Name

SERPINC1 Gene

serpin peptidase inhibitor, clade C (antithrombin), member 1

The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]

LOC105378951 Gene

collagen alpha-1(III) chain-like

SYT3 Gene

synaptotagmin III

PLA2G3 Gene

phospholipase A2, group III

This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimer's disease. [provided by RefSeq, Apr 2014]

IGHVIII-26-1 Gene

immunoglobulin heavy variable (III)-26-1 (pseudogene)

LOC105371176 Gene

Ig heavy chain V-III region VH26-like

FSD1L Gene

fibronectin type III and SPRY domain containing 1-like

FANK1 Gene

fibronectin type III and ankyrin repeat domains 1

DROSHA Gene

drosha, ribonuclease type III

Members of the ribonuclease III superfamily of double-stranded (ds) RNA-specific endoribonucleases participate in diverse RNA maturation and decay pathways in eukaryotic and prokaryotic cells (Fortin et al., 2002 [PubMed 12191433]). The RNase III Drosha is the core nuclease that executes the initiation step of microRNA (miRNA) processing in the nucleus (Lee et al., 2003 [PubMed 14508493]).[supplied by OMIM, Mar 2008]

POLR3GP2 Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 2

POLR3GP1 Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 1

ANKFN1 Gene

ankyrin-repeat and fibronectin type III domain containing 1

LOC102725101 Gene

Ig heavy chain V-III region VH26-like

LOC101059944 Gene

collagen alpha-1(III) chain-like

APOC3 Gene

apolipoprotein C-III

Apolipoprotein C-III is a very low density lipoprotein (VLDL) protein. APOC3 inhibits lipoprotein lipase and hepatic lipase; it is thought to delay catabolism of triglyceride-rich particles. The APOA1, APOC3 and APOA4 genes are closely linked in both rat and human genomes. The A-I and A-IV genes are transcribed from the same strand, while the A-1 and C-III genes are convergently transcribed. An increase in apoC-III levels induces the development of hypertriglyceridemia. [provided by RefSeq, Jul 2008]

LOC101060521 Gene

DNA-directed RNA polymerase III subunit RPC5

POLR3F Gene

polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa

The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

POLR3G Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD)

POLR3D Gene

polymerase (RNA) III (DNA directed) polypeptide D, 44kDa

This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]

POLR3E Gene

polymerase (RNA) III (DNA directed) polypeptide E (80kD)

POLR3B Gene

polymerase (RNA) III (DNA directed) polypeptide B

This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

POLR3C Gene

polymerase (RNA) III (DNA directed) polypeptide C (62kD)

POLR3A Gene

polymerase (RNA) III (DNA directed) polypeptide A, 155kDa

The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

POLR3K Gene

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa

This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]

POLR3H Gene

polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)

LOC105379546 Gene

Ig heavy chain V-III region VH26-like

LOC105379541 Gene

Ig heavy chain V-III region VH26-like

SYN3 Gene

synapsin III

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]

TUBB3P1 Gene

tubulin, beta 3 class III pseudogene 1

IGHVIII-44 Gene

immunoglobulin heavy variable (III)-44 (pseudogene)

GTF2IP1 Gene

general transcription factor IIi pseudogene 1

GTF2IP3 Gene

general transcription factor IIi pseudogene 3

GTF2IP2 Gene

general transcription factor IIi pseudogene 2

GTF2IP5 Gene

general transcription factor IIi pseudogene 5

GTF2IP4 Gene

general transcription factor IIi, pseudogene 4

GTF2IP6 Gene

general transcription factor IIi pseudogene 6

FNDC8 Gene

fibronectin type III domain containing 8

FNDC9 Gene

fibronectin type III domain containing 9

FNDC4 Gene

fibronectin type III domain containing 4

FNDC5 Gene

fibronectin type III domain containing 5

This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

FNDC1 Gene

fibronectin type III domain containing 1

LOC644310 Gene

ubiquinol-cytochrome c reductase, complex III subunit X pseudogene

ADH5P2 Gene

alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 2

POLR3KP2 Gene

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 2

POLR3KP1 Gene

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 1

IGHVIII-2-1 Gene

immunoglobulin heavy variable (III)-2-1 (pseudogene)

IGHVIII-16-1 Gene

immunoglobulin heavy variable (III)-16-1 (pseudogene)

GTF2IP20 Gene

general transcription factor IIi pseudogene 20

LIG3 Gene

ligase III, DNA, ATP-dependent

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LOC105372231 Gene

collagen alpha-1(III) chain-like

SCN3A Gene

sodium channel, voltage gated, type III alpha subunit

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SCN3B Gene

sodium channel, voltage gated, type III beta subunit

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

PAQR3 Gene

progestin and adipoQ receptor family member III

UQCR10 Gene

ubiquinol-cytochrome c reductase, complex III subunit X

UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]

UQCR11 Gene

ubiquinol-cytochrome c reductase, complex III subunit XI

This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009]

ADH5P4 Gene

alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 4

ADH5P3 Gene

alcohol dehydrogenase 5 (class III), chi polypeptide, pseudogene 3

UQCRQ Gene

ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa

This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]

TOP3BP1 Gene

topoisomerase (DNA) III beta pseudogene 1

This gene was predicted by automated computational analysis. It encodes a protein with similarity to human topoisomerase (DNA) III beta, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]

PADI3 Gene

peptidyl arginine deiminase, type III

This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

LOC102723387 Gene

Ig heavy chain V-III region J606-like

CDAN3 Gene

congenital dyserythropoietic anemia, type III

IGHVIII-47-1 Gene

immunoglobulin heavy variable (III)-47-1 (pseudogene)

UROS Gene

uroporphyrinogen III synthase

The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]

IGFN1 Gene

immunoglobulin-like and fibronectin type III domain containing 1

ICR3 Gene

ichthyosis congenita III, vulgaris-like recessive ichthyosis

FNDC3A Gene

fibronectin type III domain containing 3A

FNDC3B Gene

fibronectin type III domain containing 3B

GTF2IP8 Gene

general transcription factor IIi pseudogene 8

IGHVIII-25-1 Gene

immunoglobulin heavy variable (III)-25-1 (pseudogene)

ADH5 Gene

alcohol dehydrogenase 5 (class III), chi polypeptide

This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]

DIO3 Gene

deiodinase, iodothyronine, type III

The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4) and the bioactive hormone 3,3',5-triiodothyronine (T3) to inactive metabolites, 3,3',5'-triiodothyronine (RT3) and 3,3'-diiodothyronine (T2), respectively. This enzyme is highly expressed in the pregnant uterus, placenta, fetal and neonatal tissues, suggesting that it plays an essential role in the regulation of thyroid hormone inactivation during embryological development. This protein contains a selenocysteine (Sec) residue, which is essential for efficient enzyme activity. The selenocysteine is encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. [provided by RefSeq, Jul 2008]

BRF2 Gene

BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit

This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]

BRF1 Gene

BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]

IGHVIII-67-4 Gene

immunoglobulin heavy variable (III)-67-4 (pseudogene)

IGHVIII-67-2 Gene

immunoglobulin heavy variable (III)-67-2 (pseudogene)

IGHVIII-67-3 Gene

immunoglobulin heavy variable (III)-67-3 (pseudogene)

LOC105379421 Gene

collagen alpha-1(III) chain-like

LOC100422267 Gene

coagulation factor III (thromboplastin, tissue factor) pseudogene

POLR3GL Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like

CA3 Gene

carbonic anhydrase III

Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]

