| Name |
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SHOX2 Geneshort stature homeobox 2 This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009] |
KIR2DS5 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR2DS2 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014] |
SCOCP1 Geneshort coiled-coil protein pseudogene 1 |
SHOX Geneshort stature homeobox This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] |
LOC100132571 Geneshort coiled-coil protein pseudogene |
KIR2DS4 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR2DS3 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
KIR2DS1 Genekiller cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008] |
OPN1SW Geneopsin 1 (cone pigments), short-wave-sensitive This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008] |
KIR3DS1 Genekiller cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several `framework` genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] |
SEMA5B Genesema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
SEMA5A Genesema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010] |
SCOC Geneshort coiled-coil protein This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009] |
HSCR7 GeneHirschsprung disease, short-segment, 3 |
HSCR6 GeneHirschsprung disease, short-segment, 2 |
MRSS GeneMental retardation, X-linked, with short stature |
SEMA3A Genesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008] |
SEMA3C Genesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017] |
SEMA3B Genesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014] |
SEMA3E Genesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] |
SEMA3D Genesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016] |
SEMA3G Genesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016] |
SEMA3F Genesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] |
LOC100422730 Genesema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A pseudogene |
SEMA4A Genesema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] |
SEMA4B Genesema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Predicted to be involved in several processes, including axon guidance; neural crest cell migration; and semaphorin-plexin signaling pathway. Predicted to be located in membrane and synapse. Predicted to be active in glutamatergic synapse and postsynaptic density membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SEMA4C Genesema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Involved in muscle cell differentiation and positive regulation of stress-activated MAPK cascade. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025] |
SEMA4D Genesema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D Enables identical protein binding activity; semaphorin receptor binding activity; and transmembrane signaling receptor activity. Involved in several processes, including ossification involved in bone maturation; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and regulation of neuron projection development. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SEMA4F Genesema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] |
SEMA4G Genesema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] |
STMP1 Geneshort transmembrane mitochondrial protein 1 Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC124901069 Geneshort transmembrane mitochondrial protein 1-like |
COL14A1 Genecollagen, type XIV, alpha 1 This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013] |
COL27A1 Genecollagen, type XXVII, alpha 1 This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014] |
COL9A2 Genecollagen, type IX, alpha 2 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008] |
COL9A3 Genecollagen, type IX, alpha 3 This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010] |
COL9A1 Genecollagen, type IX, alpha 1 This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
LOC100420255 Genecollagen, type XXII, alpha 1 pseudogene |
COL1AR Genecollagen, type I, alpha, receptor |
COL1A2 Genecollagen, type I, alpha 2 This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] |
COL6A1 Genecollagen, type VI, alpha 1 The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008] |
COL6A2 Genecollagen, type VI, alpha 2 This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008] |
COL6A5 Genecollagen, type VI, alpha 5 This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] |
COL17A1 Genecollagen, type XVII, alpha 1 This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008] |
LOC645544 Genecuticle collagen 7-like |
COL21A1 Genecollagen, type XXI, alpha 1 This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
COL18A1 Genecollagen, type XVIII, alpha 1 This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
COL28A1 Genecollagen, type XXVIII, alpha 1 COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010] |
COL11A1 Genecollagen, type XI, alpha 1 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] |
COL11A2 Genecollagen, type XI, alpha 2 This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009] |
FCN3 Geneficolin (collagen/fibrinogen domain containing) 3 Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008] |
FCN2 Geneficolin (collagen/fibrinogen domain containing lectin) 2 The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
FCN1 Geneficolin (collagen/fibrinogen domain containing) 1 The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008] |
COL22A1 Genecollagen, type XXII, alpha 1 This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It belongs to the fibril-associated collagens with interrupted triple helix (FACIT) subset of the collagen superfamily, which associate with collagen fibers through their C-terminal collagenous domains and mediate protein-protein interactions through their N-terminal noncollagenous domains. The encoded protein is deposited in the basement membrane zone of the myotendinous junction which is present only at the tissue junctions of muscles, tendons, the heart, articular cartilage, and skin. A knockdown of the orthologous zebrafish gene induces a muscular dystrophy by disruption of the myotendinous junction. [provided by RefSeq, May 2017] |
COL5A2 Genecollagen, type V, alpha 2 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008] |
COL5A3 Genecollagen, type V, alpha 3 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008] |
COL5A1 Genecollagen, type V, alpha 1 This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] |
COL12A1 Genecollagen, type XII, alpha 1 This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
COL6A4P1 Genecollagen, type VI, alpha 4 pseudogene 1 This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009] |
COL6A4P2 Genecollagen, type VI, alpha 4 pseudogene 2 This transcribed pseudogene represents the 3' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). The predicted ORF contains multiple premature stop codons. A large chromosome break separates this pseudogene from the 5' end of the presumed ortholog (DVWA, GeneID 344875) which is located upstream at chromosome 3p24.3. [provided by RefSeq, Jun 2009] |
COL25A1 Genecollagen, type XXV, alpha 1 This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
COL2A1 Genecollagen, type II, alpha 1 This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008] |
COLQ Genecollagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
COL15A1 Genecollagen, type XV, alpha 1 This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013] |
COL26A1 Genecollagen, type XXVI, alpha 1 This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013] |
COL8A2 Genecollagen, type VIII, alpha 2 This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
COL8A1 Genecollagen, type VIII, alpha 1 This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011] |
COL16A1 Genecollagen, type XVI, alpha 1 This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008] |
CCBE1 Genecollagen and calcium binding EGF domains 1 This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010] |
COLGALT2 Genecollagen beta(1-O)galactosyltransferase 2 Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Mar 2025] |
COLGALT1 Genecollagen beta(1-O)galactosyltransferase 1 The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015] |
ADIPOQ Geneadiponectin, C1Q and collagen domain containing This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010] |
CTHRC1 Genecollagen triple helix repeat containing 1 This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] |
COL20A1 Genecollagen, type XX, alpha 1 Predicted to be located in endoplasmic reticulum lumen and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025] |
SERPINH1 Geneserpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011] |
COL7A1 Genecollagen, type VII, alpha 1 This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008] |
COL4A6 Genecollagen, type IV, alpha 6 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013] |
COL4A5 Genecollagen, type IV, alpha 5 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010] |
COL4A4 Genecollagen, type IV, alpha 4 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008] |
COL4A3 Genecollagen, type IV, alpha 3 (Goodpasture antigen) Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010] |
COL4A2 Genecollagen, type IV, alpha 2 This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008] |
COL4A1 Genecollagen, type IV, alpha 1 This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
COL19A1 Genecollagen, type XIX, alpha 1 This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008] |
COL10A1 Genecollagen, type X, alpha 1 This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain collagen, type X collagen is a homotrimer. Mutations in this gene are associated with Schmid type metaphyseal chondrodysplasia (SMCD) and Japanese type spondylometaphyseal dysplasia (SMD). [provided by RefSeq, Jul 2008] |
COL11A2P1 Genecollagen, type XI, alpha 2 pseudogene 1 |
COL1A1 Genecollagen, type I, alpha 1 This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] |
COL6A3 Genecollagen, type VI, alpha 3 This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009] |
COL6A6 Genecollagen, type VI, alpha 6 This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017] |
COL4A3BP Genecollagen, type IV, alpha 3 (Goodpasture antigen) binding protein This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
COL23A1 Genecollagen, type XXIII, alpha 1 COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008] |
COL13A1 Genecollagen, type XIII, alpha 1 This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008] |
COL3A1 Genecollagen, 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 type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008] |
COL24A1 Genecollagen, type XXIV, alpha 1 This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017] |
short-chain collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the short-chain collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
short-chain collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the short-chain collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
short-chain collagen trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the short-chain collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
short-chain collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the short-chain collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
short-chain collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the short-chain collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
transmembrane collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the transmembrane collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type iv trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type iv trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
fibrillar collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the fibrillar collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type xvi trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type xvi trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type viii trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type viii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type xiii trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type xiii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
basement membrane collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the basement membrane collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
sheet-forming collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the sheet-forming collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
network-forming collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the network-forming collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type xi trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type xi trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type v trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type v trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type iii trimer Gene SetFrom 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. |
collagen type ii trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type ii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type ix trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type ix trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type vii trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type vii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type vi trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type vi trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
facit collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the facit collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type xv trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type xv trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type xii trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type xii trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type xiv trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type xiv trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
collagen type i trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the collagen type i trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
transmembrane collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the transmembrane collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type iv trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type iv trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type xviii trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type xviii trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
