Name

SARS Gene

seryl-tRNA synthetase

This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]

USH1C Gene

Usher syndrome 1C (autosomal recessive, severe)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1E Gene

Usher syndrome 1E (autosomal recessive, severe)

RRIS Gene

Respiratory rhythmicity in sleep

NRF1 Gene

nuclear respiratory factor 1

This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

MRST Gene

Mental retardation, severe, with spasticity and tapetoretinal

COPD Gene

Pulmonary disease, chronic obstructive, severe early-onset

LALL Gene

Lymphomatous acute lymphoblastic leukemia

ALL2 Gene

Leukemia, acute lymphoblastic, susceptibility to, 2

STARP1 Gene

steroidogenic acute regulatory protein pseudogene 1

AIR Gene

Acute insulin response (2)

TAL1 Gene

T-cell acute lymphocytic leukemia 1

TAL2 Gene

T-cell acute lymphocytic leukemia 2

This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-cell receptor beta-chain locus on chromosome 7 have been associated with activation of the T-cell acute lymphocytic leukemia 2 gene and T-cell acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009]

STAR Gene

steroidogenic acute regulatory protein

The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]

ALL1 Gene

Leukemia, acute lymphocytic, susceptibility to, 1

BLACE Gene

B-cell acute lymphoblastic leukemia expressed

BAALC Gene

brain and acute leukemia, cytoplasmic

This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]

AMLCR2 Gene

acute myeloid leukemia chromosome region 2

STAT3 Gene

signal transducer and activator of transcription 3 (acute-phase response factor)

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

DGS2 Gene

DiGeorge syndrome/velocardiofacial syndrome complex 2

ART4 Gene

ADP-ribosyltransferase 4 (Dombrock blood group)

This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]

GCNT2 Gene

glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

LOC100422225 Gene

ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) pseudogene

BP49 Gene

Blood pressure QTL 49

C4B Gene

complement component 4B (Chido blood group)

This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, Jul 2008]

BP24 Gene

Blood pressure QTL 24

BP25 Gene

Blood pressure QTL 25

BP26 Gene

Blood pressure QTL 26

BP27 Gene

Blood pressure QTL 27

BP20 Gene

Blood pressure QTL 20

BP21 Gene

Blood pressure QTL 21

BP22 Gene

Blood pressure QTL 22

BP23 Gene

Blood pressure QTL 23

BP28 Gene

Blood pressure QTL 28

BP29 Gene

Blood pressure QTL 29

SF Gene

Stoltzfus blood group

SLC4A1 Gene

solute carrier family 4 (anion exchanger), member 1 (Diego blood group)

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]

ABCB6 Gene

ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]

XK Gene

X-linked Kx blood group

This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]

XG Gene

Xg blood group

This gene encodes the XG blood group antigen, and is located at the pseudoautosomal boundary on the short (p) arm of chromosome X. The three 5' exons reside in the pseudoautosomal region and the remaining exons within the X-specific end. A truncated copy of this gene is found on the Y chromosome at the pseudoautosomal boundary. It is transcribed, but not expected to make a Y-chromosome specific gene product. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

CD55 Gene

CD55 molecule, decay accelerating factor for complement (Cromer blood group)

This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce soluble proteins. [provided by RefSeq, Jul 2014]

LOC100422194 Gene

ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) pseudogene

ERMAP Gene

erythroblast membrane-associated protein (Scianna blood group)

The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

BP1 Gene

Blood pressure QTL 1

BP3 Gene

Blood pressure QTL 3

BP2 Gene

Blood pressure QTL 2

BP5 Gene

Blood pressure QTL 5

BP4 Gene

Blood pressure QTL 4

BP7 Gene

Blood pressure QTL 7

BP6 Gene

Blood pressure QTL 6

BP9 Gene

Blood pressure QTL 9

BP8 Gene

Blood pressure QTL 8

AQP3 Gene

aquaporin 3 (Gill blood group)

This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. [provided by RefSeq, Aug 2011]

LOC401913 Gene

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) pseudogene

SLC14A1 Gene

solute carrier family 14 (urea transporter), member 1 (Kidd blood group)

The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]

ABCG2 Gene

ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)

The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

KEL Gene

Kell blood group, metallo-endopeptidase

This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]

LOC100499223 Gene

beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) pseudogene

ACKR1 Gene

atypical chemokine receptor 1 (Duffy blood group)

The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SEMA7A Gene

semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)

The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

XKRYP6 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 6

XKRYP4 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 4

XKRYP5 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 5

XKRYP2 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 2

XKRYP3 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 3

XKRYP1 Gene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 1

FUT3 Gene

fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)

The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

FUT1 Gene

fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)

The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Jul 2008]

AQP1 Gene

aquaporin 1 (Colton blood group)

Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

SMIM1 Gene

small integral membrane protein 1 (Vel blood group)

This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]

LOC100533842 Gene

ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) pseudogene

ICAM4 Gene

intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)

This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

BP51 Gene

Blood pressure QTL 51

BP50 Gene

Blood pressure QTL 50

BP53 Gene

Blood pressure QTL 53

BP52 Gene

Blood pressure QTL 52

BP55 Gene

Blood pressure QTL 55

BP54 Gene

Blood pressure QTL 54

PFBI Gene

Plasmodium falciparum blood infection levels

RHD Gene

Rh blood group, D antigen

The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CR1 Gene

complement component (3b/4b) receptor 1 (Knops blood group)

This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008]

CD151 Gene

CD151 molecule (Raph blood group)

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

B3GALNT1 Gene

beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq, Jul 2008]

BSG Gene

basigin (Ok blood group)

The protein encoded by this gene is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. The encoded protein is also a member of the immunoglobulin superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SEC1P Gene

secretory blood group 1, pseudogene

GYPA Gene

glycophorin A (MNS blood group)

Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]

GYPB Gene

glycophorin B (MNS blood group)

Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

GYPC Gene

glycophorin C (Gerbich blood group)

Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

GYPE Gene

glycophorin E (MNS blood group)

The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

XKR9 Gene

XK, Kell blood group complex subunit-related family, member 9

XKR8 Gene

XK, Kell blood group complex subunit-related family, member 8

LOC100422434 Gene

complement component (3b/4b) receptor 1 (Knops blood group) pseudogene

C4B_2 Gene

complement component 4B (Chido blood group), copy 2

This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. [provided by RefSeq, Jul 2011]

C4A Gene

complement component 4A (Rodgers blood group)

This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

BP37 Gene

Blood pressure QTL 37

BP36 Gene

Blood pressure QTL 36

BP35 Gene

Blood pressure QTL 35

BP34 Gene

Blood pressure QTL 34

BP33 Gene

Blood pressure QTL 33

BP32 Gene

Blood pressure QTL 32

BP31 Gene

Blood pressure QTL 31

BP30 Gene

Blood pressure QTL 30

BP39 Gene

Blood pressure QTL 39

BP38 Gene

Blood pressure QTL 38

BVES Gene

blood vessel epicardial substance

This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

BP18 Gene

Blood pressure QTL 18

BP14 Gene

Blood pressure QTL 14

XKRY2 Gene

XK, Kell blood group complex subunit-related, Y-linked 2

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

ACHE Gene

acetylcholinesterase (Yt blood group)

Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008]

CD44 Gene

CD44 molecule (Indian blood group)

The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]

BP46 Gene

Blood pressure QTL 46

BP47 Gene

Blood pressure QTL 47

BP45 Gene

Blood pressure QTL 45

BP48 Gene

Blood pressure QTL 48

AN Gene

blood group Ahonen

ABO Gene

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]

XKRY Gene

XK, Kell blood group complex subunit-related, Y-linked

This gene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It encodes a protein which is similar to XK (X-linked Kell blood group precursor), a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

XKRX Gene

XK, Kell blood group complex subunit-related, X-linked

This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]

XKR5 Gene

XK, Kell blood group complex subunit-related family, member 5

XKR4 Gene

XK, Kell blood group complex subunit-related family, member 4

XKR7 Gene

XK, Kell blood group complex subunit-related family, member 7

XKR6 Gene

XK, Kell blood group complex subunit-related family, member 6

XKR3 Gene

XK, Kell blood group complex subunit-related family, member 3

XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]