IGHVIII-22-2 Gene

immunoglobulin heavy variable (III)-22-2 (pseudogene)

FSD1 Gene

fibronectin type III and SPRY domain containing 1

This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]

FSD2 Gene

fibronectin type III and SPRY domain containing 2

This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

IGHVIII-51-1 Gene

immunoglobulin heavy variable (III)-51-1 (pseudogene)

TUBB3 Gene

tubulin, beta 3 class III

This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]

FNDC7 Gene

fibronectin type III domain containing 7

DICER1 Gene

dicer 1, ribonuclease type III

This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]

LOC105373982 Gene

collagen alpha-1(III) chain-like

LOC100652743 Gene

ig kappa chain V-III region VH-like pseudogene

MT-CO3 Gene

cytochrome c oxidase III

P4HA3 Gene

prolyl 4-hydroxylase, alpha polypeptide III

This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LOC105379210 Gene

Ig heavy chain V-III region VH26-like

LOC100190934 Gene

alcohol dehydrogenase 5 (class III), chi polypeptide pseudogene

CPNE3 Gene

copine III

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008]

LOC102725144 Gene

collagen alpha-1(III) chain-like

IGHVIII-76-1 Gene

immunoglobulin heavy variable (III)-76-1 (pseudogene)

SCG3 Gene

secretogranin III

The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

LOC101927503 Gene

collagen alpha-1(III) chain-like

EGFLAM Gene

EGF-like, fibronectin type III and laminin G domains

TUBB3P2 Gene

tubulin, beta 3 class III pseudogene 2

TGFBR3 Gene

transforming growth factor, beta receptor III

This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]

POLR3DP1 Gene

polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene 1

LOC105373289 Gene

collagen alpha-1(III) chain-like

LRFN5 Gene

leucine rich repeat and fibronectin type III domain containing 5

IGHVIII-5-2 Gene

immunoglobulin heavy variable (III)-5-2 (pseudogene)

IGHVIII-5-1 Gene

immunoglobulin heavy variable (III)-5-1 (pseudogene)

IGHVIII-38-1 Gene

immunoglobulin heavy variable (III)-38-1 (pseudogene)

LRFN3 Gene

leucine rich repeat and fibronectin type III domain containing 3

LRFN2 Gene

leucine rich repeat and fibronectin type III domain containing 2

LRFN1 Gene

leucine rich repeat and fibronectin type III domain containing 1

LRFN4 Gene

leucine rich repeat and fibronectin type III domain containing 4

IGHVIII-82 Gene

immunoglobulin heavy variable (III)-82 (pseudogene)

LOC100289371 Gene

mitochondrially encoded cytochrome c oxidase III pseudogene

IGHVIII-11-1 Gene

immunoglobulin heavy variable (III)-11-1 (pseudogene)

TGFBR3L Gene

transforming growth factor, beta receptor III-like

IGHVIII-13-1 Gene

immunoglobulin heavy variable (III)-13-1 (pseudogene)

TOP3A Gene

topoisomerase (DNA) III alpha

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. [provided by RefSeq, Jul 2008]

TOP3B Gene

topoisomerase (DNA) III beta

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

BDP1 Gene

B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB

The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]

F3 Gene

coagulation factor III (thromboplastin, tissue factor)

This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

FNDC3CP Gene

fibronectin type III domain containing 3C, pseudogene

NTHL1 Gene

nth endonuclease III-like 1 (E. coli)

The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]

LOC101928728 Gene

collagen alpha-1(III) chain-like

COL3A1 Gene

collagen, type III, alpha 1

This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

GTF2I Gene

general transcription factor IIi

This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]

LOC105375110 Gene

collagen alpha-1(III) chain-like

ELFN1 Gene

extracellular leucine-rich repeat and fibronectin type III domain containing 1

ELFN2 Gene

extracellular leucine-rich repeat and fibronectin type III domain containing 2

Antithrombin III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antithrombin III Deficiency Gene Set

From CTD Gene-Disease Associations

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

antithrombin iii deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

antithrombin iii deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

Antithrombin III Deficiency Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

antithrombin iii deficiency; cerebral infarction; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; cerebral infarction; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; coronary thrombosis; myocardial infarction Gene Set

From GAD Gene-Disease Associations

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

thrombophilia due to antithrombin iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to antithrombin iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

reduced antithrombin iii activity Gene Set

From HPO Gene-Disease Associations

genes associated with the reduced antithrombin iii activity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Antithrombin-III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Antithrombin-III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

antithrombin Gene Set

From GeneRIF Biological Term Annotations

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

abnormal circulating antithrombin level Gene Set

From MPO Gene-Phenotype Associations

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

decreased circulating antithrombin level Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased circulating antithrombin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hemorrhagic diathesis due to 'antithrombin' pittsburgh Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemorrhagic diathesis due to 'antithrombin' pittsburgh phenotype from the curated OMIM Gene-Disease Associations dataset.

DNA ligase III-XRCC1-PNK-DNA-pol III multiprotein complex Gene Set

From CORUM Protein Complexes

proteins in the DNA ligase III-XRCC1-PNK-DNA-pol III multiprotein complex protein complex from the CORUM Protein Complexes dataset.

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

From GAD Gene-Disease Associations

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

LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex III deficiency, nuclear type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte Adhesion Deficiency, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Complex III Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset.

methionine adenosyltransferase i/iii deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease methionine adenosyltransferase i/iii deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

leukocyte adhesion deficiency, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukocyte adhesion deficiency, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

apoa-i and apoc-iii deficiency, combined Gene Set

From OMIM Gene-Disease Associations

genes associated with the apoa-i and apoc-iii deficiency, combined phenotype from the curated OMIM Gene-Disease Associations dataset.

?mitochondrial complex iii deficiency, nuclear type 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex iii deficiency, nuclear type 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mitochondrial complex iii deficiency, nuclear type 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex iii deficiency, nuclear type 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mitochondrial complex iii deficiency, nuclear type 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex iii deficiency, nuclear type 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mitochondrial complex iii deficiency, nuclear type 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mitochondrial complex iii deficiency, nuclear type 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

apolipoprotein c-iii deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the apolipoprotein c-iii deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

mitochondrial complex iii deficiency, nuclear type 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mitochondrial complex iii deficiency, nuclear type 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

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

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

From CTD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From GAD Gene-Disease Associations

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

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

From Reactome Pathways

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

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

From Reactome Pathways

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

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

From Reactome Pathways

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

III, right, paravermis Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in III, right, paravermis relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

III, left, paravermis Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in III, left, paravermis relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

III Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in III relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

III, left, lateral hemisphere Gene Set

From Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles

genes with high or low expression in III, left, lateral hemisphere relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.

Lobule III Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Lobule III relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Lobule III, molecular layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Lobule III, molecular layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Lobule III, granular layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Lobule III, granular layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

layer III of area 35c Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in layer III of area 35c relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

layer III of piriform cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in layer III of piriform cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

layer III of rostral entorhinal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in layer III of rostral entorhinal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

layer III of caudal entorhinal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in layer III of caudal entorhinal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

rna polymerase iii transcription Gene Set

From Biocarta Pathways

proteins participating in the rna polymerase iii transcription pathway from the Biocarta Pathways dataset.