network-forming collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the network-forming collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
fibrillar collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the fibrillar collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type xvi trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type xvi trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type viii trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type viii trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type x trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type x trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type xvii trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type xvii trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
basement membrane collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the basement membrane collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
sheet-forming collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the sheet-forming collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type xi trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type xi trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type v trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type v trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type iii trimer Gene SetFrom 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. |
collagen type ii trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type ii trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type xii trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type xii trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type ix trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type ix trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type vii trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type vii trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type vi trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type vi trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type xiii trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type xiii trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
facit collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the facit collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type xv trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type xv trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type xiv trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type xiv trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen type i trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen type i trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
transmembrane collagen trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the transmembrane collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type iv trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type iv trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type viii trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type viii trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
network-forming collagen trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the network-forming collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
fibrillar collagen trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the fibrillar collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type xvi trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type xvi trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type xiii trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type xiii trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
basement membrane collagen trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the basement membrane collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
sheet-forming collagen trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the sheet-forming collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type xi trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type xi trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type v trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type v trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type iii trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type iii trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type ii trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type ii trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type xv trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type xv trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type xii trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type xii trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type ix trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type ix trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type vii trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type vii trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type vi trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type vi trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
facit collagen trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the facit collagen trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type xiv trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type xiv trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type i trimer Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the collagen type i trimer cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen type I trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type I trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type XI trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type XI trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type II trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type II trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type III trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type III trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type IV trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type IV trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type V trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type V trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type IX trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type IX trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type VIII trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type VIII trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type XV trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type XV trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type VII trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type VII trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type X trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type X trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type XIV trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type XIV trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type XVI trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type XVI trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type XIII trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type XIII trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type XII trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type XII trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
sheet-forming collagen trimer Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the sheet-forming collagen trimer cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type I trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type I trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type II trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type II trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type XI trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type XI trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type III trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type III trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type IV trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type IV trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type V trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type V trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type IX trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type IX trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type VIII trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type VIII trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type X trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type X trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type XIV trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type XIV trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type XVI trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type XVI trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type XIII trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type XIII trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen type XII trimer Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen type XII trimer cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
Collagen type VI trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type VI trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type XIII trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type XIII trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Transmembrane collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Transmembrane collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type I trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type I trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Fibrillar collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Fibrillar collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type XI trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type XI trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Basement membrane collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Basement membrane collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type XV trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type XV trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type V trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type V trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
FACIT collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the FACIT collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type XIV trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type XIV trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type IV trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type IV trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
network-forming collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the network-forming collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type III trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type III trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type XII trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type XII trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type XXVI trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type XXVI trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type IX trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type IX trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type VII trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type VII trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
sheet-forming collagen trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the sheet-forming collagen trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type VIII trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type VIII trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type II trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type II trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type XVI trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type XVI trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type X trimer Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type X trimer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Transmembrane collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Transmembrane collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Fibrillar collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Fibrillar collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type XI trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen type XI trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
network-forming collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the network-forming collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type IV trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen type IV trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Basement membrane collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Basement membrane collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type VI trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen type VI trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type V trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen type V trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type I trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen type I trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
sheet-forming collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the sheet-forming collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type IX trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen type IX trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type II trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen type II trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type III trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 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 2025 dataset. |
FACIT collagen trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the FACIT collagen trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type XIII trimer Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen type XIII trimer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