LOC100422564 Gene

glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) pseudogene

BP19 Gene

Blood pressure QTL 19

BP15 Gene

Blood pressure QTL 15

BP17 Gene

Blood pressure QTL 17

BP16 Gene

Blood pressure QTL 16

BP11 Gene

Blood pressure QTL 11

BP10 Gene

Blood pressure QTL 10

BP13 Gene

Blood pressure QTL 13

BP12 Gene

Blood pressure QTL 12

BCAM Gene

basal cell adhesion molecule (Lutheran blood group)

This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

RHCE Gene

Rh blood group, CcEe antigens

The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. [provided by RefSeq, Jul 2008]

TCOF1 Gene

Treacher Collins-Franceschetti syndrome 1

This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

CDAGS Gene

Craniosynostosis, anal anomalies, and porokeratosis syndrome

PISRT1 Gene

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)

SPG21 Gene

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

FRIASS Gene

Frias syndrome

DEL8Q13 Gene

Mesomelia-synostoses syndrome

RENS2 Gene

Renpenning syndrome 2

DUP5P13 Gene

Chromosome 5p13 duplication syndrome

USH3B Gene

Usher syndrome 3B

ASPG2 Gene

Asperger syndrome, susceptibility to, 2

ASPG3 Gene

Asperger syndrome, susceptibility to, 3

ASPG4 Gene

Asperger syndrome, susceptibility to, 4

MGS Gene

Mungan syndrome

FWS Gene

Forsythe-Wakeling syndrome

DEL15Q26QTER Gene

Chromosome 15q26-qter deletion syndrome

SSSCA1 Gene

Sjogren syndrome/scleroderma autoantigen 1

This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]

SPG20 Gene

spastic paraplegia 20 (Troyer syndrome)

This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

JBS Gene

Jacobsen syndrome

WS2B Gene

Waardenburg syndrome, type 2B

WS2C Gene

Waardenburg syndrome, type IIC

MRXSAB Gene

Abidi X-linked mental retardation syndrome

WHSC1 Gene

Wolf-Hirschhorn syndrome candidate 1

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

COHEN1 Gene

Cohen syndrome QTL 1

AOMS1 Gene

Abdominal obesity-metabolic syndrome QTL1

AOMS2 Gene

abdominal obesity-metabolic syndrome QTL2

DCR Gene

Down syndrome chromosome region

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.[supplied by OMIM, Apr 2005]

DUPXP11.22 Gene

Xp11.22 microduplication syndrome

DEL15Q11.2 Gene

Chromosome 15q11.2 deletion syndrome

HHT3 Gene

Osler-Rendu-Weber syndrome 3

DEL1Q43Q44 Gene

Chromosome 1q42-q44 deletion syndrome

OGS2 Gene

Opitz G syndrome, type II

This disorder, variously named the G, Opitz-G, or BBB syndrome, includes hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; and congenital heart defects.[supplied by OMIM, Jul 2002]

AMMECR1 Gene

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

TUKLS Gene

Tukel syndrome

PIH2 Gene

pregnancy-induced hypertension syndrome-related protein

CXDUPQ26.3 Gene

Chromosome Xq26.3 duplication syndrome

LOC729770 Gene

wiskott-Aldrich syndrome protein homolog

HBHR Gene

alpha-thalassemia/mental retardation syndrome, type 1

NMLFS Gene

Nablus mask-like facial syndrome

BMIQ16 Gene

Chromosome 16p11.2 deletion syndrome, 220kb

DELYQ11 Gene

Sertoli cell-only syndrome, Y-linked

DEL19P13.13 Gene

Chromosome 19p13.13 deletion syndrome

DEL3PTERP25 Gene

3p- syndrome

TRIP4Q32.1Q32.2 Gene

Chromosome 4q32.1-q32.2 triplication syndrome

DEL3Q13.31 Gene

Chromosome 3q13.31 deletion syndrome

DEL15Q25 Gene

Chromosome 15q25 deletion syndrome

SSB Gene

Sjogren syndrome antigen B (autoantigen La)

The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5' and 3' ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]

DELXP21 Gene

Chromosome Xp21 deletion syndrome

DEL17Q12 Gene

Chromosome 17q12 deletion syndrome

EDS8 Gene

Ehlers-Danlos syndrome, type VIII

LOC102724426 Gene

Sjoegren syndrome nuclear autoantigen 1 homolog

DSCR8 Gene

Down syndrome critical region 8

DSCR3 Gene

Down syndrome critical region 3

The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]

MLSM7 Gene

Myelodysplasia and leukemia syndrome with monosomy 7

ALMS1 Gene

Alstrom syndrome protein 1

This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

TAM Gene

Myeloproliferative syndrome, transient (transient abnormal

WHCR Gene

Wolf-Hirschhorn syndrome chromosome region

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008 [PubMed 18932224]).[supplied by OMIM, Nov 2010]

DEL2Q23.1 Gene

Chromosome 2q23.1 deletion syndrome

WHSC1L1 Gene

Wolf-Hirschhorn syndrome candidate 1-like 1

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]

ATRX Gene

alpha thalassemia/mental retardation syndrome X-linked

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]

DUP16P11.2 Gene

Chromosome 16p11.2 duplication syndrome

MMDFS Gene

Multiple mitochondrial dysfunctions syndrome

DEL8Q21.11 Gene

Chromosome 8q21.11 deletion syndrome

CDL2 Gene

Cornelia de Lange syndrome 2

DEL3Q29 Gene

Chromosome 3q29 microdeletion syndrome

AMMEC Gene

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

DGCR9 Gene

DiGeorge syndrome critical region gene 9 (non-protein coding)

DGCR2 Gene

DiGeorge syndrome critical region gene 2

Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

DGCR5 Gene

DiGeorge syndrome critical region gene 5 (non-protein coding)

DGCR7 Gene

DiGeorge syndrome critical region gene 7

DGCR6 Gene

DiGeorge syndrome critical region gene 6

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. The product of this gene shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the gamma-1 subunit of human laminin. This gene is a candidate for involvement in DiGeorge syndrome pathology and in schizophrenia. [provided by RefSeq, Nov 2008]

DEL9P Gene

Chromosome 9p deletion syndrome

LVSKS Gene

Levy-Shanske syndrome

ADFN Gene

albinism-deafness syndrome

GPDS1 Gene

glaucoma-related pigment dispersion syndrome 1

DEL2Q32Q33 Gene

Chromosome 2q32-q33 deletion syndrome

CECR5 Gene

cat eye syndrome chromosome region, candidate 5

CECR9 Gene

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

LOC101929941 Gene

neural Wiskott-Aldrich syndrome protein-like

RIEG2 Gene

Rieger syndrome 2

DEL1Q41Q42 Gene

Chromosome 1q41-q42 deletion syndrome

SBDS Gene

Shwachman-Bodian-Diamond syndrome

This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008]

PSS Gene

Potocki-Shaffer syndrome

OCRL Gene

oculocerebrorenal syndrome of Lowe

This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008]

LOC100420893 Gene

Down syndrome critical region 3 pseudogene

PCOS1 Gene

polycystic ovary syndrome 1

WHSC1L2P Gene

Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene

DEL11P13 Gene

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome

WBSCR27 Gene

Williams Beuren syndrome chromosome region 27

This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]

WBSCR28 Gene

Williams-Beuren syndrome chromosome region 28

DUP17Q23.1Q23.2 Gene

Chromosome 17q23.1-q23.2 duplication syndrome

FGS2 Gene

FG syndrome 2

FGS3 Gene

FG syndrome 3

HYLS1 Gene

hydrolethalus syndrome 1

This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]

EVC2 Gene

Ellis van Creveld syndrome 2

This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

ACF Gene

Asymmetric crying facies (Cayler cardiofacial syndrome)