Hyperammonemia, type III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperammonemia, type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mucolipidosis III Gamma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mucolipidosis III Gamma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary hyperoxaluria, type III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary hyperoxaluria, type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lattice corneal dystrophy Type III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lattice corneal dystrophy Type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycogen storage disease type III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycogen storage disease type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteogenesis imperfecta type III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteogenesis imperfecta type III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mucopolysaccharidosis, MPS-III-A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mucopolysaccharidosis, MPS-III-A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mucopolysaccharidosis, MPS-III-C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mucopolysaccharidosis, MPS-III-C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mucopolysaccharidosis, MPS-III-B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mucopolysaccharidosis, MPS-III-B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mucopolysaccharidosis, MPS-III-D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mucopolysaccharidosis, MPS-III-D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HYPERALDOSTERONISM, FAMILIAL, TYPE III Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HYPERALDOSTERONISM, FAMILIAL, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

phosphatidylinositol 3-kinase complex, class iii Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the phosphatidylinositol 3-kinase complex, class iii cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

rna polymerase iii transcription factor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the rna polymerase iii transcription factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

collagen type iii trimer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the collagen type iii trimer 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.

type iii intermediate filament Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the type iii intermediate filament cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

dna-directed rna polymerase iii complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dna-directed rna polymerase iii complex 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.

dna polymerase iii complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

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

escrt iii complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

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

recq helicase-topo iii complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

phosphatidylinositol 3-kinase complex, class iii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex, class iii cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

type iii protein secretion system complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

escrt iii complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

dna polymerase iii complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

collagen type iii trimer Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

ribonuclease iii complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

phosphatidylinositol 3-kinase complex, class iii, type ii Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex, class iii, type ii 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.

dna ligase iii-xrcc1 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dna ligase iii-xrcc1 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

type iii polyketide synthase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

phosphatidylinositol 3-kinase complex, class iii, type i Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the phosphatidylinositol 3-kinase complex, class iii, type i 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.

type iii intermediate filament Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

TRF2-Rap1 complex III Gene Set

From CORUM Protein Complexes

proteins in the TRF2-Rap1 complex III protein complex from the CORUM Protein Complexes dataset.

BLM complex III Gene Set

From CORUM Protein Complexes

proteins in the BLM complex III protein complex from the CORUM Protein Complexes dataset.

BRCA1-BARD1-BRCA2-DNA damage complex III Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BRCA2-DNA damage complex III protein complex from the CORUM Protein Complexes dataset.

ESCRT-III complex Gene Set

From CORUM Protein Complexes

proteins in the ESCRT-III complex protein complex from the CORUM Protein Complexes dataset.

Prolyl 4-hydroxylase (alpha(III)-type) Gene Set

From CORUM Protein Complexes

proteins in the Prolyl 4-hydroxylase (alpha(III)-type) 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.

DNA ligase III-XRCC1 complex Gene Set

From CORUM Protein Complexes

proteins in the DNA ligase III-XRCC1 complex protein complex from the CORUM Protein Complexes dataset.

hexacyanoferrate III Gene Set

From CTD Gene-Chemical Interactions

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

manganese(III) acetate dihydrate Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical manganese(III) acetate dihydrate from the curated CTD Gene-Chemical Interactions dataset.

tetrakis(N-methyl-4-pyridiniumyl)porphine manganese(III) complex Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical tetrakis(N-methyl-4-pyridiniumyl)porphine manganese(III) complex from the curated CTD Gene-Chemical Interactions dataset.

sudan III Gene Set

From CTD Gene-Chemical Interactions

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

coproporphyrinogen III Gene Set

From CTD Gene-Chemical Interactions

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

iron(III)-ascorbic acid complex Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical iron(III)-ascorbic acid complex from the curated CTD Gene-Chemical Interactions dataset.

curcumin III Gene Set

From CTD Gene-Chemical Interactions

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

manganese(III)-tetrakis(4-benzoic acid)porphyrin Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical manganese(III)-tetrakis(4-benzoic acid)porphyrin from the curated CTD Gene-Chemical Interactions dataset.

5,10,15,20-tetrakis(4-sulfonatophenyl)porphyrinato iron(III) chloride Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 5,10,15,20-tetrakis(4-sulfonatophenyl)porphyrinato iron(III) chloride from the curated CTD Gene-Chemical Interactions dataset.

Mn(III) meso-tetrakis(N-n-butoxyethylpyridinium-2-yl)porphyrin Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Mn(III) meso-tetrakis(N-n-butoxyethylpyridinium-2-yl)porphyrin from the curated CTD Gene-Chemical Interactions dataset.

thallium(III) hydroxide Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical thallium(III) hydroxide from the curated CTD Gene-Chemical Interactions dataset.

imidazolium-bis(imidazole)dimethylsulfoxideimidazotetrachlororuthenate(III) Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical imidazolium-bis(imidazole)dimethylsulfoxideimidazotetrachlororuthenate(III) from the curated CTD Gene-Chemical Interactions dataset.

(dichloro)tetraammineruthenium(III) Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical (dichloro)tetraammineruthenium(III) from the curated CTD Gene-Chemical Interactions dataset.

angiotensin III, Ile(7)- Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical angiotensin III, Ile(7)- from the curated CTD Gene-Chemical Interactions dataset.

difructose anhydride III Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical difructose anhydride III from the curated CTD Gene-Chemical Interactions dataset.

Mn(III) 5,10,15,20-tetrakis(N-methylpyridinium-2-yl)porphyrin Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Mn(III) 5,10,15,20-tetrakis(N-methylpyridinium-2-yl)porphyrin from the curated CTD Gene-Chemical Interactions dataset.

tris(1,10-phenanthroline)chromium(III) chloride Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical tris(1,10-phenanthroline)chromium(III) chloride from the curated CTD Gene-Chemical Interactions dataset.

juvenile hormone III Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical juvenile hormone III from the curated CTD Gene-Chemical Interactions dataset.

manganese (III) meso-tetrakis(N-ethylpyridinium-2-yl)porphyrin Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical manganese (III) meso-tetrakis(N-ethylpyridinium-2-yl)porphyrin from the curated CTD Gene-Chemical Interactions dataset.

calpain inhibitor III Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical calpain inhibitor III from the curated CTD Gene-Chemical Interactions dataset.

XLF-III-43 Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical XLF-III-43 from the curated CTD Gene-Chemical Interactions dataset.

5,10,15,20-tetrakis(N-methyl-4'-pyridyl)porphyrinato-iron(III) Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical 5,10,15,20-tetrakis(N-methyl-4'-pyridyl)porphyrinato-iron(III) from the curated CTD Gene-Chemical Interactions dataset.

Amelogenesis Imperfecta, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amelogenesis Imperfecta, Type III from the curated CTD Gene-Disease Associations dataset.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset.

ATELOSTEOGENESIS, TYPE III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ATELOSTEOGENESIS, TYPE III from the curated CTD Gene-Disease Associations dataset.

Hereditary Angioedema Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Angioedema Type III from the curated CTD Gene-Disease Associations dataset.

Hyperlipoproteinemia Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyperlipoproteinemia Type III from the curated CTD Gene-Disease Associations dataset.

Glycogen Storage Disease Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycogen Storage Disease Type III from the curated CTD Gene-Disease Associations dataset.

Exostoses, Multiple, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Exostoses, Multiple, Type III from the curated CTD Gene-Disease Associations dataset.

