hyperinsulinism; hyperlipoproteinemia type iii; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart transplant complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart transplant complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarct; heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarct; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease; hypertension; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease; hypertension; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart rate; arrhythmia, cardiac Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart rate; arrhythmia, cardiac in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; brain ischemia; coronary disease; coronary heart disease; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart disease, ischemic; atherosclerosis, coronary; hyperlipidemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

calcinosis; diabetes complications; heart valve diseases; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease calcinosis; diabetes complications; heart valve diseases; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

rheumatic heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease rheumatic heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure, diastolic; inflammation; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure, diastolic; inflammation; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; diabetes mellitus Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart rate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart rate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; hemorrhage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; hemorrhage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

death, sudden, cardiac; heart diseases; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease death, sudden, cardiac; heart diseases; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart rate variability Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart rate variability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congestive heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congestive heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure; myocardial ischemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease in younger individuals. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease in younger individuals. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; hypercholesterolemia; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; hypercholesterolemia; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

rr interval (heart rate) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease rr interval (heart rate) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; lupus erythematosus, systemic; systemic lupus erythematosus Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; lupus erythematosus, systemic; systemic lupus erythematosus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmias, cardiac; heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmias, cardiac; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart rate, resting Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart rate, resting in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; influenza; influenza, human; postoperative complications; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; influenza; influenza, human; postoperative complications; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart atria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart atria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary atherosclerotic heart disease in chinese Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary atherosclerotic heart disease in chinese in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart function tests Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart function tests in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

rheumatic fever; rheumatic heart disease; streptococcal infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease rheumatic fever; rheumatic heart disease; streptococcal infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmogenic right ventricular dysplasia; heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmogenic right ventricular dysplasia; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure; hemochromatosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart arrest Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart arrest in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy; heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypoplastic left heart syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypoplastic left heart syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; coronary disease; coronary heart disease; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; myocardial infarction; obesity; weight gain Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; myocardial infarction; obesity; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; heart diseases; hypertension; hypertrophy, left ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; heart diseases; hypertension; hypertrophy, left ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholesterol, hdl; triglycerides; coronary heart disease; cholesterol, ldl; cholesterol, total Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, hdl; triglycerides; coronary heart disease; cholesterol, ldl; cholesterol, total in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; thromboembolism; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; thromboembolism; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease; lipids; lipoproteins Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease; lipids; lipoproteins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hypertriglyceridemia; pregnancy complications; weight gain Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hypertriglyceridemia; pregnancy complications; weight gain in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure; tachycardia, ventricular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure; tachycardia, ventricular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathies; heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathies; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; brain ischemia; cardiovascular diseases; coronary disease; coronary heart disease; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; brain ischemia; cardiovascular diseases; coronary disease; coronary heart disease; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease calcinosis; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular abnormalities; heart diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular abnormalities; heart diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; coronary restenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; coronary restenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; myocardial infarction; postoperative complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; myocardial infarction; postoperative complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; coronary artery disease; heart failure; hypertension; kidney diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; coronary artery disease; heart failure; hypertension; kidney diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; glucose tolerance; insulin; lipids; blood pressure, arterial; heart rate; autonomic nervous system Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; glucose tolerance; insulin; lipids; blood pressure, arterial; heart rate; autonomic nervous system in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; heart valve diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; heart valve diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angina pectoris, variant; chest pain; coronary disease; coronary heart disease; myocardial infarction; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarct; heart disease, ischemic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarct; heart disease, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmias, cardiac; death, sudden, cardiac; heart failure; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmias, cardiac; death, sudden, cardiac; heart failure; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart disease, ischemic; peripheral vascular disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart disease, ischemic; peripheral vascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angina pectoris; coronary disease; coronary heart disease; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angina pectoris; coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arrhythmias, cardiac; heart arrest; long qt syndrome; syncope Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arrhythmias, cardiac; heart arrest; long qt syndrome; syncope in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

resting heart rate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease resting heart rate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholesterol; coronary heart disease; lipoproteins Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol; coronary heart disease; lipoproteins in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

death, sudden, cardiac; heart diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease death, sudden, cardiac; heart diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; heart diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; heart diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cholesterol, hdl; heart disease, ischemic; diabetes, type 2; insulin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cholesterol, hdl; heart disease, ischemic; diabetes, type 2; insulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarct; heart disease, ischemic; hypertension; left ventricular hypertrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarct; heart disease, ischemic; hypertension; left ventricular hypertrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; diabetes mellitus; heart failure; hemochromatosis; lcc - liver cell carcinoma; liver cirrhosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; diabetes mellitus; heart failure; hemochromatosis; lcc - liver cell carcinoma; liver cirrhosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; heart diseases; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; heart diseases; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; postoperative complications; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; postoperative complications; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; heart diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; heart diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy; heart failure; sudden death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy; heart failure; sudden death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; inflammation; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; inflammation; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; coronary disease; coronary heart disease; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; coronary disease; coronary heart disease; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure; ventricular remodeling Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure; ventricular remodeling in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure; inflammation; ventricular dysfunction, left Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure; inflammation; ventricular dysfunction, left in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; dyslipidemias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; dyslipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