DEL6Q24Q25 Gene

Chromosome 6q25-q25 deletion syndrome

MYSA Gene

myasthenic (Lambert-Eaton) syndrome antigen A

INDX Gene

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

SCLL Gene

Chromosome 8p11 myeloproliferative syndrome

ACLS Gene

acrocallosal syndrome

USHBP1 Gene

Usher syndrome 1C binding protein 1

LOC389465 Gene

Sjogren syndrome antigen B pseudogene

TEMPS Gene

Temple syndrome

GHS Gene

Goldenhar syndrome

KONDS Gene

Kondoh syndrome

NIPA2P3 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3

NIPA2P2 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2

NIPA2P1 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1

NIPA2P5 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5

NIPA2P4 Gene

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4

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]

MROS Gene

Melkersson-Rosenthal syndrome

CECR1 Gene

cat eye syndrome chromosome region, candidate 1

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

CECR2 Gene

cat eye syndrome chromosome region, candidate 2

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

CECR3 Gene

cat eye syndrome chromosome region, candidate 3 (non-protein coding)

CECR6 Gene

cat eye syndrome chromosome region, candidate 6

DELXQ28 Gene

Chromosome Xq28 microdeletion syndrome

APMR3 Gene

Alopecia-mental retardation syndrome 3

APMR2 Gene

Alopecia with mental retardation syndrome 2

APMR1 Gene

Alopecia-mental retardation syndrome

COHEN2 Gene

Cohen syndrome QTL 2

DUP2Q31.1 Gene

Chromosome 2q31.1 duplication syndrome

MKKS Gene

McKusick-Kaufman syndrome

This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]

DEL22Q11.2 Gene

Chromosome 22q11.2 deletion syndrome, distal

USH2A Gene

Usher syndrome 2A (autosomal recessive, mild)

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

MDS2 Gene

myelodysplastic syndrome 2 translocation associated

DEL13Q14 Gene

Chromosome 13q14 deletion syndrome

DUP16P13.3 Gene

Chromosome 16p13.3 duplication syndrome

DEL6PTER Gene

Chromosome 6pter deletion syndrome

WRN Gene

Werner syndrome, RecQ helicase-like

This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]

DUPXQ28 Gene

Chromosome Xq28 duplication syndrome

DEL2P12P11.2 Gene

Chromosome 2p12-p11.2 deletion syndrome

ARCODS Gene

Ariculocondylar syndrome

MKS1 Gene

Meckel syndrome, type 1

The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

DGCR Gene

DiGeorge syndrome chromosome region

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see MIM 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.[supplied by OMIM, Aug 2009]

LOC100421446 Gene

Wolf-Hirschhorn syndrome candidate 1-like 1 pseudogene

ANCR Gene

Angelman syndrome chromosome region

Angelman syndrome is characterized by mental retardation, movement or balance disorder, characteristic abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; MIM 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (MIM 608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) [PubMed 1619637] provided a review of Angelman syndrome. Cassidy and Schwartz (1998) [PubMed 9556704] reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) [PubMed 18627066] provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.[supplied by OMIM, Oct 2008]

DEL2Q31 Gene

Chromosome 2q31.2 deletion syndrome

RJBS Gene

Rajab syndrome

DEL16P12.1P11.2 Gene

Chromosome 16p12.2-p11.2 deletion syndrome

MDNS Gene

Mammary-digital-nail syndrome

DEL2P16.1-P15 Gene

Chromosome 2p16.1-p15 deletion syndrome

WBSCR17 Gene

Williams-Beuren syndrome chromosome region 17

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

DEL6Q11Q14 Gene

Chromosome 6q11-q14 deletion syndrome

WAS Gene

Wiskott-Aldrich syndrome

The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]

MEHMO Gene

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

MRXSA Gene

Armfield X-linked mental retardation syndrome

MRXSL Gene

Lubs X-linked mental retardation syndrome

RFMN Gene

Roifman syndrome

DUP22Q11.2 Gene

Chromosome 22q11.2 microduplication syndrome

DSCAM Gene

Down syndrome cell adhesion molecule

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

CATMANS Gene

Catel-Manzke syndrome

ICR4 Gene

ichthyosis congenita IV, ichthyosis-prematurity syndrome

LRSL Gene

Larsen-like syndrome

DUP7Q11.23 Gene

Chromosome 7q11.23 duplication syndrome

MRXSBWB Gene

Brooks-Wisniewski-Brown syndrome

MBS1 Gene

Moebius syndrome 1

MBS2 Gene

Moebius syndrome 2

MBS3 Gene

Moebius syndrome 3

THAS Gene

thoracoabdominal syndrome

DEL16P13.3 Gene

Chromosome 16p13.3 deletion syndrome

DSCR9 Gene

Down syndrome critical region 9 (non-protein coding)

DSCR4 Gene

Down syndrome critical region 4

The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015]

DEL17Q23.1Q23.2 Gene

Chromosome 17q23.1-q23.2 deletion syndrome

AIC Gene

Aicardi syndrome

DEL1P32P31 Gene

Chromosome 1p32-p31 deletion syndrome

DUPXQ27.3Q28 Gene

Chromosome Xq27.3-q28 duplication syndrome

DEL14Q11Q22 Gene

Chromosome 14q11-q22 deletion syndrome

MCS Gene

Miles-Carpenter X-linked mental retardation syndrome

SPPM Gene

scapuloperoneal syndrome, myopathic type

DUP17P13.3 Gene

Chromosome 17p13.3 duplication syndrome

SMCR8 Gene

Smith-Magenis syndrome chromosome region, candidate 8

SMCR2 Gene

Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding)

SMCR5 Gene

Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding)

SMCR6 Gene

Smith-Magenis syndrome chromosome region, candidate 6 (non-protein coding)

CECR7 Gene

cat eye syndrome chromosome region, candidate 7 (non-protein coding)

CYLD Gene

cylindromatosis (turban tumor syndrome)

This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

DEL2P21 Gene

Hypotonia-cystinuria syndrome

WAGRO Gene

WAGRO syndrome

OFD1 Gene

oral-facial-digital syndrome 1

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq, Jul 2008]

EDSS2 Gene

Ectodermal dysplasia-syndactyly syndrome 2

DELXP11.3 Gene

Chromosome Xp11.3 deletion syndrome

MRXSMP Gene

Martin-Probst deafness-mental retardation syndrome

MSD Gene

microcephaly with spastic diplegia (Paine syndrome)

PRS Gene

Prieto X-linked mental retardation syndrome

DUP17Q12 Gene

Chromosome 17q12 duplication syndrome

USH1K Gene

Usher syndrome 1K (autosomal recessive)

SPG38 Gene

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

ALMS1P Gene

Alstrom syndrome 1 pseudogene

SBDSP1 Gene

Shwachman-Bodian-Diamond syndrome pseudogene 1

ACRPV Gene

Acropectorovertebral dysplasia (F syndrome)

ACRPS Gene

Acropectoral syndrome

PRBNS Gene

Pierre Robin syndrome

ZLS Gene

Zimmerman-Laband Syndrome

CCCSX Gene

Cerebral-cerebellar-coloboma syndrome, X-linked

WBSCR22 Gene

Williams Beuren syndrome chromosome region 22

This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]

WFS1 Gene

Wolfram syndrome 1 (wolframin)

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

DUP3Q29 Gene

chromosome 3q29 microduplication syndrome

DUPXP11.23P11.22 Gene

Chromosome Xp11.23-p11.22 duplication syndrome

ASPG1 Gene

Asperger syndrome, susceptibility to, 1

DEL18P Gene

Chromosome 18p deletion syndrome

DEL18Q Gene

Chromosome 18q deletion syndrome

FRTS1 Gene

Fanconi renotubular syndrome

PTLS Gene

Potocki-Lupski syndrome

CECR Gene

cat eye syndrome chromosome region

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]

FGS5 Gene

FG syndrome 5

IPW Gene

imprinted in Prader-Willi syndrome (non-protein coding)

This gene is non-protein coding, is expressed exclusively from the paternal allele, and may play a role in the imprinting process. Mutations in this gene are associated with Prader-Willi syndrome. [provided by RefSeq, May 2010]