childhood-onset short-trunk short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the childhood-onset short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal short-trunk short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
disproportionate short-trunk short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the disproportionate short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
disproportionate short-limb short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the disproportionate short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
lethal short-limbed short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the lethal short-limbed short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
childhood onset short-limb short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the childhood onset short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
neonatal short-limb short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the neonatal short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Lethal Short-Limbed Short Stature Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lethal Short-Limbed Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Childhood-Onset Short-Trunk Short Stature Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Childhood-Onset Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disproportionate Short-Limb Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Disproportionate Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Disproportionate Short-Trunk Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Disproportionate Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Short-Limb Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Neonatal Short-Trunk Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Neonatal Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Childhood Onset Short-Limb Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Childhood Onset Short-Limb Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Infancy Onset Short-Trunk Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Infancy Onset Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
TCL1(trimer)-AKT2 complex Gene Setproteins in the TCL1(trimer)-AKT2 complex protein complex from the CORUM Protein Complexes dataset. |
TCL1(trimer)-AKT1 complex Gene Setproteins in the TCL1(trimer)-AKT1 complex protein complex from the CORUM Protein Complexes dataset. |
trimer Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term trimer in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
Transport of HA trimer, NA tetramer and M2 tetramer from the endoplasmic reticulum to the Golgi Apparatus Gene Setproteins participating in the Transport of HA trimer, NA tetramer and M2 tetramer from the endoplasmic reticulum to the Golgi Apparatus pathway from the Reactome Pathways 2024 dataset. |
erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene SetFrom Biocarta Pathways proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset. |
anchoring collagen complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the anchoring collagen complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. |
cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
anchoring collagen complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the anchoring collagen complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen and cuticulin-based cuticle extracellular matrix part Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. |
collagen disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease collagen disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
collagen disease Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease collagen disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
collagen disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease collagen disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
collagen Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term collagen in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
collagen-activated tyrosine kinase receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the collagen-activated tyrosine kinase receptor signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of collagen binding Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of collagen binding biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of collagen metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of collagen metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
collagen catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the collagen catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
collagen metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the collagen metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of collagen catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of collagen catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of collagen metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of collagen metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of collagen metabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of collagen metabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of collagen binding Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of collagen binding biological process from the curated GO Biological Process Annotations 2015 dataset. |
positive regulation of collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the positive regulation of collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of collagen binding Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of collagen binding biological process from the curated GO Biological Process Annotations 2015 dataset. |
regulation of collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
negative regulation of collagen catabolic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the negative regulation of collagen catabolic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
collagen-activated signaling pathway Gene SetFrom GO Biological Process Annotations 2015 genes participating in the collagen-activated signaling pathway biological process from the curated GO Biological Process Annotations 2015 dataset. |
collagen fibril organization Gene SetFrom GO Biological Process Annotations 2015 genes participating in the collagen fibril organization biological process from the curated GO Biological Process Annotations 2015 dataset. |
collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2015 genes participating in the collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2015 dataset. |
anchoring collagen complex Gene SetFrom GO Cellular Component Annotations 2015 proteins localized to the anchoring collagen complex cellular component from the curated GO Cellular Component Annotations 2015 dataset. |
collagen receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the collagen receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
collagen binding involved in cell-matrix adhesion Gene SetFrom GO Molecular Function Annotations 2015 genes performing the collagen binding involved in cell-matrix adhesion molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
collagen binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the collagen binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
collagen v binding Gene SetFrom GO Molecular Function Annotations 2015 genes performing the collagen v binding molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
protein tyrosine kinase collagen receptor activity Gene SetFrom GO Molecular Function Annotations 2015 genes performing the protein tyrosine kinase collagen receptor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset. |
collagen disease Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease collagen disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
impaired collagen-induced platelet aggregation Gene SetFrom HPO Gene-Disease Associations genes associated with the impaired collagen-induced platelet aggregation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
type 1 collagen overmodification Gene SetFrom HPO Gene-Disease Associations genes associated with the type 1 collagen overmodification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal bone collagen fibril morphology Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal bone collagen fibril morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
abnormal cartilage collagen Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormal cartilage collagen phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Fibrillar collagen, C-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fibrillar collagen, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fibronectin, type II, collagen-binding Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fibronectin, type II, collagen-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Collagen triple helix repeat Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Collagen triple helix repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Collagen IV, non-collagenous Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Collagen IV, non-collagenous protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Domain of unknown function DUF959, collagen XVIII, N-terminal Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Domain of unknown function DUF959, collagen XVIII, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
increased collagen deposition in the muscles Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the increased collagen deposition in the muscles phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal pulmonary collagen fibril morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal pulmonary collagen fibril morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal tendon collagen fibril morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal tendon collagen fibril morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal collagen level Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal collagen level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
decreased collagen level Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the decreased collagen level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal aorta collagen fibril morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal aorta collagen fibril morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal bone collagen fibril morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal bone collagen fibril morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal dermis reticular layer collagen network Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal dermis reticular layer collagen network phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal cutaneous collagen fibril morphology Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal cutaneous collagen fibril morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
collagen Gene SetFrom Phosphosite Textmining Biological Term Annotations proteins co-occuring with the biological term collagen in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. |
Platelet Adhesion to exposed collagen Gene Setproteins participating in the Platelet Adhesion to exposed collagen pathway from the Reactome Pathways dataset. |
Crosslinking of collagen fibrils Gene Setproteins participating in the Crosslinking of collagen fibrils pathway from the Reactome Pathways dataset. |
Assembly of collagen fibrils and other multimeric structures Gene Setproteins participating in the Assembly of collagen fibrils and other multimeric structures pathway from the Reactome Pathways dataset. |
Collagen formation Gene Setproteins participating in the Collagen formation pathway from the Reactome Pathways dataset. |
Collagen degradation Gene Setproteins participating in the Collagen degradation pathway from the Reactome Pathways dataset. |
Collagen biosynthesis and modifying enzymes Gene Setproteins participating in the Collagen biosynthesis and modifying enzymes pathway from the Reactome Pathways dataset. |
Collagen Nevus Of Skin Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Collagen Nevus Of Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Collagen-Vascular Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Collagen-Vascular Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormal Cartilage Collagen Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormal Cartilage Collagen in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Abnormal Type Ii Collagen Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Abnormal Type Ii Collagen in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Low Grade Fibromyxoid Sarcoma With Giant Collagen Rosettes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Low Grade Fibromyxoid Sarcoma With Giant Collagen Rosettes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Disseminated Eosinophilic Collagen Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Disseminated Eosinophilic Collagen Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Impaired Collagen-Induced Platelet Aggregation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Impaired Collagen-Induced Platelet Aggregation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Reduced Muscle Collagen Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Reduced Muscle Collagen in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Collagen Overmodification Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Collagen Overmodification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
collagen fibril organization Gene SetFrom GO Biological Process Annotations 2023 genes participating in the collagen fibril organization biological process from the curated GO Biological Process Annotations 2023 dataset. |
collagen-activated signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the collagen-activated signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of collagen fibril organization Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of collagen fibril organization biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of collagen fibril organization Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of collagen fibril organization biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of collagen catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of collagen catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of collagen catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of collagen catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of collagen metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of collagen metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