Mucopolysaccharidosis III Gene Set

From CTD Gene-Disease Associations

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

MUCOLIPIDOSIS III ALPHA/BETA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUCOLIPIDOSIS III ALPHA/BETA from the curated CTD Gene-Disease Associations dataset.

Trichorhinophalangeal Syndrome, Type III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trichorhinophalangeal Syndrome, Type III from the curated CTD Gene-Disease Associations dataset.

Mucolipidosis III Gamma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mucolipidosis III Gamma from the curated CTD Gene-Disease Associations dataset.

HYPEROXALURIA, PRIMARY, TYPE III Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPEROXALURIA, PRIMARY, TYPE III from the curated CTD Gene-Disease Associations dataset.

mucopolysaccharidosis iii Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

hyperlipoproteinemia type iii Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

hypersensitivity reaction type iii disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

tyrosinemia type iii Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

glycogen storage disease iii Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

mucopolysaccharidosis iii Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

Heparin Disaccharide Iii-S Gene Set

From DrugBank Drug Targets

interacting proteins for the Heparin Disaccharide Iii-S drug from the curated DrugBank Drug Targets dataset.

Porphyrin Fe(Iii) Gene Set

From DrugBank Drug Targets

interacting proteins for the Porphyrin Fe(Iii) drug from the curated DrugBank Drug Targets dataset.

Coproporphyrin Iii Gene Set

From DrugBank Drug Targets

interacting proteins for the Coproporphyrin Iii drug from the curated DrugBank Drug Targets 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.

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

From GAD Gene-Disease Associations

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

familial type 3 hyperlipoproteinaemia; hyperlipoproteinemia type iii Gene Set

From GAD Gene-Disease Associations

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

glycogen storage disease type iii Gene Set

From GAD Gene-Disease Associations

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

insulin; apob; apoc-iii Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin; apob; apoc-iii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

triglycerides; insulin; lipoproteins; apob; apoc-iii Gene Set

From GAD Gene-Disease Associations

genes associated with the disease triglycerides; insulin; lipoproteins; apob; apoc-iii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperlipoproteinemia type iii; hypertriglyceridemia Gene Set

From GAD Gene-Disease Associations

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

type iii hyperlipoproteinemia Gene Set

From GAD Gene-Disease Associations

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

iii Gene Set

From GeneRIF Biological Term Annotations

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

uroporphyrinogen iii metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the uroporphyrinogen iii metabolic process biological process from the curated GO Biological Process Annotations dataset.

transcription elongation from rna polymerase iii promoter Gene Set

From GO Biological Process Annotations

genes participating in the transcription elongation from rna polymerase iii promoter biological process from the curated GO Biological Process Annotations dataset.

trna transcription from rna polymerase iii promoter Gene Set

From GO Biological Process Annotations

genes participating in the trna transcription from rna polymerase iii promoter biological process from the curated GO Biological Process Annotations dataset.

transcription initiation from rna polymerase iii promoter Gene Set

From GO Biological Process Annotations

genes participating in the transcription initiation from rna polymerase iii promoter biological process from the curated GO Biological Process Annotations dataset.

regulation of type iii interferon production Gene Set

From GO Biological Process Annotations

genes participating in the regulation of type iii interferon production biological process from the curated GO Biological Process Annotations dataset.

positive regulation of type iii interferon production Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of type iii interferon production biological process from the curated GO Biological Process Annotations dataset.

positive regulation of transcription from rna polymerase iii promoter Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of transcription from rna polymerase iii promoter biological process from the curated GO Biological Process Annotations dataset.

uroporphyrinogen iii biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the uroporphyrinogen iii biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of type iii hypersensitivity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of type iii hypersensitivity biological process from the curated GO Biological Process Annotations dataset.

response to type iii interferon Gene Set

From GO Biological Process Annotations

genes participating in the response to type iii interferon biological process from the curated GO Biological Process Annotations dataset.

snrna transcription from rna polymerase iii promoter Gene Set

From GO Biological Process Annotations

genes participating in the snrna transcription from rna polymerase iii promoter biological process from the curated GO Biological Process Annotations dataset.

termination of rna polymerase iii transcription Gene Set

From GO Biological Process Annotations

genes participating in the termination of rna polymerase iii transcription biological process from the curated GO Biological Process Annotations dataset.

5s class rrna transcription from rna polymerase iii type 1 promoter Gene Set

From GO Biological Process Annotations

genes participating in the 5s class rrna transcription from rna polymerase iii type 1 promoter biological process from the curated GO Biological Process Annotations dataset.

transcription from rna polymerase iii promoter Gene Set

From GO Biological Process Annotations

genes participating in the transcription from rna polymerase iii promoter biological process from the curated GO Biological Process Annotations dataset.

regulation of transcription from rna polymerase iii promoter Gene Set

From GO Biological Process Annotations

genes participating in the regulation of transcription from rna polymerase iii promoter biological process from the curated GO Biological Process Annotations dataset.

regulation of type iii hypersensitivity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of type iii hypersensitivity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of transcription from rna polymerase iii promoter Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of transcription from rna polymerase iii promoter biological process from the curated GO Biological Process Annotations dataset.

mitochondrial respiratory chain complex iii assembly Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial respiratory chain complex iii assembly biological process from the curated GO Biological Process Annotations dataset.

response to iron(iii) ion Gene Set

From GO Biological Process Annotations

genes participating in the response to iron(iii) ion biological process from the curated GO Biological Process Annotations dataset.

cellular response to iron(iii) ion Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to iron(iii) ion biological process from the curated GO Biological Process Annotations dataset.

mitochondrial respiratory chain complex iii biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial respiratory chain complex iii biogenesis biological process from the curated GO Biological Process Annotations dataset.

respiratory chain complex iii assembly Gene Set

From GO Biological Process Annotations

genes participating in the respiratory chain complex iii assembly biological process from the curated GO Biological Process Annotations dataset.

phosphatidylinositol 3-kinase complex, class iii Gene Set

From GO Cellular Component Annotations

proteins localized to the phosphatidylinositol 3-kinase complex, class iii cellular component from the curated GO Cellular Component Annotations dataset.

rna polymerase iii transcription factor complex Gene Set

From GO Cellular Component Annotations

proteins localized to the rna polymerase iii transcription factor complex cellular component from the curated GO Cellular Component Annotations dataset.

collagen type iii trimer Gene Set

From GO Cellular Component Annotations

proteins localized to the collagen type iii trimer cellular component from the curated GO Cellular Component Annotations dataset.

ribonuclease iii complex Gene Set

From GO Cellular Component Annotations

proteins localized to the ribonuclease iii complex cellular component from the curated GO Cellular Component Annotations dataset.

phosphatidylinositol 3-kinase complex, class iii, type i Gene Set

From GO Cellular Component Annotations

proteins localized to the phosphatidylinositol 3-kinase complex, class iii, type i cellular component from the curated GO Cellular Component Annotations dataset.

phosphatidylinositol 3-kinase complex, class iii, type ii Gene Set

From GO Cellular Component Annotations

proteins localized to the phosphatidylinositol 3-kinase complex, class iii, type ii cellular component from the curated GO Cellular Component Annotations dataset.

respiratory chain complex iii Gene Set

From GO Cellular Component Annotations

proteins localized to the respiratory chain complex iii cellular component from the curated GO Cellular Component Annotations dataset.

type iii intermediate filament Gene Set

From GO Cellular Component Annotations

proteins localized to the type iii intermediate filament cellular component from the curated GO Cellular Component Annotations dataset.