DER22T11-22 Gene

Emanuel syndrome

DGCR11 Gene

DiGeorge syndrome critical region gene 11 (non-protein coding)

DGCR10 Gene

DiGeorge syndrome critical region gene 10 (non-protein coding)

DGCR12 Gene

DiGeorge syndrome critical region gene 12 (non-protein coding)

DGCR14 Gene

DiGeorge syndrome critical region gene 14

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. [provided by RefSeq, Jul 2008]

DSCR10 Gene

Down syndrome critical region 10 (non-protein coding)

GTS Gene

Gilles de la Tourette syndrome

DEL15Q24 Gene

Chromosome 15q24 deletion syndrome

RCHTS Gene

Roifman-Chitayat syndrome

C16DELQ22 Gene

Chromosome 16q22 deletion syndrome

TRPS1 Gene

trichorhinophalangeal syndrome I

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

DEL15Q13.3 Gene

Chromosome 15q13.3 microdeletion syndrome

DWS Gene

dandy-walker syndrome

DUP1Q21 Gene

Chromosome 1q21.1 duplication syndrome

WBS2 Gene

Williams-Beuren syndrome type 2

WBSCR2 Gene

Williams-Beuren syndrome chromosome region 2

LFS3 Gene

Li-Fraumeni syndrome 3

ATD Gene

asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome)

USH1H Gene

Usher syndrome 1H (autosomal recessive)

USH1G Gene

Usher syndrome 1G (autosomal recessive)

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

RSS Gene

Russell Silver syndrome

SCKL3 Gene

Seckel syndrome 3

WSN Gene

Waisman syndrome

RSCIS Gene

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

DER22T8-22 Gene

Supernumerary der(22)t(8-22) syndrome

GUST Gene

Gustavson mental retardation syndrome (with microcephaly, optic

RLS3 Gene

Restless legs syndrome 3

RLS2 Gene

Restless legs syndrome 2

RLS1 Gene

Restless legs syndrome, susceptibility to

RLS7 Gene

Restless legs syndrome 7

RLS6 Gene

Restless legs syndrome, susceptibility to, 6

RLS5 Gene

Restless legs syndrome, susceptibility to, 5

RLS8 Gene

Restless legs syndrome, susceptibility to, 8

WASL Gene

Wiskott-Aldrich syndrome-like

This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]

BBS9 Gene

Bardet-Biedl syndrome 9

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

BBS1 Gene

Bardet-Biedl syndrome 1

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

BBS2 Gene

Bardet-Biedl syndrome 2

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]

BBS5 Gene

Bardet-Biedl syndrome 5

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized. [provided by RefSeq, Jul 2008]

BBS4 Gene

Bardet-Biedl syndrome 4

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Oct 2014]

BBS7 Gene

Bardet-Biedl syndrome 7

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]

NIPA2 Gene

non imprinted in Prader-Willi/Angelman syndrome 2

This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]

NIPA1 Gene

non imprinted in Prader-Willi/Angelman syndrome 1

This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]

LOC100500719 Gene

Hermansky-Pudlak syndrome 1 pseudogene

ATPLS Gene

antiphospholipid syndrome, familial

DEL1P36 Gene

Chromosome 1p36 deletion syndrome

DURS1 Gene

Duane retraction syndrome 1

VWSM Gene

Van der Woude syndrome modifier

DSCAML1 Gene

Down syndrome cell adhesion molecule like 1

LOC653588 Gene

Sjogren syndrome antigen B (autoantigen La) pseudogene

GTSCR1 Gene

Gilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding)

DEL17Q21.31 Gene

Microdeletion 17q21.31 syndrome

NS2 Gene

Noonan syndrome 2

RLS4 Gene

Restless legs syndrome 4

DEL7Q11.23 Gene

Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb

AOS Gene

Adams-Oliver syndrome

BBS10 Gene

Bardet-Biedl syndrome 10

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]

BBS12 Gene

Bardet-Biedl syndrome 12

The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

CFSS Gene

craniofacioskeletal syndrome

SSNA1 Gene

Sjogren syndrome nuclear autoantigen 1

DUP17Q21.31 Gene

Chromosome 17q21.31 duplication syndrome

BOS2 Gene

Branchiootic syndrome 2

DEL19Q13.11 Gene

Chromosome 19q13.11 deletion syndrome

LOC100533757 Gene

Sjogren syndrome antigen B (autoantigen La) pseudogene

DEL10Q26 Gene

Chromosome 10q deletion syndrome

WBSCR16 Gene

Williams-Beuren syndrome chromosome region 16

This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

OTDD Gene

Otodental dysplasia chromosome deletion syndrome

DEL17Q11.2 Gene

chromosome 17q11.2 deletion syndrome

DUP8Q22.1 Gene

Leri pleonosteosis chromosome duplication syndrome

EEC2 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

EEC1 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1

DEL4Q21 Gene

Chromosome 4q21 deletion syndrome

DUP22Q13 Gene

Chromosome 22q13 duplication syndrome

DGCR6L Gene

DiGeorge syndrome critical region gene 6-like

This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]

BLM Gene

Bloom syndrome, RecQ helicase-like

The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]

WTRS Gene

Wittwer syndrome

DEL17P13.1 Gene

Chromosome 17p13.1 deletion syndrome

KTWS Gene

Klippel-Trenaunay-Weber syndrome

DEL11P15P14 Gene

Chromosome 11p15-p14 deletion syndrome

DEL1Q21 Gene

Chromosome 1q21.1 deletion syndrome

DEL8Q12Q21 Gene

Bor-Duane hydrocephalus contiguous gene syndrome

SLSN3 Gene

Senior-Loken syndrome 3

BZX Gene

Bazex syndrome

ARVCF Gene

armadillo repeat gene deleted in velocardiofacial syndrome

Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]

HPS5 Gene

Hermansky-Pudlak syndrome 5

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

HPS4 Gene

Hermansky-Pudlak syndrome 4

This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

HPS6 Gene

Hermansky-Pudlak syndrome 6

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]

HPS1 Gene

Hermansky-Pudlak syndrome 1

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008]

HPS3 Gene

Hermansky-Pudlak syndrome 3

This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]

LCS1 Gene

lymphedema-cholestasis syndrome 1

Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Severe acute respiratory syndrome (SARS)_Peripheral blood mononuclear cell_GSE1739 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, erythroblastic, acute; leukemia, megakaryoblastic, acute; leukemia, monocytic, acute; leukemia, myeloid; leukemia, myeloid, acute; leukemia, myelomonocytic, acute; leukemia, promyelocytic, acute Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, erythroblastic, acute; leukemia, megakaryoblastic, acute; leukemia, monocytic, acute; leukemia, myeloid; leukemia, myeloid, acute; leukemia, myelomonocytic, acute; leukemia, promyelocytic, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sars (severe acute respiratory syndrome) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sars (severe acute respiratory syndrome) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Acute Respiratory Syndrome from the curated CTD Gene-Disease Associations dataset.

severe acute respiratory syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

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

communicable diseases; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease communicable diseases; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anoxemia; anoxia; pneumonia, viral; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bone necrosis; osteonecrosis; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bone necrosis; osteonecrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease femur head necrosis; pulmonary fibrosis; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Severe Acute Respiratory Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Acute Respiratory Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin; obesity; blood pressure, arterial; blood and blood forming organ disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin; obesity; blood pressure, arterial; blood and blood forming organ disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoa1; apoa2; fasting blood sugar; fasting blood sugar Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; triglycerides; cholesterol, total; blood pressure; leptin; apoa1; apoa2; fasting blood sugar; fasting blood sugar in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

LGLL - Large granular lymphocytic leukemia_Peripheral blood mononuclear cell_GSE10631 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during LGLL - Large granular lymphocytic leukemia_Peripheral blood mononuclear cell_GSE10631 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Bacterial Infection_Peripheral blood mononuclear cell_GSE3026 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Bacterial Infection_Peripheral blood mononuclear cell_GSE3026 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Pauciarticular juvenile arthritis_Peripheral blood mononuclear cell_GSE1402 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Pauciarticular juvenile arthritis_Peripheral blood mononuclear cell_GSE1402 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