collagen-activated tyrosine kinase receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2023 genes participating in the collagen-activated tyrosine kinase receptor signaling pathway biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of collagen fibril organization Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of collagen fibril organization biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of collagen binding Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of collagen binding biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of collagen catabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of collagen catabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
positive regulation of collagen metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the positive regulation of collagen metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of collagen metabolic process Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of collagen metabolic process biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of collagen binding Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of collagen binding biological process from the curated GO Biological Process Annotations 2023 dataset. |
collagen-containing extracellular matrix Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen-containing extracellular matrix cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen type VII anchoring fibril Gene SetFrom GO Cellular Component Annotations 2023 proteins localized to the collagen type VII anchoring fibril cellular component from the curated GO Cellular Component Annotations 2023 dataset. |
collagen binding involved in cell-matrix adhesion Gene SetFrom GO Molecular Function Annotations 2023 genes performing the collagen binding involved in cell-matrix adhesion molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
collagen V binding Gene SetFrom GO Molecular Function Annotations 2023 genes performing the collagen V binding molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
collagen receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the collagen receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
protein tyrosine kinase collagen receptor activity Gene SetFrom GO Molecular Function Annotations 2023 genes performing the protein tyrosine kinase collagen receptor activity molecular function from the curated GO Molecular Function Annotations 2023 dataset. |
abnormal cutaneous collagen fibril morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal cutaneous collagen fibril morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased collagen deposition in the muscles Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased collagen deposition in the muscles phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal tendon collagen fibril morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal tendon collagen fibril morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased circulating type I collagen C-terminal telopeptide level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased circulating type I collagen C-terminal telopeptide level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased circulating type I collagen C-terminal telopeptide level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased circulating type I collagen C-terminal telopeptide level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal bone collagen fibril morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal bone collagen fibril morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal dermis reticular layer collagen network Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal dermis reticular layer collagen network phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
decreased collagen level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the decreased collagen level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal corneal stroma collagen fibril morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal corneal stroma collagen fibril morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal pulmonary collagen fibril morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal pulmonary collagen fibril morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal aorta collagen fibril morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal aorta collagen fibril morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
increased collagen level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the increased collagen level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal collagen level Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal collagen level phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Type I collagen synthesis in the context of osteogenesis imperfecta Gene SetFrom WikiPathways Pathways 2024 proteins participating in the Type I collagen synthesis in the context of osteogenesis imperfecta pathway from the WikiPathways Pathways 2024 dataset. |
Assembly of collagen fibrils and other multimeric structures Gene Setproteins participating in the Assembly of collagen fibrils and other multimeric structures pathway from the Reactome Pathways 2024 dataset. |
Collagen biosynthesis and modifying enzymes Gene Setproteins participating in the Collagen biosynthesis and modifying enzymes pathway from the Reactome Pathways 2024 dataset. |
Collagen degradation Gene Setproteins participating in the Collagen degradation pathway from the Reactome Pathways 2024 dataset. |
Collagen formation Gene Setproteins participating in the Collagen formation pathway from the Reactome Pathways 2024 dataset. |
Crosslinking of collagen fibrils Gene Setproteins participating in the Crosslinking of collagen fibrils pathway from the Reactome Pathways 2024 dataset. |
Defective VWF binding to collagen type I Gene Setproteins participating in the Defective VWF binding to collagen type I pathway from the Reactome Pathways 2024 dataset. |
Defects of platelet adhesion to exposed collagen Gene Setproteins participating in the Defects of platelet adhesion to exposed collagen pathway from the Reactome Pathways 2024 dataset. |
Enhanced binding of GP1BA variant to VWF multimer:collagen Gene Setproteins participating in the Enhanced binding of GP1BA variant to VWF multimer:collagen pathway from the Reactome Pathways 2024 dataset. |
Platelet Adhesion to exposed collagen Gene Setproteins participating in the Platelet Adhesion to exposed collagen pathway from the Reactome Pathways 2024 dataset. |
collagen fibril organization Gene SetFrom GO Biological Process Annotations 2025 genes participating in the collagen fibril organization biological process from the curated GO Biological Process Annotations 2025 dataset. |
collagen catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the collagen catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
collagen-activated signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the collagen-activated signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of collagen fibril organization Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of collagen fibril organization biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of collagen fibril organization Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of collagen fibril organization biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of collagen catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of collagen catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of collagen catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of collagen catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of collagen metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of collagen metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
collagen-activated tyrosine kinase receptor signaling pathway Gene SetFrom GO Biological Process Annotations 2025 genes participating in the collagen-activated tyrosine kinase receptor signaling pathway biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of collagen fibril organization Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of collagen fibril organization biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of collagen binding Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of collagen binding biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of collagen catabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of collagen catabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
positive regulation of collagen metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the positive regulation of collagen metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of collagen biosynthetic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of collagen biosynthetic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of collagen metabolic process Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of collagen metabolic process biological process from the curated GO Biological Process Annotations 2025 dataset. |
collagen-containing extracellular matrix Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the collagen-containing extracellular matrix cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
interstitial hexagonal collagen network Gene SetFrom GO Cellular Component Annotations 2025 proteins localized to the interstitial hexagonal collagen network cellular component from the curated GO Cellular Component Annotations 2025 dataset. |
collagen binding involved in cell-matrix adhesion Gene SetFrom GO Molecular Function Annotations 2025 genes performing the collagen binding involved in cell-matrix adhesion molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
collagen V binding Gene SetFrom GO Molecular Function Annotations 2025 genes performing the collagen V binding molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
collagen receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the collagen receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
protein tyrosine kinase collagen receptor activity Gene SetFrom GO Molecular Function Annotations 2025 genes performing the protein tyrosine kinase collagen receptor activity molecular function from the curated GO Molecular Function Annotations 2025 dataset. |
Collagen disease Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Collagen disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Collagen disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Collagen disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Multiple epiphyseal dysplasia due to collagen 9 anomaly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Multiple epiphyseal dysplasia due to collagen 9 anomaly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Disseminated eosinophilic collagen disease Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Disseminated eosinophilic collagen disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
collagen-containing extracellular matrix Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the collagen-containing extracellular matrix cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen beaded filament Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen beaded filament cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Banded collagen fibril Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Banded collagen fibril cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Complex of collagen trimers Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Complex of collagen trimers cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Anchoring collagen complex Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Anchoring collagen complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen network Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen network cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen type VII anchoring fibril Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen type VII anchoring fibril cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen anchoring fibril Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen anchoring fibril cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
Collagen sheet Gene SetFrom COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Collagen sheet cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. |
collagen-containing extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the collagen-containing extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen network Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen network cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Complex of collagen trimers Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Complex of collagen trimers cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen beaded filament Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen beaded filament cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Anchoring collagen complex Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Anchoring collagen complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Banded collagen fibril Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Banded collagen fibril cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen sheet Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen sheet cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen anchoring fibril Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen anchoring fibril cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Medial layer of collagen and cuticulin-based cuticle extracellular matrix Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Medial layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen type VII anchoring fibril Gene SetFrom COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Collagen type VII anchoring fibril cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. |
Collagen 6-related myopathy Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Collagen 6-related myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
COLLAGEN POLYMORPH Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the COLLAGEN POLYMORPH phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Qualitative or quantitative defects of collagen Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Qualitative or quantitative defects of collagen phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Collagen biosynthesis and extracellular matrix organization Gene SetFrom CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Collagen biosynthesis and extracellular matrix organization assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. |