dna-directed rna polymerase iii complex Gene Set

From GO Cellular Component Annotations

proteins localized to the dna-directed rna polymerase iii complex cellular component from the curated GO Cellular Component Annotations dataset.

escrt iii complex Gene Set

From GO Cellular Component Annotations

proteins localized to the escrt iii complex cellular component from the curated GO Cellular Component Annotations dataset.

mitochondrial respiratory chain complex iii Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial respiratory chain complex iii cellular component from the curated GO Cellular Component Annotations dataset.

dna polymerase iii complex Gene Set

From GO Cellular Component Annotations

proteins localized to the dna polymerase iii complex cellular component from the curated GO Cellular Component Annotations dataset.

rna polymerase iii regulatory region dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase iii regulatory region dna binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase iii activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase iii activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase iii core binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase iii core binding molecular function from the curated GO Molecular Function Annotations dataset.

glyoxalase iii activity Gene Set

From GO Molecular Function Annotations

genes performing the glyoxalase iii activity molecular function from the curated GO Molecular Function Annotations dataset.

ribonuclease iii activity Gene Set

From GO Molecular Function Annotations

genes performing the ribonuclease iii activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase iii transcription factor binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase iii transcription factor binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase iii type 3 promoter dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase iii type 3 promoter dna binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase iii type 1 promoter dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase iii type 1 promoter dna binding molecular function from the curated GO Molecular Function Annotations dataset.

uroporphyrinogen-iii synthase activity Gene Set

From GO Molecular Function Annotations

genes performing the uroporphyrinogen-iii synthase activity molecular function from the curated GO Molecular Function Annotations dataset.

exodeoxyribonuclease iii activity Gene Set

From GO Molecular Function Annotations

genes performing the exodeoxyribonuclease iii activity molecular function from the curated GO Molecular Function Annotations dataset.

group iii metabotropic glutamate receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the group iii metabotropic glutamate receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

transforming growth factor beta receptor activity, type iii Gene Set

From GO Molecular Function Annotations

genes performing the transforming growth factor beta receptor activity, type iii molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase iii type 2 promoter dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase iii type 2 promoter dna binding molecular function from the curated GO Molecular Function Annotations dataset.

type iii transforming growth factor beta receptor binding Gene Set

From GO Molecular Function Annotations

genes performing the type iii transforming growth factor beta receptor binding molecular function from the curated GO Molecular Function Annotations dataset.

Bc-III Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the Bc-III ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

vMIP-III Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the vMIP-III ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

GnRH III Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the GnRH III ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

peptide III-BTD Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the peptide III-BTD ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

jingzhaotoxin-III Gene Set

From Guide to Pharmacology Chemical Ligands of Receptors

receptors of the jingzhaotoxin-III ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.

Hexacarboxylporphyrin III Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Hexacarboxylporphyrin III metabolite from the curated HMDB Metabolites of Enzymes dataset.

Angiotensin III Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Angiotensin III metabolite from the curated HMDB Metabolites of Enzymes dataset.

Coproporphyrinogen III Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Coproporphyrinogen III metabolite from the curated HMDB Metabolites of Enzymes dataset.

Heptacarboxylporphyrin III Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Heptacarboxylporphyrin III metabolite from the curated HMDB Metabolites of Enzymes dataset.

adenosylcob(III)yrinic acid a,c-diamide Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the adenosylcob(III)yrinic acid a,c-diamide metabolite from the curated HMDB Metabolites of Enzymes dataset.

Coproporphyrin III Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Coproporphyrin III metabolite from the curated HMDB Metabolites of Enzymes dataset.

Uroporphyrinogen III Gene Set

From HMDB Metabolites of Enzymes

interacting proteins for the Uroporphyrinogen III metabolite from the curated HMDB Metabolites of Enzymes dataset.

decreased mitochondrial complex iii activity in liver tissue Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased mitochondrial complex iii activity in liver tissue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased activity of mitochondrial complex iii Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased activity of mitochondrial complex iii phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Hyperlipoproteinemia Type III Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hyperlipoproteinemia Type III phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Glycogen Storage Disease Type III Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Glycogen Storage Disease Type III phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

methylglyoxal degradation III Gene Set

From HumanCyc Pathways

proteins participating in the methylglyoxal degradation III pathway from the HumanCyc Pathways dataset.

putrescine degradation III Gene Set

From HumanCyc Pathways

proteins participating in the putrescine degradation III pathway from the HumanCyc Pathways dataset.

lactose degradation III Gene Set

From HumanCyc Pathways

proteins participating in the lactose degradation III pathway from the HumanCyc Pathways dataset.

thiamin salvage III Gene Set

From HumanCyc Pathways

proteins participating in the thiamin salvage III pathway from the HumanCyc Pathways dataset.

adenine and adenosine salvage III Gene Set

From HumanCyc Pathways

proteins participating in the adenine and adenosine salvage III pathway from the HumanCyc Pathways dataset.

heme biosynthesis from uroporphyrinogen-III I Gene Set

From HumanCyc Pathways

proteins participating in the heme biosynthesis from uroporphyrinogen-III I pathway from the HumanCyc Pathways dataset.

cholesterol biosynthesis III (via desmosterol) Gene Set

From HumanCyc Pathways

proteins participating in the cholesterol biosynthesis III (via desmosterol) pathway from the HumanCyc Pathways dataset.

fatty acid α-oxidation III Gene Set

From HumanCyc Pathways

proteins participating in the fatty acid α-oxidation III pathway from the HumanCyc Pathways dataset.

oxidative ethanol degradation III Gene Set

From HumanCyc Pathways

proteins participating in the oxidative ethanol degradation III pathway from the HumanCyc Pathways dataset.

thiosulfate disproportionation III (rhodanese) Gene Set

From HumanCyc Pathways

proteins participating in the thiosulfate disproportionation III (rhodanese) pathway from the HumanCyc Pathways dataset.

Tetrapyrrole biosynthesis, uroporphyrinogen III synthase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tetrapyrrole biosynthesis, uroporphyrinogen III synthase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidase C2, calpain, large subunit, domain III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase C2, calpain, large subunit, domain III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tyrosine-protein kinase, receptor class III, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tyrosine-protein kinase, receptor class III, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit III domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit III domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coproporphyrinogen III oxidase, oxygen-independent related Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coproporphyrinogen III oxidase, oxygen-independent related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Endonuclease III-like, conserved site-2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endonuclease III-like, conserved site-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tissue factor/coagulation factor III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tissue factor/coagulation factor III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CoA-transferase family III domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CoA-transferase family III domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed RNA polymerase III, subunit Rpc31 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed RNA polymerase III, subunit Rpc31 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed RNA polymerase III subunit Rpc5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed RNA polymerase III subunit Rpc5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase, subunit III, 4-helical bundle Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase, subunit III, 4-helical bundle protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed RNA polymerase III subunit RPC1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed RNA polymerase III subunit RPC1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed RNA polymerase III subunit RPC4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed RNA polymerase III subunit RPC4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alcohol dehydrogenase class III/S-(hydroxymethyl)glutathione dehydrogenase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alcohol dehydrogenase class III/S-(hydroxymethyl)glutathione dehydrogenase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coproporphyrinogen III oxidase, aerobic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coproporphyrinogen III oxidase, aerobic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidase C2, calpain, domain III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase C2, calpain, domain III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cytochrome c oxidase subunit III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Leucine-rich repeat and fibronectin type-III domain-containing protein 5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leucine-rich repeat and fibronectin type-III domain-containing protein 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Elongation factor G, III-V domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Elongation factor G, III-V domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Repressor of RNA polymerase III transcription Maf1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Repressor of RNA polymerase III transcription Maf1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alpha-D-phosphohexomutase, alpha/beta/alpha domain III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alpha-D-phosphohexomutase, alpha/beta/alpha domain III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Endonuclease III, iron-sulphur binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endonuclease III, iron-sulphur binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminotransferase class-III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminotransferase class-III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Iodothyronine deiodinase I/III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Iodothyronine deiodinase I/III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