HIV - Human immunodeficiency virus infection_Peripheral blood mononuclear cell_GSE2171 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during HIV - Human immunodeficiency virus infection_Peripheral blood mononuclear cell_GSE2171 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

B-cell chronic lymphocytic leukaemia-small lymphocytic lymphoma_Peripheral blood mononuclear cell_GSE8835 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during B-cell chronic lymphocytic leukaemia-small lymphocytic lymphoma_Peripheral blood mononuclear cell_GSE8835 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

PTSD - Post-traumatic stress disorder_Peripheral blood mononuclear cell_GSE860 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during PTSD - Post-traumatic stress disorder_Peripheral blood mononuclear cell_GSE860 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Ulcerative Colitis_Peripheral blood mononuclear cell_GSE3365 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Ulcerative Colitis_Peripheral blood mononuclear cell_GSE3365 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Rotavirus infection of children_Peripheral blood mononuclear cell_GSE2729 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Rotavirus infection of children_Peripheral blood mononuclear cell_GSE2729 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

JRA - Juvenile rheumatoid arthritis_Peripheral blood mononuclear cell_GSE7753 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during JRA - Juvenile rheumatoid arthritis_Peripheral blood mononuclear cell_GSE7753 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

H3K9me3_Peripheral Blood Mononuclear Primary Cells Gene Set

From Roadmap Epigenomics Histone Modification Site Profiles

genes with high histone modification abundance in the H3K9me3_Peripheral Blood Mononuclear Primary Cells histone modification site profile from the Roadmap Epigenomics Histone Modification Site Profiles dataset.

H3K9ac_Peripheral Blood Mononuclear Primary Cells Gene Set

From Roadmap Epigenomics Histone Modification Site Profiles

genes with high histone modification abundance in the H3K9ac_Peripheral Blood Mononuclear Primary Cells histone modification site profile from the Roadmap Epigenomics Histone Modification Site Profiles dataset.

H3K27me3_Peripheral Blood Mononuclear Primary Cells Gene Set

From Roadmap Epigenomics Histone Modification Site Profiles

genes with high histone modification abundance in the H3K27me3_Peripheral Blood Mononuclear Primary Cells histone modification site profile from the Roadmap Epigenomics Histone Modification Site Profiles dataset.

H3K4me1_Peripheral Blood Mononuclear Primary Cells Gene Set

From Roadmap Epigenomics Histone Modification Site Profiles

genes with high histone modification abundance in the H3K4me1_Peripheral Blood Mononuclear Primary Cells histone modification site profile from the Roadmap Epigenomics Histone Modification Site Profiles dataset.

H3K36me3_Peripheral Blood Mononuclear Primary Cells Gene Set

From Roadmap Epigenomics Histone Modification Site Profiles

genes with high histone modification abundance in the H3K36me3_Peripheral Blood Mononuclear Primary Cells histone modification site profile from the Roadmap Epigenomics Histone Modification Site Profiles dataset.

peripheral blood mononuclear cell Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue peripheral blood mononuclear cell from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

peripheral blood mononuclear cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue peripheral blood mononuclear cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

leukemia, myelocytic, acute; leukemia, myeloid, acute; leukemias, acute myeloblastic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myelocytic, acute; leukemia, myeloid, acute; leukemias, acute myeloblastic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lymphocytic leukemia; leukemia, myeloid, acute; leukemias, acute myeloblastic; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lymphocytic leukemia; leukemia, myeloid, acute; leukemias, acute myeloblastic; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute t cell leukemia; burkitt lymphoma; burkitt; acute lymphoblastic leukemia (type); leukemia, lymphocytic, acute, l1; leukemia-lymphoma, adult t-cell; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute t cell leukemia; burkitt lymphoma; burkitt; acute lymphoblastic leukemia (type); leukemia, lymphocytic, acute, l1; leukemia-lymphoma, adult t-cell; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lymphocytic leukemia; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid, acute; leukemias, acute myeloblastic; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lymphocytic leukemia; leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid, acute; leukemias, acute myeloblastic; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lymphocytic leukemia; leukemia, myeloid, acute; leukemias, acute myeloblastic; precursor cell lymphoblastic leukemia-lymphoma; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lymphocytic leukemia; leukemia, myeloid, acute; leukemias, acute myeloblastic; precursor cell lymphoblastic leukemia-lymphoma; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome, adult; respiratory insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome, adult; respiratory insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute respiratory distress syndrome Gene Set

From GAD Gene-Disease Associations

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

sepsis; pneumonia; acute respiratory distress syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease sepsis; pneumonia; acute respiratory distress syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome, acute Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe acute radiotherapy side effects Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe acute radiotherapy side effects in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; recurrence; respiratory sounds; respiratory syncytial virus infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; recurrence; respiratory sounds; respiratory syncytial virus infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory syncytial virus infections; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory syncytial virus infections; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; respiratory hypersensitivity; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; respiratory hypersensitivity; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; prenatal exposure delayed effects; respiratory hypersensitivity; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; prenatal exposure delayed effects; respiratory hypersensitivity; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute respiratory tract infection Gene Set

From HPO Gene-Disease Associations

genes associated with the acute respiratory tract infection phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

blood pressure, oxidative stress levels in blood Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood pressure, oxidative stress levels in blood in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood and blood forming organ disorders Gene Set

From GAD Gene-Disease Associations

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

blood coagulation disorders; blood coagulation disorders, inherited; recurrence; thromboembolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

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

renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure Gene Set

From GO Biological Process Annotations

genes participating in the renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure biological process from the curated GO Biological Process Annotations dataset.

abnormality of blood and blood-forming tissues Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of blood and blood-forming tissues phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of blood and blood-forming tissues Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of blood and blood-forming tissues phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mononuclear Gene Set

From GeneRIF Biological Term Annotations

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

mononuclear cell migration Gene Set

From GO Biological Process Annotations

genes participating in the mononuclear cell migration biological process from the curated GO Biological Process Annotations dataset.

mononuclear cell proliferation Gene Set

From GO Biological Process Annotations

genes participating in the mononuclear cell proliferation biological process from the curated GO Biological Process Annotations dataset.

regulation of mononuclear cell migration Gene Set

From GO Biological Process Annotations

genes participating in the regulation of mononuclear cell migration biological process from the curated GO Biological Process Annotations dataset.

positive regulation of mononuclear cell migration Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of mononuclear cell migration biological process from the curated GO Biological Process Annotations dataset.

regulation of mononuclear cell proliferation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of mononuclear cell proliferation biological process from the curated GO Biological Process Annotations dataset.

positive regulation of mononuclear cell proliferation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of mononuclear cell proliferation biological process from the curated GO Biological Process Annotations dataset.

negative regulation of mononuclear cell proliferation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of mononuclear cell proliferation biological process from the curated GO Biological Process Annotations dataset.

negative regulation of mononuclear cell migration Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of mononuclear cell migration biological process from the curated GO Biological Process Annotations dataset.

abnormal mononuclear cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal mononuclear cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal mononuclear phagocyte morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal mononuclear phagocyte morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal mononuclear cell differentiation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal mononuclear cell differentiation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

mononuclear cell Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue mononuclear cell from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

mononuclear phagocyte Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue mononuclear phagocyte from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

mononuclear cell Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue mononuclear cell in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

mononuclear phagocyte Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue mononuclear phagocyte in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

mononuclear phagocyte Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue mononuclear phagocyte in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

mononuclear cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue mononuclear cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myeloid, acute; leukemias, acute myeloblastic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myeloid, acute; leukemias, acute myeloblastic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heroin dependence; kidney failure, acute; liver failure, acute Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heroin dependence; kidney failure, acute; liver failure, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid, acute; leukemias, acute myeloblastic; multiple myeloma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, myelogenous, chronic, bcr-abl positive; leukemia, myeloid, acute; leukemias, acute myeloblastic; multiple myeloma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, lymphocytic, acute, l1; leukemia, lymphocytic, acute, l2; leukemia, pre-b-cell; precursor b-cell lymphoblastic leukemia-lymphoma; precursor cell lymphoblastic leukemia-lymphoma; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, lymphocytic, acute, l1; leukemia, lymphocytic, acute, l2; leukemia, pre-b-cell; precursor b-cell lymphoblastic leukemia-lymphoma; precursor cell lymphoblastic leukemia-lymphoma; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lymphocytic leukemia; leukemia, myeloid, acute; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lymphocytic leukemia; leukemia, myeloid, acute; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukemia, lymphocytic, acute, l1; leukemia, lymphocytic, acute, l2; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, lymphocytic, acute, l1; leukemia, lymphocytic, acute, l2; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lymphocytic leukemia; acute myelogenous leukemia; B cell lymphoma Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease acute lymphocytic leukemia; acute myelogenous leukemia; B cell lymphoma from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

acute lymphocytic leukemia; acute myelogenous leukemia; chronic myelogenous leukemia Gene Set