Collagen biosynthesis Gene SetFrom CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Collagen biosynthesis assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. |
Liver fibrosis (total hepatic collagen content) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Liver fibrosis (total hepatic collagen content) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Serum type 1 collagen metabolite levels Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Serum type 1 collagen metabolite levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Platelet reactivity measurement (collagen-ADP) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Platelet reactivity measurement (collagen-ADP) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Platelet reactivity measurement (collagen-epinephrine) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Platelet reactivity measurement (collagen-epinephrine) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
short insular gyri, right Gene SetFrom Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles genes with high or low expression in short insular gyri, right relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. |
short insular gyri, left Gene SetFrom Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles genes with high or low expression in short insular gyri, left relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. |
Short stature, idiopathic, autosomal Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, idiopathic, autosomal phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib-polydactyly syndrome, Majewski type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, optic nerve atrophy, and pelger-huet anomaly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Facial dysmorphism, immunodeficiency, livedo, and short stature Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ectodermal dysplasia/short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, idiopathic, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, idiopathic, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-sleeper Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-sleeper phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
short QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly, short stature, and impaired glucose metabolism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital short bowel syndrome, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib polydactyly syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short rib polydactyly syndrome 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SHORT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Brachyrachia (short spine dysplasia) Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Brachyrachia (short spine dysplasia) phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Yakut short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Yakut short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Spondylometaepiphyseal dysplasia short limb-hand type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, with Short Stature Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, with Short Stature from the curated CTD Gene-Disease Associations dataset. |
Short QT Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Short QT Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Short QT Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Short QT Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
Short QT Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Short QT Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Short Stature, Idiopathic, Autosomal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Short Stature, Idiopathic, Autosomal from the curated CTD Gene-Disease Associations dataset. |
Short Stature, Idiopathic, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Short Stature, Idiopathic, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type from the curated CTD Gene-Disease Associations dataset. |
Short Rib-Polydactyly Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Short Rib-Polydactyly Syndrome from the curated CTD Gene-Disease Associations dataset. |
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY from the curated CTD Gene-Disease Associations dataset. |
Memory, Short-Term Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Memory, Short-Term in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
short bowel syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease short bowel syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
memory, short-term Gene SetFrom GAD Gene-Disease Associations genes associated with the disease memory, short-term in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
short stature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease short stature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
idiopathic short stature Gene SetFrom GAD Gene-Disease Associations genes associated with the disease idiopathic short stature in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
multiple organ failure; short bowel syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease multiple organ failure; short bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
short-term response to haloperidol treatment Gene SetFrom GAD Gene-Disease Associations genes associated with the disease short-term response to haloperidol treatment in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
short Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term short in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
16478745-SuppTable1-short Gene SetFrom GeneSigDB Published Gene Signatures genes in signature reported in the publication with PubMedID 16478745-SuppTable1-short from the GeneSigDB Published Gene Signatures dataset. |
regulation of short-term neuronal synaptic plasticity Gene SetFrom GO Biological Process Annotations 2015 genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2015 dataset. |
short-term memory Gene SetFrom GO Biological Process Annotations 2015 genes participating in the short-term memory biological process from the curated GO Biological Process Annotations 2015 dataset. |
Hypertension risk in short sleep duration Gene SetFrom GWAS Catalog SNP-Phenotype Associations genes associated with the Hypertension risk in short sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. |
short attention span Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the short attention span phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
short distal phalanx of finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
moderately short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the moderately short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short nasal bridge Gene SetFrom HPO Gene-Disease Associations genes associated with the short nasal bridge phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short chordae tendineae of the tricuspid valve Gene SetFrom HPO Gene-Disease Associations genes associated with the short chordae tendineae of the tricuspid valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short nose Gene SetFrom HPO Gene-Disease Associations genes associated with the short nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 5th finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 5th toe Gene SetFrom HPO Gene-Disease Associations genes associated with the short 5th toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 4th toe Gene SetFrom HPO Gene-Disease Associations genes associated with the short 4th toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short diaphyses Gene SetFrom HPO Gene-Disease Associations genes associated with the short diaphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short metacarpals with rounded proximal ends Gene SetFrom HPO Gene-Disease Associations genes associated with the short metacarpals with rounded proximal ends phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 1st metacarpal Gene SetFrom HPO Gene-Disease Associations genes associated with the short 1st metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short femoral neck Gene SetFrom HPO Gene-Disease Associations genes associated with the short femoral neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short digit Gene SetFrom HPO Gene-Disease Associations genes associated with the short digit phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
relatively short spine Gene SetFrom HPO Gene-Disease Associations genes associated with the relatively short spine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short sacroiliac notch Gene SetFrom HPO Gene-Disease Associations genes associated with the short sacroiliac notch phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short chordae tendineae of the mitral valve Gene SetFrom HPO Gene-Disease Associations genes associated with the short chordae tendineae of the mitral valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short columella Gene SetFrom HPO Gene-Disease Associations genes associated with the short columella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short nail Gene SetFrom HPO Gene-Disease Associations genes associated with the short nail phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short fourth metatarsal Gene SetFrom HPO Gene-Disease Associations genes associated with the short fourth metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short humerus Gene SetFrom HPO Gene-Disease Associations genes associated with the short humerus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mesomelic short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the mesomelic short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short middle phalanx of finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short middle phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short philtrum Gene SetFrom HPO Gene-Disease Associations genes associated with the short philtrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short metatarsal Gene SetFrom HPO Gene-Disease Associations genes associated with the short metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short umbilical cord Gene SetFrom HPO Gene-Disease Associations genes associated with the short umbilical cord phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short upper lip Gene SetFrom HPO Gene-Disease Associations genes associated with the short upper lip phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short distal phalanx of the 3rd finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short palpebral fissure Gene SetFrom HPO Gene-Disease Associations genes associated with the short palpebral fissure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short femur Gene SetFrom HPO Gene-Disease Associations genes associated with the short femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short phalanx of the thumb Gene SetFrom HPO Gene-Disease Associations genes associated with the short phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short attention span Gene SetFrom HPO Gene-Disease Associations genes associated with the short attention span phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 5th metacarpal Gene SetFrom HPO Gene-Disease Associations genes associated with the short 5th metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short middle phalanx of the 5th finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short middle phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short proximal phalanx of finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short proximal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short chin Gene SetFrom HPO Gene-Disease Associations genes associated with the short chin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short thorax Gene SetFrom HPO Gene-Disease Associations genes associated with the short thorax phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short mandibular rami Gene SetFrom HPO Gene-Disease Associations genes associated with the short mandibular rami phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short lingual frenulum Gene SetFrom HPO Gene-Disease Associations genes associated with the short lingual frenulum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
disproportionate short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the disproportionate short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 3rd metacarpal Gene SetFrom HPO Gene-Disease Associations genes associated with the short 3rd metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short palm Gene SetFrom HPO Gene-Disease Associations genes associated with the short palm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short mandibular condyles Gene SetFrom HPO Gene-Disease Associations genes associated with the short mandibular condyles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 2nd toe Gene SetFrom HPO Gene-Disease Associations genes associated with the short 2nd toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short proximal phalanx of thumb Gene SetFrom HPO Gene-Disease Associations genes associated with the short proximal phalanx of thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mild short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the mild short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short middle phalanx of the 2nd finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short middle phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short neck Gene SetFrom HPO Gene-Disease Associations genes associated with the short neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short-limb dwarfism Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short-limb dwarfism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short phalanx of finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short foot Gene SetFrom HPO Gene-Disease Associations genes associated with the short foot phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short distal phalanx of the 5th finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short ribs Gene SetFrom HPO Gene-Disease Associations genes associated with the short ribs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short proximal phalanx of hallux Gene SetFrom HPO Gene-Disease Associations genes associated with the short proximal phalanx of hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 3rd finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short ear Gene SetFrom HPO Gene-Disease Associations genes associated with the short ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