AdipoR/Haemolysin-III-related Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the AdipoR/Haemolysin-III-related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RNA polymerase III subunit RPC82-related, helix-turn-helix Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNA polymerase III subunit RPC82-related, helix-turn-helix protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ribonuclease III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribonuclease III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ribonuclease III domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribonuclease III domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Urocortin II/III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Urocortin II/III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Annexin, type III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Annexin, type III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Vitamin D binding protein, domain III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Vitamin D binding protein, domain III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

TRAPP III complex, Trs85 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the TRAPP III complex, Trs85 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RNA polymerase III, subunit Rpc25 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNA polymerase III, subunit Rpc25 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Secretogranin III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Secretogranin III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sirtuin, class III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sirtuin, class III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Coproporphyrinogen III oxidase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Coproporphyrinogen III oxidase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Fibronectin type III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Fibronectin type III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Endonuclease III-like, iron-sulphur cluster loop motif Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Endonuclease III-like, iron-sulphur cluster loop motif protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RNA polymerase III Rpc82, C -terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNA polymerase III Rpc82, C -terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Hly-III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Hly-III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

CoA-transferase family III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the CoA-transferase family III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Antifreeze, type III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Antifreeze, type III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Exonuclease, RNase T/DNA polymerase III Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Exonuclease, RNase T/DNA polymerase III protein domain from the InterPro Predicted Protein Domain Annotations dataset.

KATO III Gene Set

From Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles

genes with high or low copy number in KATO III relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.

KATO III Gene Set

From Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles

genes with high or low expression in KATO III relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset.

KATO III Gene Set

From Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles

genes mutated in the KATO III cell line from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_A549_6.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_A549_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_H1299_6.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_H1299_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_NCIH2073_6.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_NCIH2073_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_SW620_6.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_SW620_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_HCC515_24.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_HCC515_24.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_SKLU1_6.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_SKLU1_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_HA1E_6.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_HA1E_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_HA1E_24.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_HA1E_24.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_A375_24.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_A375_24.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_HCC515_6.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_HCC515_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

BRD-K23875128_Rho kinase inhibitor III [rockout]_OV7_6.0_h_10.0_um Gene Set

From LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules

genes differentially expressed following the BRD-K23875128_Rho kinase inhibitor III [rockout]_OV7_6.0_h_10.0_um small molecule perturbation from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.

abnormal cerebellum vermis lobule iii morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellum vermis lobule iii morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased susceptibility to type iii hypersensitivity reaction Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased susceptibility to type iii hypersensitivity reaction phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased susceptibility to type iii hypersensitivity reaction Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased susceptibility to type iii hypersensitivity reaction phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal type iii hypersensitivity reaction Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal type iii hypersensitivity reaction phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal type iii spiral ligament fibrocytes Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal type iii spiral ligament fibrocytes phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

type iii spiral ligament fibrocyte degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the type iii spiral ligament fibrocyte degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

dyserythropoietic anemia, congenital, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyserythropoietic anemia, congenital, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperoxaluria, primary, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperoxaluria, primary, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

mody, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the mody, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperlipoproteinemia, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperlipoproteinemia, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

gm1-gangliosidosis, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the gm1-gangliosidosis, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

angioedema, hereditary, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the angioedema, hereditary, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

amelogenesis imperfecta, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the amelogenesis imperfecta, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

[glutaric aciduria iii] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [glutaric aciduria iii] phenotype from the curated OMIM Gene-Disease Associations dataset.

keratosis palmoplantaris striata iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the keratosis palmoplantaris striata iii phenotype from the curated OMIM Gene-Disease Associations dataset.

gaucher disease, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the gaucher disease, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

oi type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the oi type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

stickler syndrome, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the stickler syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperaldosteronism, familial, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperaldosteronism, familial, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

mucolipidosis iii gamma Gene Set

From OMIM Gene-Disease Associations

genes associated with the mucolipidosis iii gamma phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune lymphoproliferative syndrome, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune lymphoproliferative syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

trichorhinophalangeal syndrome, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the trichorhinophalangeal syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

{spinal muscular atrophy, type iii, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {spinal muscular atrophy, type iii, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

dentinogenesis imperfecta, shields type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the dentinogenesis imperfecta, shields type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

osteogenesis imperfecta, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteogenesis imperfecta, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

tyrosinemia, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the tyrosinemia, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

atelosteogenesis, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the atelosteogenesis, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

congenital disorder of glycosylation, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the congenital disorder of glycosylation, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

mucolipidosis iii alpha/beta Gene Set

From OMIM Gene-Disease Associations

genes associated with the mucolipidosis iii alpha/beta phenotype from the curated OMIM Gene-Disease Associations dataset.

syndactyly, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the syndactyly, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

schindler disease, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the schindler disease, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

hypocalciuric hypercalcemia, familial, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypocalciuric hypercalcemia, familial, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

3-methylglutaconic aciduria, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the 3-methylglutaconic aciduria, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

albinism, oculocutaneous, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the albinism, oculocutaneous, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

Metabotropic glutamate receptor group III pathway Gene Set

From PANTHER Pathways

proteins participating in the Metabotropic glutamate receptor group III pathway pathway from the PANTHER Pathways dataset.

iii Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term iii in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

nitric-oxide-synthase-type-iii Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term nitric-oxide-synthase-type-iii in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Signaling events mediated by HDAC Class III Gene Set

From PID Pathways

proteins participating in the Signaling events mediated by HDAC Class III pathway from the PID Pathways dataset.

RNA Polymerase III Transcription Initiation From Type 3 Promoter Gene Set

From Reactome Pathways

proteins participating in the RNA Polymerase III Transcription Initiation From Type 3 Promoter pathway from the Reactome Pathways dataset.

RNA Polymerase III Transcription Gene Set

From Reactome Pathways

proteins participating in the RNA Polymerase III Transcription pathway from the Reactome Pathways dataset.

RNA Polymerase III Chain Elongation Gene Set

From Reactome Pathways

proteins participating in the RNA Polymerase III Chain Elongation pathway from the Reactome Pathways dataset.

RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription Gene Set

From Reactome Pathways

proteins participating in the RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription pathway from the Reactome Pathways dataset.

RNA Polymerase III Transcription Termination Gene Set

From Reactome Pathways

proteins participating in the RNA Polymerase III Transcription Termination pathway from the Reactome Pathways dataset.

RNA Polymerase III Transcription Initiation From Type 1 Promoter Gene Set

From Reactome Pathways

proteins participating in the RNA Polymerase III Transcription Initiation From Type 1 Promoter pathway from the Reactome Pathways dataset.