From PhosphoSitePlus Phosphosite-Disease Associations

proteins associated with the disease acute lymphocytic leukemia; acute myelogenous leukemia; chronic myelogenous leukemia from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.

hyper-ige syndrome and severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome and severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyper-ige syndrome. severe eczema. atopy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyper-ige syndrome. severe eczema. atopy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Respiratory Distress Syndrome, Newborn Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory Distress Syndrome, Newborn from the curated CTD Gene-Disease Associations dataset.

Respiratory Distress Syndrome, Adult Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory Distress Syndrome, Adult from the curated CTD Gene-Disease Associations dataset.

adult respiratory distress syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

newborn respiratory distress syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

pneumonia; respiratory distress syndrome, newborn; sepsis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pneumonia; respiratory distress syndrome, newborn; sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multiple organ failure; respiratory distress syndrome, adult; sepsis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multiple organ failure; respiratory distress syndrome, adult; sepsis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome Gene Set

From GAD Gene-Disease Associations

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

bronchopulmonary dysplasia; respiratory distress syndrome, neonatal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome, neonatal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome, neonatal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory distress syndrome (rds) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory distress syndrome (rds) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory-distress syndrome Gene Set

From GAD Gene-Disease Associations

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

critical illness; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease critical illness; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

community-acquired infections; pneumonia; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease community-acquired infections; pneumonia; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Respiratory Distress Syndrome, Newborn Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Respiratory Distress Syndrome, Newborn phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Respiratory Distress Syndrome, Adult Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Respiratory Distress Syndrome, Adult phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

body mass; insulin; lipids; left ventricular hypertrophy; glucose; blood pressure, arterial; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease body mass; insulin; lipids; left ventricular hypertrophy; glucose; blood pressure, arterial; metabolic syndrome 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.

blood coagulation disorders; eclampsia; hellp syndrome; pre-eclampsia; pregnancy complications, hematologic; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; eclampsia; hellp syndrome; pre-eclampsia; pregnancy complications, hematologic; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

sars Gene Set

From GAD Gene-Disease Associations

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

sars-coronavirus Gene Set

From GAD Gene-Disease Associations

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

sars infection Gene Set

From GAD Gene-Disease Associations

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

sars Gene Set

From GeneRIF Biological Term Annotations

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

SARS-CoV NSP16_Day2_None_GSE49263 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV NSP16_Day2_None_GSE49263 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-CXCR3KO_None_GSE50878 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-CXCR3KO_None_GSE50878 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day2_None_GSE49263 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day2_None_GSE49263 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day2_None_GSE49262 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day2_None_GSE49262 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_24Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_24Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_96Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_96Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4-C57BL6_None_GSE51386 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4-C57BL6_None_GSE51386 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day2-PFU-10^4_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day2-PFU-10^4_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4-PFU-10^3_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4-PFU-10^3_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_12Hour_20090954_GSE17400 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_12Hour_20090954_GSE17400 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day2-PFU-10^2_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day2-PFU-10^2_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_0Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_0Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_60Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_60Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_24Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_24Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_48Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_48Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_48Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_48Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_0Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_0Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_0Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_0Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day2-PFU-10^4_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day2-PFU-10^4_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day1-PFU-10^4_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day1-PFU-10^4_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_84Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_84Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_84Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_84Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_84Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_84Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4-PFU-10^4_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4-PFU-10^4_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_Day7_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_Day7_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-PFU-10^4_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-PFU-10^4_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4_None_GSE49263 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4_None_GSE49263 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4_None_GSE49262 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4_None_GSE49262 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_12Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_12Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_12Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_12Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day1-PFU-10^5_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day1-PFU-10^5_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_24Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_24Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day1-PFU-10^4_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day1-PFU-10^4_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day2-PFU-10^5_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day2-PFU-10^5_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_72Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_72Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_72Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_72Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_72Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_72Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-ddORF6_60Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-ddORF6_60Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day2-PFU-10^5_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day2-PFU-10^5_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_60Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_60Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_60Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_60Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-ddORF6_48Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-ddORF6_48Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4-PFU-10^4_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4-PFU-10^4_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_96Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_96Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_96Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_96Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7_None_GSE49263 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7_None_GSE49263 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day1-PFU-10^2_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day1-PFU-10^2_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_48Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_48Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_60Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_60Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_96Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_96Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_96Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_96Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_96Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_96Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day2-C57BL6_None_GSE50878 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day2-C57BL6_None_GSE50878 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-ddORF6_96Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-ddORF6_96Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-C57BL6_None_GSE51386 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-C57BL6_None_GSE51386 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-ddORF6_84Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-ddORF6_84Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-C57BL-6_None_GSE40824 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-C57BL-6_None_GSE40824 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_Day4_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_Day4_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_72Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_72Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_84Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_84Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_72Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_72Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_84Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_84Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4-PFU-10^2_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4-PFU-10^2_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4-PFU-10^5_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4-PFU-10^5_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_72Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_72Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_72Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_72Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_72Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_72Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_60Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_60Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4-PFU-10^5_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4-PFU-10^5_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_24Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_24Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-PFU-10^3_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-PFU-10^3_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day1-PFU-10^5_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day1-PFU-10^5_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-ddORF6_24Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-ddORF6_24Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_0Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_0Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_0Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_0Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-PFU-10^4_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-PFU-10^4_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-ddORF6_72Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-ddORF6_72Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_24Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_24Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_24Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_24Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-PFU-10^2_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-PFU-10^2_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_48Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_48Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_48Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_48Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day1_None_GSE49262 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day1_None_GSE49262 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day2-PFU-10^3_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day2-PFU-10^3_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4-C57BL-6_None_GSE40824 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4-C57BL-6_None_GSE40824 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-C57BL6_None_GSE50878 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-C57BL6_None_GSE50878 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_48Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_48Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_48Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_48Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_48Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_48Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-PFU-10^5_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-PFU-10^5_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_0Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_0Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_60Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_60Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_60Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_60Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_60Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_60Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_96Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_96Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_96Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_96Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_0Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_0Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_0Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_0Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV NSP16_Day4_None_GSE49263 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV NSP16_Day4_None_GSE49263 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_12Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_12Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day7-PFU-10^5_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day7-PFU-10^5_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_12Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_12Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_12Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_12Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_12Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_12Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day4-TNFRsf1b KO_None_GSE40824 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day4-TNFRsf1b KO_None_GSE40824 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_36Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_36Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-dORF6_36Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-dORF6_36Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV NSP16_Day7_None_GSE49263 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV NSP16_Day7_None_GSE49263 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_36Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_36Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_84Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_84Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_84Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_84Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_84Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_84Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_24Hour_20090954_GSE17400 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_24Hour_20090954_GSE17400 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_36Hour_23935999_GSE47960 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_36Hour_23935999_GSE47960 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_Day1_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_Day1_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_36Hour_23935999_GSE47962 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_36Hour_23935999_GSE47962 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV MA15_Day1-PFU-10^3_None_GSE33266 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV MA15_Day1-PFU-10^3_None_GSE33266 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-BatSRBD_Day2_None_GSE50000 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-BatSRBD_Day2_None_GSE50000 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-CoV_48Hour_20090954_GSE17400 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-CoV_48Hour_20090954_GSE17400 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS-ddORF6_0Hour_23935999_GSE47961 Gene Set

From GEO Signatures of Differentially Expressed Genes for Viral Infections

genes differentially expressed following the SARS-ddORF6_0Hour_23935999_GSE47961 virus perturbation from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.