proportionate short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the proportionate short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short toe Gene SetFrom HPO Gene-Disease Associations genes associated with the short toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short thumb Gene SetFrom HPO Gene-Disease Associations genes associated with the short thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short iliac bones Gene SetFrom HPO Gene-Disease Associations genes associated with the short iliac bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short lower limbs Gene SetFrom HPO Gene-Disease Associations genes associated with the short lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short distal phalanx of the thumb Gene SetFrom HPO Gene-Disease Associations genes associated with the short distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short phalanx of hallux Gene SetFrom HPO Gene-Disease Associations genes associated with the short phalanx of hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short hard palate Gene SetFrom HPO Gene-Disease Associations genes associated with the short hard palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short nasal septum Gene SetFrom HPO Gene-Disease Associations genes associated with the short nasal septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short distal phalanx of toe Gene SetFrom HPO Gene-Disease Associations genes associated with the short distal phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short metacarpal Gene SetFrom HPO Gene-Disease Associations genes associated with the short metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short distal phalanx of the 2nd finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short long bone Gene SetFrom HPO Gene-Disease Associations genes associated with the short long bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short sternum Gene SetFrom HPO Gene-Disease Associations genes associated with the short sternum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 4th finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short stepped shuffling gait Gene SetFrom HPO Gene-Disease Associations genes associated with the short stepped shuffling gait phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short distal phalanx of the 4th finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short tibia Gene SetFrom HPO Gene-Disease Associations genes associated with the short tibia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 2nd finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short 4th metacarpal Gene SetFrom HPO Gene-Disease Associations genes associated with the short 4th metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
severe short stature Gene SetFrom HPO Gene-Disease Associations genes associated with the severe short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short tubular bones (hand) Gene SetFrom HPO Gene-Disease Associations genes associated with the short tubular bones (hand) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short clavicles Gene SetFrom HPO Gene-Disease Associations genes associated with the short clavicles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short middle phalanx of toe Gene SetFrom HPO Gene-Disease Associations genes associated with the short middle phalanx of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short first metatarsal Gene SetFrom HPO Gene-Disease Associations genes associated with the short first metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short finger Gene SetFrom HPO Gene-Disease Associations genes associated with the short finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
short hallux Gene SetFrom HPO Gene-Disease Associations genes associated with the short hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Short Bowel Syndrome Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Short Bowel Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Memory, Short-Term Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Memory, Short-Term phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Short hematopoietin receptor, family 1, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Short hematopoietin receptor, family 1, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Short hematopoietin receptor, family 2, conserved site Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Short hematopoietin receptor, family 2, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
short nasal bone Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short nasal bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short frontal bone Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short frontal bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short perineum Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short perineum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short tail Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short tail phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short photoreceptor inner segment Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short squamosal bone Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short squamosal bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short malleus manubrium Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short malleus manubrium phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short metestrus Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short metestrus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short metatarsal bones Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short metatarsal bones phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short diestrus Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short diestrus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short photoreceptor outer segment Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short photoreceptor outer segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short vertebral body Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short vertebral body phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short zygomatic bone Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short zygomatic bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short fibula Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short fibula phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short palate Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short palate phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short premaxilla Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short premaxilla phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short excitatory postsynaptic current decay time Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short excitatory postsynaptic current decay time phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short proestrus Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short proestrus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short ureter Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short ureter phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short humerus Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short humerus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short uterine horn Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short uterine horn phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal short term object recognition memory Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal short term object recognition memory phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short tibia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short tibia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short radius Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short radius phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short ulna Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short ulna phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short stride length Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short stride length phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short vibrissae Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short vibrissae phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short umbilical cord Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short umbilical cord phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short malleus Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short malleus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short hair Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short hair phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short lumbar vertebrae Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short lumbar vertebrae phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short estrous cycle Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short estrous cycle phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short mandible Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short mandible phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short rostral-caudal axis Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short rostral-caudal axis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short cochlear hair cell stereocilia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short cochlear hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short maxilla Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short maxilla phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short kidney papilla Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short kidney papilla phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short outer hair cell stereocilia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short outer hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short endolymphatic duct Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short endolymphatic duct phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short oviduct Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short oviduct phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short presphenoid bone Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short presphenoid bone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short ribs Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short ribs phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short snout Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short snout phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short vertebral column Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short vertebral column phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short nails Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short nails phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short cochlear outer hair cells Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short cochlear outer hair cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short gestation period Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short gestation period phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short sternum Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short sternum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
abnormal short term spatial reference memory Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the abnormal short term spatial reference memory phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short neck Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short neck phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short femur Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short femur phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short inner hair cell stereocilia Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short inner hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short sperm flagellum Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short sperm flagellum phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short limbs Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short limbs phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short metacarpal bones Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short metacarpal bones phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short incisors Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short incisors phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short scapula Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short scapula phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short scala media Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short scala media phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short trachea Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short trachea phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short estrus Gene SetFrom MPO Gene-Phenotype Associations gene mutations causing the short estrus phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset. |
short syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the short syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 10 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 4 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 4 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
[short sleeper] Gene SetFrom OMIM Gene-Disease Associations genes associated with the [short sleeper] phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
ectodermal dysplasia/short stature syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ectodermal dysplasia/short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 6 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 6 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 7 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 7 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
spondylometaepiphyseal dysplasia, short limb-hand type Gene SetFrom OMIM Gene-Disease Associations genes associated with the spondylometaepiphyseal dysplasia, short limb-hand type phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 11 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset. |