RNA Polymerase III Abortive And Retractive Initiation Gene Set

From Reactome Pathways

proteins participating in the RNA Polymerase III Abortive And Retractive Initiation pathway from the Reactome Pathways dataset.

RNA Polymerase III Transcription Initiation Gene Set

From Reactome Pathways

proteins participating in the RNA Polymerase III Transcription Initiation pathway from the Reactome Pathways dataset.

RNA Polymerase III Transcription Initiation From Type 2 Promoter Gene Set

From Reactome Pathways

proteins participating in the RNA Polymerase III Transcription Initiation From Type 2 Promoter pathway from the Reactome Pathways dataset.

kato-iii cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

Type III interferon signaling(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Type III interferon signaling(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bifunctional peroxisomal enzyme deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked ichthyosis with steryl-sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosylceramide beta-galactosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated 17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Endplate acetylcholinesterase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sepiapterin reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbonic anhydrase va deficiency, hyperammonemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ribose-5-phosphate isomerase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kininogen deficiency, total Gene Set

From ClinVar Gene-Phenotype Associations

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

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-terminal acetyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Creatine deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SCID due to ADA deficiency, delayed onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Properdin deficiency, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PROPERDIN DEFICIENCY, TYPE II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor d deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methylmalonyl-CoA epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 8 deficiency type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Testosterone 17-beta-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acyl-CoA dehydrogenase family, member 9, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of isobutyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral folate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoserine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoserine aminotransferase deficiency 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.

Carnitine acylcarnitine translocase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinyl-CoA acetoacetate transferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

HNSHA due to aldolase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet-activating factor acetylhydrolase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lipase deficiency combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

5-Oxoprolinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucocorticoid deficiency with achalasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proopiomelanocortin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Pituitary hormone deficiency, combined Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrinsic factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

21-hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutaryl-CoA oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thiopurine methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lactate dehydrogenase b deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen deficiency, type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Molybdenum cofactor deficiency, complementation group A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Biotinidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Autosomal dominant isolated somatotropin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypohidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of phosphoserine phosphatase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isolated growth hormone deficiency type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyryl-CoA dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anhidrotic ectodermal dysplasia with immune deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hyaluronoglucosaminidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sulfite oxidase deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Plasminogen activator inhibitor type 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Combined oxidative phosphorylation deficiency 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monoamine oxidase A deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor V deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenine phosphoribosyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamate formiminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Follicle-stimulating hormone deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ganglioside sialidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C1q deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interferon gamma receptor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Platelet glycoprotein IV deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

N-acetylaspartate deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Triosephosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gaucher disease, atypical, due to saposin C deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aromatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hereditary factor II deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, a subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia due to hexokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple sulfatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosteroid-binding globulin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined oxidative phosphorylation deficiency 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corticosterone methyloxidase type 2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 9 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

2,4-Dienoyl-CoA reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of glycerate kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of galactokinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ACTH deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Carboxylesterase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Purine-nucleoside phosphorylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neonatal intrahepatic cholestasis caused by citrin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inosine triphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth hormone deficiency with pituitary anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

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.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocysteinemia due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of pyrroline-5-carboxylate reductase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency due to ficolin 3 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sarcosine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branched-chain ketoacid dehydrogenase kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

L-ferritin deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Hepatic lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Factor X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E3-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor IX deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha-fetoprotein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermethioninemia due to adenosine kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of iodide peroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital lactase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Caspase-8 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoglycerate kinase 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anaphylotoxin inactivator deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cytochrome-c oxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enterokinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Coenzyme Q10 deficiency, primary, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coenzyme Q10 deficiency, primary, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythrocyte amp deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor VII deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Apolipoprotein a-i deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-aminobutyric acid transaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Myeloperoxidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial phosphate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor XI deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Porphobilinogen synthase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Very long chain acyl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IRAK4 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukocyte adhesion deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscular dystrophy, congenital, due to ITGA7 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cortisone reductase deficiency 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arginine:glycine amidinotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate kinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Methionine adenosyltransferase deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Muscle AMP deaminase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropyrimidinase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dimethylglycine dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of hydroxymethylglutaryl-CoA lyase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-alpha deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Isovaleryl-CoA dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd59 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine aminotransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sphingolipid activator protein 1 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of ferroxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of steroid 11-beta-monooxygenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lysosomal acid lipase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Dopamine beta hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UDPglucose-4-epimerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homocystinuria due to MTHFR deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of alpha-mannosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-like growth factor I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate carboxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fumarase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of transaldolase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial pyruvate carrier deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase E1-beta deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MASP2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Argininosuccinate lyase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prekallikrein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Chitotriosidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anti-plasmin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Prothrombin deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

Mitochondrial trifunctional protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GTP cyclohydrolase I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of malonyl-CoA decarboxylase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3 beta-Hydroxysteroid dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Succinate-semialdehyde dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked agammaglobulinemia with growth hormone deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Okt4 epitope deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of acetyl-CoA acetyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial complex II deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mineralocorticoid deficiency, isolated Gene Set

From ClinVar Gene-Phenotype Associations

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

Complement 1s deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dihydropteridine reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mannose-binding protein deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glucose transporter type 1 deficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Myd88 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cd8 deficiency, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy due to partial LAMA2 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Acid-labile subunit deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Fructose-biphosphatase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia due to dihydrofolate reductase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Complement factor B deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Complement factor B deficiency 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.

Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary factor VIII deficiency disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proline dehydrogenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor H deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glutamine deficiency, congenital Gene Set

From ClinVar Gene-Phenotype Associations

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

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

From ClinVar Gene-Phenotype Associations

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

Glycine N-methyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ornithine carbamoyltransferase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sucrase-isomaltase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cholesterol monooxygenase (side-chain cleaving) deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fucosyltransferase 6 deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenylate kinase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pituitary hormone deficiency, combined, 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of butyrylcholine esterase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Protein S deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of glycerol kinase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of xanthine oxidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urocanate hydratase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

4-Hydroxyphenylpyruvate dioxygenase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor xiii, b subunit, deficiency of Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Prolidase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

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

Deficiency of beta-ureidopropionase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deficiency of guanidinoacetate methyltransferase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MYD88 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset.

Anemia, Iron-Deficiency Gene Set

From CTD Gene-Disease Associations

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

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

Platelet Glycoprotein IV Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset.

Mitochondrial Phosphate Carrier Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset.

Prekallikrein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylenetetrahydrofolate reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset.

6-pyruvoyl-tetrahydropterin synthase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset.

Factor XI Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine palmitoyl transferase 1A deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Carbamoyl-Phosphate Synthase I Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Tyrosine Kinase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Properdin deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Aniridia cerebellar ataxia mental deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Proopiomelanocortin Deficiency Gene Set

From CTD Gene-Disease Associations

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

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glucocorticoid Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Intrinsic Factor Deficiency Gene Set

From CTD Gene-Disease Associations

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

Adenosine monophosphate deaminase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset.

alpha 1-Antitrypsin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Deficiency, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset.

IgA Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lipase deficiency combined Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

Congenital thrombotic disease, due to Protein C deficiency Gene Set

From CTD Gene-Disease Associations

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

Enterokinase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset.

Lactase Deficiency, Congenital Gene Set

From CTD Gene-Disease Associations

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

Lecithin Acyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Interleukin 2 Receptor, Alpha, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset.