SARS Gene Set

From NURSA Protein-Protein Interactions

interacting proteins for SARS from the NURSA Protein-Protein Interactions dataset.

sars infection, protection against Gene Set

From OMIM Gene-Disease Associations

genes associated with the sars infection, protection against phenotype from the curated OMIM Gene-Disease Associations dataset.

{sars, progression of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {sars, progression of} phenotype from the curated OMIM Gene-Disease Associations dataset.

SARS Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for SARS from the Pathway Commons Protein-Protein Interactions dataset.

Human SARS coronavirus Gene Set

From Virus MINT Protein-Virus Interactions

interacting proteins for the virus Human SARS coronavirus from the Virus MINT Protein-Virus Interactions dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Acute Coronary Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acute Coronary Syndrome from the curated CTD Gene-Disease Associations dataset.

acute retinal necrosis syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

acute chest syndrome Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

acute coronary syndrome; diabetes complications; diabetes mellitus; obesity Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute coronary syndrome; myocardial infarction 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.

acute coronary syndrome; coronary disease Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; osteoporosis Gene Set

From GAD Gene-Disease Associations

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

hellp syndrome; acute fatty liver of pregnancy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hellp syndrome; acute fatty liver of pregnancy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute coronary syndrome; coronary artery disease; rupture, spontaneous Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; alveolar bone loss; angina pectoris; disease susceptibility; periodontitis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute coronary syndrome; alveolar bone loss; angina pectoris; disease susceptibility; periodontitis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute coronary syndrome; recurrence Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; coronary artery disease; Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; angina pectoris; coronary artery disease; Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; cardiovascular diseases; coronary artery disease; Gene Set

From GAD Gene-Disease Associations

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

hemolytic-uremic syndrome; kidney failure, acute Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemolytic-uremic syndrome; kidney failure, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute coronary syndrome; myocardial infarction; recurrence Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; atrial fibrillation; hemorrhage Gene Set

From GAD Gene-Disease Associations

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

atherosclerosis, coronary; acute coronary syndrome Gene Set

From GAD Gene-Disease Associations

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

down syndrome; leukemia, myeloid, acute Gene Set

From GAD Gene-Disease Associations

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

leukemia, promyelocytic, acute; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease leukemia, promyelocytic, acute; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute coronary syndrome; calcinosis; coronary artery disease Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; cardiovascular diseases Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; inflammation Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; aspirin resistance Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; coronary artery disease Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; angina pectoris; inflammation Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; coronary stenosis; diabetes complications; hypertension Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; dyslipidemias; hypertension Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; cardiovascular diseases; thrombosis Gene Set

From GAD Gene-Disease Associations

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

bloom syndrome; leukemia, myeloid, acute; melanoma; myelodysplastic syndromes; preleukemia; skin neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bloom syndrome; leukemia, myeloid, acute; melanoma; myelodysplastic syndromes; preleukemia; skin neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute coronary syndrome Gene Set

From GAD Gene-Disease Associations

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

acute coronary syndrome; Gene Set

From GAD Gene-Disease Associations

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

Acute Chest Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Acute Chest Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

X-linked severe combined immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked severe combined immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, reducing body, X-linked, early-onset, severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, reducing body, X-linked, early-onset, severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency due to ADA deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency 18, severe combined immunodeficiency variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency 18, severe combined immunodeficiency variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperparathyroidism, neonatal severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperparathyroidism, neonatal severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe autosomal recessive muscular dystrophy of childhood - North African type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe X-linked myotubular myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe X-linked myotubular myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, atypical Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, atypical phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe myoclonic epilepsy in infancy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe myoclonic epilepsy in infancy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, early-onset severe Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, early-onset severe phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, severe, due to leptin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sialic acid storage disease, severe infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Hyperparathyroidism, Neonatal Severe Primary Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperparathyroidism, Neonatal Severe Primary from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency from the curated CTD Gene-Disease Associations dataset.

Severe Dengue Gene Set

From CTD Gene-Disease Associations

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

Abnormalities, Severe Teratoid Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Abnormalities, Severe Teratoid from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 2 from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency due to adenosine deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Dominant 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset.

HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION from the curated CTD Gene-Disease Associations dataset.

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.

Severe combined immunodeficiency with sensitivity to ionizing radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe combined immunodeficiency with sensitivity to ionizing radiation from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, X-Linked from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities from the curated CTD Gene-Disease Associations dataset.

Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset.

Polycystic kidneys, severe infantile with tuberous sclerosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset.

Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Reducing Body, X-Linked, Early-Onset, Severe from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

severe congenital neutropenia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

severe congenital neutropenia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

severe nonproliferative diabetic retinopathy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

severe combined immunodeficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

severe pre-eclampsia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

severe type iii hyperlipoproteinemia Gene Set

From GAD Gene-Disease Associations

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

severe trauma. mortality Gene Set

From GAD Gene-Disease Associations

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

severe childhood thrombosis Gene Set

From GAD Gene-Disease Associations

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

severe desmoid phenotype Gene Set

From GAD Gene-Disease Associations

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

mild and severe substance abuse Gene Set

From GAD Gene-Disease Associations

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

severe malaria Gene Set

From GAD Gene-Disease Associations

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

severe hyperkinetic disorders Gene Set

From GAD Gene-Disease Associations

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

severe sepsis in blunt trauma Gene Set

From GAD Gene-Disease Associations

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

lymphopenia; scid; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lymphopenia; scid; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe ulcerative colitis Gene Set

From GAD Gene-Disease Associations

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

severe sepsis Gene Set

From GAD Gene-Disease Associations

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

severe chronic neutropenia Gene Set

From GAD Gene-Disease Associations

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

x-linked severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease x-linked severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe rsv bronchiolitis Gene Set

From GAD Gene-Disease Associations

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

outcome after severe injury Gene Set

From GAD Gene-Disease Associations

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

severe sepsis after trauma Gene Set

From GAD Gene-Disease Associations

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

immunologic deficiency syndromes; severe combined immunodeficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease immunologic deficiency syndromes; severe combined immunodeficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe photoaging of facial skin Gene Set

From GAD Gene-Disease Associations

genes associated with the disease severe photoaging of facial skin in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

severe Gene Set

From GeneRIF Biological Term Annotations

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

SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during SCID - Severe combined immunodeficiency_Lung Tissue_GSE3414 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Treatment response for severe sepsis Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Treatment response for severe sepsis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Acne (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Acne (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Myopia (severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Myopia (severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Chronic obstructive pulmonary disease (moderate to severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Chronic obstructive pulmonary disease (moderate to severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Asthma (childhood, severe) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Asthma (childhood, severe) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

severe osteoporosis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe osteoporosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe platyspondyly Gene Set

From HPO Gene-Disease Associations

genes associated with the severe platyspondyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe photosensitivity Gene Set

From HPO Gene-Disease Associations

genes associated with the severe photosensitivity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe hydrops fetalis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe hydrops fetalis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe carpal ossification delay Gene Set

From HPO Gene-Disease Associations

genes associated with the severe carpal ossification delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe lactic acidosis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe lactic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe t-cell immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the severe t-cell immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe combined immunodeficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the severe combined immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe recurrent varicella Gene Set

From HPO Gene-Disease Associations

genes associated with the severe recurrent varicella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe visual impairment Gene Set

From HPO Gene-Disease Associations

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

intellectual disability, severe Gene Set

From HPO Gene-Disease Associations

genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe hydrocephalus Gene Set

From HPO Gene-Disease Associations

genes associated with the severe hydrocephalus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe failure to thrive Gene Set

From HPO Gene-Disease Associations

genes associated with the severe failure to thrive phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe b lymphocytopenia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe b lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe intrauterine growth retardation Gene Set

From HPO Gene-Disease Associations

genes associated with the severe intrauterine growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe short-limb dwarfism Gene Set

From HPO Gene-Disease Associations

genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the severe hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe muscular hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe demyelination of the white matter Gene Set