congenital short bowel syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the congenital short bowel syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
short qt syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the short qt syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
short qt syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the short qt syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
short qt syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the short qt syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?retinal dystrophy, juvenile cataracts, and short stature syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, with short stature Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, with short stature phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 9 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, short stature, and impaired glucose metabolism Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, short stature, and impaired glucose metabolism phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 3 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 3 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
osteochondritis dissecans, short stature, and early-onset osteoarthritis Gene SetFrom OMIM Gene-Disease Associations genes associated with the osteochondritis dissecans, short stature, and early-onset osteoarthritis phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 8 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 8 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature with microcephaly and distinctive facies Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature with microcephaly and distinctive facies phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 2 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 2 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature, idiopathic familial Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature, idiopathic familial phenotype from the curated OMIM Gene-Disease Associations dataset. |
short stature, optic nerve atrophy, and pelger-huet anomaly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated OMIM Gene-Disease Associations dataset. |
short-rib thoracic dysplasia 5 with or without polydactyly Gene SetFrom OMIM Gene-Disease Associations genes associated with the short-rib thoracic dysplasia 5 with or without polydactyly phenotype from the curated OMIM Gene-Disease Associations dataset. |
multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene SetFrom OMIM Gene-Disease Associations genes associated with the multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated OMIM Gene-Disease Associations dataset. |
Ear, Patella, Short Stature Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ear, Patella, Short Stature Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Segment Hirschsprung'S Disease Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Segment Hirschsprung'S Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Corpus Callosum Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Corpus Callosum in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short-Term Memory Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short-Term Memory Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Stature Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Sleeper Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Sleeper Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Stature Homeobox Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Stature Homeobox Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Distal Phalanx Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Distal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short 2Nd Toe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short 2Nd Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Qt Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Qt Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Rib-Polydactyly Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Rib-Polydactyly Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short-Rib Thoracic Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Hard Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Hard Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Spondyloperipheral Dysplasia Short Ulna Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Spondyloperipheral Dysplasia Short Ulna in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Pituitary Short Stature Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Pituitary Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Bowel Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Bowel Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short 5Th Finger Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short 5Th Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Rib Dysplasia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Rib Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Middle Phalanx Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Middle Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Chordae Tendineae Of The Mitral Valve Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Chordae Tendineae Of The Mitral Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Chordae Tendineae Of The Tricuspid Valve Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Chordae Tendineae Of The Tricuspid Valve in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Severe Short-Limb Dwarfism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Severe Short-Limb Dwarfism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Bowel Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Bowel in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short 3Rd Finger Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short 3Rd Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Digit Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Digit in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Stature, Idiopathic, Autosomal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Stature, Idiopathic, Autosomal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Fifth Metatarsal Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Fifth Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Joint Laxity, Short Stature, And Myopia Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Joint Laxity, Short Stature, And Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Diaphyses Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short Diaphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Poor Short-Term Memory Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Poor Short-Term Memory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Shox-Related Short Stature Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Shox-Related Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short 5Th Toe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Short 5Th Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Relatively Short Spine Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Relatively Short Spine in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Stature, Ctcae Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Stature, Ctcae in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Finger Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Nose Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Distal Phalanx Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Distal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Hallux Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Hallux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Neck Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Neck in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Lower Third Of Face Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Lower Third Of Face in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Disproportionate Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Disproportionate Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Proportionate Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Proportionate Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Thorax Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Thorax in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Columella Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Columella in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Neck (In Some Patients) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Neck (In Some Patients) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Upturned Nose Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Upturned Nose in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short 1St Metacarpal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short 1St Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Toe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Extremities Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Extremities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Phalanx Of Finger Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Phalanx Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Philtrum Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Philtrum in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Foot Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Foot in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Long Bone Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Long Bone in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Metacarpals With Rounded Proximal Ends Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Metacarpals With Rounded Proximal Ends in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Palm Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Palm in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Memory, Short-Term Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Memory, Short-Term in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Stepped Shuffling Gait Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Stepped Shuffling Gait in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Humerus Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Humerus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Ribs Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Ribs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Tibia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Tibia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mild Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mild Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Leg Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Leg in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Palpebral Fissure Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Palpebral Fissure in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Upper Lip Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Upper Lip in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Sternum Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Sternum in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Nasal Septum Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Nasal Septum in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Telomere Length Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Telomere Length in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Clavicle Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Clavicle in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Femoral Neck Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Femoral Neck in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Iliac Bones Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Iliac Bones in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Metacarpal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Frenulum Of Tongue Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Frenulum Of Tongue in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Metatarsal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short 2Nd Finger Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short 2Nd Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short 2Nd Metacarpal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short 2Nd Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short 5Th Metacarpal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short 5Th Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Middle Phalanx Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Middle Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Proximal Phalanx Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Proximal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Ear Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Sperm Flagella Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Sperm Flagella in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Moderately Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Moderately Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Tubular Bones Of The Hand Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Tubular Bones Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short 4Th Metacarpal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short 4Th Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Fourth Metatarsal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Fourth Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Sacroiliac Notch Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Sacroiliac Notch in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short 3Rd Metacarpal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short 3Rd Metacarpal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Face Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Face in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Deficit In Phonologic Short-Term Memory Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Deficit In Phonologic Short-Term Memory in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Third Metatarsal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Third Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short First Metatarsal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short First Metatarsal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Stature, Postnatal Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Stature, Postnatal in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short-Rib Thoracic Dysplasia Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short-Rib Thoracic Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Mandibular Rami Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Mandibular Rami in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Cord Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Cord in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Nasal Bridge Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Nasal Bridge in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Dorsolateral Bowed, Short Radii Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Dorsolateral Bowed, Short Radii in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mesomelic Short Stature Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mesomelic Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Forearm Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Forearm in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Uvula Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Uvula in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short 4Th Toe Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short 4Th Toe in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Dental Roots Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Dental Roots in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Fetal Femur Length Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Fetal Femur Length in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Short Bowed Radii Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Short Bowed Radii in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