early onset ischemic heart disease. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease early onset ischemic heart disease. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high coronary heart disease risk particularly affects ser Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high coronary heart disease risk particularly affects ser in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hypertriglyceridemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; mucocutaneous lymph node syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; mucocutaneous lymph node syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hypercholesterolemia; hyperlipoproteinemia type ii Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; fam hyperbetalipoproteinaemia; hypercholesterolemia; hyperlipoproteinemia type ii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, dilated; dcm - dilated cardiomyopathy; heart failure; hemochromatosis; ventricular dysfunction, left Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, dilated; dcm - dilated cardiomyopathy; heart failure; hemochromatosis; ventricular dysfunction, left in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; inflammation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; coronary disease; coronary heart disease; stroke; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; coronary disease; coronary heart disease; stroke; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; carotid artery diseases; coronary disease; coronary heart disease; coronary restenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; carotid artery diseases; coronary disease; coronary heart disease; coronary restenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure; raeder-harbitz syndrome; takayasu arteritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure; raeder-harbitz syndrome; takayasu arteritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure; insulin resistance Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure; insulin resistance in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

kidney transplant; cyclospoine pharmacokinetics; heart transplant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease kidney transplant; cyclospoine pharmacokinetics; heart transplant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amyloidosis; heart diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis; heart diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pharyngitis; rheumatic heart disease; streptococcal infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pharyngitis; rheumatic heart disease; streptococcal infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cerebrovascular disorders; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

communicable diseases; coronary disease; coronary heart disease; degenerative arthropathy ; diabetes mellitus; hyperparathyroidism; neoplasms; osteoarthritis; osteoporosis, postmenopausal; psoriasis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease communicable diseases; coronary disease; coronary heart disease; degenerative arthropathy ; diabetes mellitus; hyperparathyroidism; neoplasms; osteoarthritis; osteoporosis, postmenopausal; psoriasis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; inflammation; myocardial infarction; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; inflammation; myocardial infarction; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart rate variability traits Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart rate variability traits in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; metabolic syndrome x Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; metabolic syndrome x in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

albuminuria; coronary disease; coronary heart disease; hypertension; insulin resistance; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease albuminuria; coronary disease; coronary heart disease; hypertension; insulin resistance; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cadaver; coronary disease; coronary heart disease; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cadaver; coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary artery disease; heart failure; myocardial ischemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary artery disease; heart failure; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; heart failure; myocardial infarction; peripheral vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; heart failure; myocardial infarction; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease and plasma lipid levels. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease and plasma lipid levels. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; diabetic angiopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; diabetic angiopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; hyperplasia; liver diseases; telangiectasia, hereditary hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; hyperplasia; liver diseases; telangiectasia, hereditary hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, dilated; cardiomyopathy, hypertrophic; dcm - dilated cardiomyopathy; heart failure; hypertrophic cardiomyopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, dilated; cardiomyopathy, hypertrophic; dcm - dilated cardiomyopathy; heart failure; hypertrophic cardiomyopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; dilatation, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; dilatation, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrial fibrillation; heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrial fibrillation; heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

rheumatic fever; rheumatic heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease rheumatic fever; rheumatic heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hyperlipidemias Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hyperlipidemias in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood pressure, arterial; heart rate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure, arterial; heart rate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hyperhomocysteinemia; myocardial ischemia; recurrence; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hyperhomocysteinemia; myocardial ischemia; recurrence; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; postoperative complications Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; postoperative complications in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart diseases; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart diseases; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure; ventricular dysfunction, left Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure; ventricular dysfunction, left in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart failure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart failure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; fatigue; inflammation; occupational diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; fatigue; inflammation; occupational diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hemochromatosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hemochromatosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

albuminuria; atherosclerosis; heart diseases; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease albuminuria; atherosclerosis; heart diseases; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; coronary disease; coronary heart disease; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; coronary disease; coronary heart disease; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; coronary disease; coronary heart disease; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; coronary disease; coronary heart disease; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aortic diseases; autoimmune diseases; chorea; choreatic disorders; myocarditis; rheumatic heart disease; streptococcal infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aortic diseases; autoimmune diseases; chorea; choreatic disorders; myocarditis; rheumatic heart disease; streptococcal infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myocardial infarct; heart disease, ischemic; cerebrovascular disease, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart transplant, rejection after Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart transplant, rejection after in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; hyperlipidemias; hyperlipoproteinemia type i Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; hyperlipidemias; hyperlipoproteinemia type i in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary heart disease; myocardial infarction; stroke; cerebrovascular disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary heart disease; myocardial infarction; stroke; cerebrovascular disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart disease, ischemic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart disease, ischemic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart disease, ischemic; insulin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart disease, ischemic; insulin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, dilated; dcm - dilated cardiomyopathy; heart failure; myocardial ischemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, dilated; dcm - dilated cardiomyopathy; heart failure; myocardial ischemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; coronary disease; coronary heart disease; myocardial infarction; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; coronary disease; coronary heart disease; myocardial infarction; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, dilated; dcm - dilated cardiomyopathy; myocardial ischemia; postoperative complications; rheumatic heart disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, dilated; dcm - dilated cardiomyopathy; myocardial ischemia; postoperative complications; rheumatic heart disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

coronary disease; coronary heart disease; diabetes mellitus; inflammation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease coronary disease; coronary heart disease; diabetes mellitus; inflammation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.