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset.

Beta ketothiolase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset.

Transaldolase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Anti-plasmin deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset.

CD8 Deficiency, Familial Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset.

Neuraminidase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Folic Acid Deficiency Gene Set

From CTD Gene-Disease Associations

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

Lysosomal acid lipase deficiency Gene Set

From CTD Gene-Disease Associations

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

Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset.

Vitamin B 12 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset.

Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset.

Familial HDL deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset.

Carnitine-Acylcarnitine Translocase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Methylcobalamin Deficiency, CblG Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset.

Flaujeac factor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset.

Ribose 5-Phosphate Isomerase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate dehydrogenase phosphatase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset.

VLCAD deficiency Gene Set

From CTD Gene-Disease Associations

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

18-Hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset.

Creatine deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

dopamine beta hydroxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset.

Growth mental deficiency syndrome of Myhre Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Ornithine Carbamoyltransferase Deficiency Disease Gene Set

From CTD Gene-Disease Associations

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

Protein Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor 8 deficiency, acquired Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset.

3-methylcrotonyl CoA carboxylase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset.

Adenylosuccinate lyase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset.

Thiopurine S methyltranferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset.

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

From CTD Gene-Disease Associations

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

3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Isolated Growth Hormone Deficiency, Type IB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset.

Vitamin A Deficiency Gene Set

From CTD Gene-Disease Associations

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

Molybdenum cofactor deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Kinase 1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset.

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 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.

Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset.

Plasminogen Activator Inhibitor-1 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E2 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoglycerate Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin D Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor V Deficiency Gene Set

From CTD Gene-Disease Associations

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

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase Complex Deficiency Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset.

Ataxia with vitamin E deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset.

Aromatic amino acid decarboxylase deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor X Deficiency Gene Set

From CTD Gene-Disease Associations

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

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset.

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

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

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset.

Dimethylglycine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset.

Pituitary Hormone Deficiency, Combined, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset.

Trehalase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Guanidinoacetate methyltransferase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset.

Aminoacylase 1 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset.

Phosphoenolpyruvate carboxykinase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset.

17-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 17-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Heparin Cofactor II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heparin Cofactor II Deficiency from the curated CTD Gene-Disease Associations dataset.

Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency from the curated CTD Gene-Disease Associations dataset.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease D-BIFUNCTIONAL PROTEIN DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 from the curated CTD Gene-Disease Associations dataset.

Arginine:Glycine Amidinotransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Arginine:Glycine Amidinotransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Biotinidase Deficiency Gene Set

From CTD Gene-Disease Associations

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

COMPLEMENT COMPONENT C1r/C1s DEFICIENCY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease COMPLEMENT COMPONENT C1r/C1s DEFICIENCY from the curated CTD Gene-Disease Associations dataset.

Methionine Adenosyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Phosphoenolpyruvate carboxykinase 2 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase 2 deficiency from the curated CTD Gene-Disease Associations dataset.

Glycine N-Methyltransferase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glycine N-Methyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset.

Krabbe Disease, Atypical, due to Saposin A Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Krabbe Disease, Atypical, due to Saposin A Deficiency from the curated CTD Gene-Disease Associations dataset.

Magnesium Deficiency Gene Set

From CTD Gene-Disease Associations

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

2-Methylbutyryl-CoA Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 2-Methylbutyryl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Glycosylphosphatidylinositol deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor Xiii, A Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency from the curated CTD Gene-Disease Associations dataset.

Leukocyte adhesion deficiency type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukocyte adhesion deficiency type 1 from the curated CTD Gene-Disease Associations dataset.

Isobutyryl-CoA dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Isobutyryl-CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Dihydropyrimidine Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Corticosteroid-Binding Globulin Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corticosteroid-Binding Globulin Deficiency from the curated CTD Gene-Disease Associations dataset.

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency from the curated CTD Gene-Disease Associations dataset.

ACTH Deficiency, Isolated Gene Set

From CTD Gene-Disease Associations

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

Factor XIII, B Subunit, Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Gaucher Disease, Atypical, Due To Saposin C Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gaucher Disease, Atypical, Due To Saposin C Deficiency from the curated CTD Gene-Disease Associations dataset.

GLUT1 DEFICIENCY SYNDROME 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLUT1 DEFICIENCY SYNDROME 2 from the curated CTD Gene-Disease Associations dataset.

Iron-Refractory Iron Deficiency Anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iron-Refractory Iron Deficiency Anemia from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Specific Granule Deficiency Gene Set

From CTD Gene-Disease Associations

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

Insulin-Like Growth Factor I Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Insulin-Like Growth Factor I Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement component 5 deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement component 5 deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 7 Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 7 Deficiency from the curated CTD Gene-Disease Associations dataset.

Lactate dehydrogenase deficiency type A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lactate dehydrogenase deficiency type A from the curated CTD Gene-Disease Associations dataset.

Pyruvate Dehydrogenase E3-Binding Protein Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyruvate Dehydrogenase E3-Binding Protein Deficiency from the curated CTD Gene-Disease Associations dataset.

Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked from the curated CTD Gene-Disease Associations dataset.

Cortisone reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cortisone reductase deficiency from the curated CTD Gene-Disease Associations dataset.

Peroxisomal ACYL-COA oxidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peroxisomal ACYL-COA oxidase deficiency from the curated CTD Gene-Disease Associations dataset.

NADH cytochrome B5 reductase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset.

3b-Hydroxysteroid Dehydrogenase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 3b-Hydroxysteroid Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset.

Thiamine Deficiency Gene Set

From CTD Gene-Disease Associations

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

Mitochondrial Complex II Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mitochondrial Complex II Deficiency from the curated CTD Gene-Disease Associations dataset.

Sucrase-isomaltase deficiency, congenital Gene Set

From CTD Gene-Disease Associations

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

Systemic carnitine deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Systemic carnitine deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-cystathionase deficiency Gene Set

From CTD Gene-Disease Associations

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

Pituitary Hormone Deficiency, Combined, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 4 from the curated CTD Gene-Disease Associations dataset.

Combined Saposin Deficiency Gene Set

From CTD Gene-Disease Associations

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

Radial Ray Deficiency, X-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radial Ray Deficiency, X-Linked from the curated CTD Gene-Disease Associations dataset.

Beta-Ureidopropionase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Combined Oxidative Phosphorylation Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 5 from the curated CTD Gene-Disease Associations dataset.

Combined Oxidative Phosphorylation Deficiency 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 4 from the curated CTD Gene-Disease Associations dataset.

Protein C Deficiency Gene Set

From CTD Gene-Disease Associations

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

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

succinic semialdehyde dehydrogenase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease succinic semialdehyde dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Carboxypeptidase N Deficiency Gene Set

From CTD Gene-Disease Associations

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

Purine Nucleoside Phosphorylase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Purine Nucleoside Phosphorylase Deficiency from the curated CTD Gene-Disease Associations dataset.

Complement Component 4, Partial Deficiency Of Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Complement Component 4, Partial Deficiency Of from the curated CTD Gene-Disease Associations dataset.

Familial Glucocorticoid Deficiency 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Familial Glucocorticoid Deficiency 1 from the curated CTD Gene-Disease Associations dataset.

Endplate Acetylcholinesterase Deficiency Gene Set

From CTD Gene-Disease Associations

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

Factor XIII Deficiency Gene Set

From CTD Gene-Disease Associations

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

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Fructose-1,6-Diphosphatase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins ass