From HPO Gene-Disease Associations

genes associated with the severe demyelination of the white matter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe sensorineural hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the severe sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe t lymphocytopenia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe t lymphocytopenia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe myopia Gene Set

From HPO Gene-Disease Associations

genes associated with the severe myopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe limb shortening Gene Set

From HPO Gene-Disease Associations

genes associated with the severe limb shortening phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe periodontitis Gene Set

From HPO Gene-Disease Associations

genes associated with the severe periodontitis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe postnatal growth retardation Gene Set

From HPO Gene-Disease Associations

genes associated with the severe postnatal growth retardation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

severe global developmental delay Gene Set

From HPO Gene-Disease Associations

genes associated with the severe global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Severe Combined Immunodeficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

mental retardation, severe, with spasticity and tapetoretinal degeneration Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to il2 deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to il2 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal dystrophy, early-onset severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal dystrophy, early-onset severe phenotype from the curated OMIM Gene-Disease Associations dataset.

ulna and fibula, absence of, with severe limb deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ulna and fibula, absence of, with severe limb deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

insulin resistance, severe, digenic Gene Set

From OMIM Gene-Disease Associations

genes associated with the insulin resistance, severe, digenic phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 1, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 1, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

{obesity, severe, susceptibility to, bmiq9} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {obesity, severe, susceptibility to, bmiq9} phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency due to ada deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency due to ada deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

encephalopathy, neonatal severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the encephalopathy, neonatal severe phenotype from the curated OMIM Gene-Disease Associations dataset.

{obesity, severe, and type ii diabetes} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {obesity, severe, and type ii diabetes} phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

obesity, severe Gene Set

From OMIM Gene-Disease Associations

genes associated with the obesity, severe phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated OMIM Gene-Disease Associations dataset.

{influenza, severe, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {influenza, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, b cell-negative Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, b cell-negative phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, athabascan type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, athabascan type phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney disease, infantile severe, with tuberous sclerosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

pulmonary disease, chronic obstructive, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the pulmonary disease, chronic obstructive, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From OMIM Gene-Disease Associations

genes associated with the alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

{malaria, severe, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, severe, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

{malaria, severe, resistance to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {malaria, severe, resistance to} phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, reducing body, x-linked, severe early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, reducing body, x-linked, severe early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

severe combined immunodeficiency, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the severe combined immunodeficiency, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 2, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 2, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

rostral ventral respiratory cell group Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in rostral ventral respiratory cell group relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary myopathy with early respiratory failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary myopathy with early respiratory failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

mitochondrial respiratory chain complex ii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain complex ii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex iv Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain complex iv cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex i Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain complex i cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

respiratory chain complex iv Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the respiratory chain complex iv cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

respiratory chain complex ii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the respiratory chain complex ii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

respiratory chain complex i Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the respiratory chain complex i cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

respiratory chain Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the respiratory chain cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

respiratory chain complex iii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the respiratory chain complex iii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex iii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial respiratory chain complex iii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex iv Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial respiratory chain complex iv cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex i Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial respiratory chain complex i cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

respiratory chain complex ii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the respiratory chain complex ii cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane respiratory chain Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane respiratory chain cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

respiratory chain complex iv Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the respiratory chain complex iv cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain supercomplex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial respiratory chain supercomplex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

respiratory chain complex i Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the respiratory chain complex i cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial respiratory chain cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

respiratory chain Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the respiratory chain cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

respiratory chain complex iii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the respiratory chain complex iii cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex ii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial respiratory chain complex ii cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial respiratory chain complex iii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial respiratory chain complex iii cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Respiratory chain complex I, mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I, mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (incomplete NDUFAF1 assembly), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (incomplete NDUFAF1 assembly), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate VII/650kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate VII/650kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (lambda subunit) mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (lambda subunit) mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (gamma subunit) mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (gamma subunit) mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (beta subunit) mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (beta subunit) mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate IV/310kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate IV/310kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (incomplete intermediate), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (incomplete intermediate), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (incomplete intermediate ND1, ND2, ND3, CIA30 assembly), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (incomplete intermediate ND1, ND2, ND3, CIA30 assembly), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (holoenzyme), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (holoenzyme), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate II/230kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate II/230kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (early intermediate NDUFAF1 assembly), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (early intermediate NDUFAF1 assembly), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Respiratory Sounds Gene Set

From CTD Gene-Disease Associations

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

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset.

Respiratory Tract Infections Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory Tract Infections from the curated CTD Gene-Disease Associations dataset.

Spinal muscular atrophy with respiratory distress 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal muscular atrophy with respiratory distress 1 from the curated CTD Gene-Disease Associations dataset.

Respiratory Tract Diseases Gene Set

From CTD Gene-Disease Associations

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

Hereditary Myopathy with Early Respiratory Failure Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Myopathy with Early Respiratory Failure from the curated CTD Gene-Disease Associations dataset.

Respiratory System Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory System Abnormalities from the curated CTD Gene-Disease Associations dataset.

Granuloma, Respiratory Tract Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granuloma, Respiratory Tract from the curated CTD Gene-Disease Associations dataset.

Respiratory Syncytial Virus Infections Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Respiratory Syncytial Virus Infections from the curated CTD Gene-Disease Associations dataset.

Respiratory Insufficiency Gene Set

From CTD Gene-Disease Associations

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

Respiratory Paralysis Gene Set

From CTD Gene-Disease Associations

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

Acidosis, Respiratory Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acidosis, Respiratory from the curated CTD Gene-Disease Associations dataset.

Signs and Symptoms, Respiratory Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Signs and Symptoms, Respiratory from the curated CTD Gene-Disease Associations dataset.

Respiratory Hypersensitivity Gene Set

From CTD Gene-Disease Associations

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

Respiratory Function Tests Gene Set

From dbGAP Gene-Trait Associations

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

respiratory system disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

lower respiratory tract disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

respiratory system disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

respiratory system cancer Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

lower respiratory tract disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

upper respiratory tract disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

lower respiratory tract disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

upper respiratory tract disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

respiratory failure Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

respiratory system disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

respiratory bronchiolitis-associated interstitial lung disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease respiratory bronchiolitis-associated interstitial lung disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

respiratory system benign neoplasm Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

neonatal respiratory failure Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

respiratory system cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

respiratory syncytial virus infection Gene Set

From GAD Gene-Disease Associations

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

respiratory papillomatosis Gene Set

From GAD Gene-Disease Associations

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

gastrointestinal hemorrhage; haematuria; hematuria; henoch-schoenlein purpura; purpura, schoenlein-henoch; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gastrointestinal hemorrhage; haematuria; hematuria; henoch-schoenlein purpura; purpura, schoenlein-henoch; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory function tests Gene Set

From GAD Gene-Disease Associations

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

asthma; prenatal exposure delayed effects; respiratory sounds Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; prenatal exposure delayed effects; respiratory sounds in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory hypersensitivity Gene Set

From GAD Gene-Disease Associations

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

respiratory papillomatosis, juvenile-onset; recurrent Gene Set

From GAD Gene-Disease Associations

genes associated with the disease respiratory papillomatosis, juvenile-onset; recurrent in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

respiratory syncytial virus disease Gene Set

From GAD Gene-Disease Associations

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

bronchiolitis, viral; respiratory syncytial virus infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchiolitis, viral; respiratory syncytial virus infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases; hypersensitivity; respiratory tract diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases; hypersensitivity; respiratory tract diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; eczema; food hypersensitivity; hypersensitivity, immediate; respiratory sounds; rhinitis, allergic, seasonal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; eczema; food hypersensitivity; hypersensitivity, immediate; respiratory sounds; rhinitis, allergic, seasonal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; respiratory sounds Gene Set

From GAD Gene-Disease Associations

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

asthma; hypersensitivity; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease asthma; hypersensitivity; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

child nutrition disorders; cystic fibrosis; pseudomonas infections; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease child nutrition disorders; cystic fibrosis; pseudomonas infections; respiratory tract infections in GWAS and othe