regulation of short-term neuronal synaptic plasticity Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2023 dataset. |
short-term memory Gene SetFrom GO Biological Process Annotations 2023 genes participating in the short-term memory biological process from the curated GO Biological Process Annotations 2023 dataset. |
short-term synaptic potentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
negative regulation of short-term synaptic potentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the negative regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
regulation of short-term synaptic potentiation Gene SetFrom GO Biological Process Annotations 2023 genes participating in the regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2023 dataset. |
short tibia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short tibia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short humerus Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short humerus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short radius Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short radius phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short ulna Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short ulna phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short mandible Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short mandible phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short maxilla Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short maxilla phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short zygomatic bone Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short zygomatic bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short ribs Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short ribs phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short femur Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short femur phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short rostral-caudal axis Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short rostral-caudal axis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short metacarpal bones Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short metacarpal bones phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short metatarsal bones Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short metatarsal bones phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short vertebral body Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short vertebral body phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short tail Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short tail phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short premaxilla Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short premaxilla phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short Meckel's cartilage Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short Meckel's cartilage phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short lower incisors Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short lower incisors phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short upper incisors Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short upper incisors phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short nasal septum Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short nasal septum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short vertebral column Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short vertebral column phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short snout Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short snout phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short limbs Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short limbs phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short fibula Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short fibula phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short oviduct Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short oviduct phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short photoreceptor outer segment Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short photoreceptor outer segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short vibrissae Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short vibrissae phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short sternum Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short sternum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short photoreceptor inner segment Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short malleus Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short malleus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short stride length Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short stride length phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short frontal bone Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short frontal bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short incisors Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short incisors phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short hair Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short hair phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short ears Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short ears phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short nasal bone Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short nasal bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short scapula Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short scapula phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short lumbar vertebrae Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short lumbar vertebrae phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short face Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short face phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short basicranium Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short basicranium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short trachea Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short trachea phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short endolymphatic duct Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short endolymphatic duct phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short cochlear outer hair cells Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short cochlear outer hair cells phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short estrous cycle Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short estrous cycle phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short diestrus Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short diestrus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short estrus Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short estrus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal incus short process morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal incus short process morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short inner hair cell stereocilia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short inner hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short sperm flagellum Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short sperm flagellum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short nails Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short nails phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short excitatory postsynaptic current decay time Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short excitatory postsynaptic current decay time phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short outer hair cell stereocilia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short outer hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short zygomatic arch Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short zygomatic arch phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short facial bone Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short facial bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short scala media Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short scala media phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short soft palate Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short soft palate phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short ureter Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short ureter phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short proestrus Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short proestrus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short styloid process Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short styloid process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short cochlear hair cell stereocilia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short cochlear hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short tongue Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short tongue phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short neck Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short neck phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short perineum Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short perineum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent incus short process Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent incus short process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal short-term spatial reference memory Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal short-term spatial reference memory phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short philtrum Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short philtrum phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short malleus manubrium Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short malleus manubrium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short umbilical cord Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short umbilical cord phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short Tomes' process Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short Tomes' process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short gestation period Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short gestation period phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short uterine horn Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short uterine horn phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short femur neck Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short femur neck phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short chin Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short chin phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
abnormal short-term object recognition memory Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal short-term object recognition memory phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short ilium Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short ilium phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short temporal bone squamous part Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short temporal bone squamous part phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short tooth root Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short tooth root phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short nasal bridge Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short nasal bridge phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short vestibular hair cell stereocilia Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short vestibular hair cell stereocilia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short metestrus Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short metestrus phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short forehead Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short forehead phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short presphenoid bone Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short presphenoid bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short kidney papilla Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short kidney papilla phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short mandibular coronoid process Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short mandibular coronoid process phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short excitatory postsynaptic current rise time Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short excitatory postsynaptic current rise time phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short parietal bone Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the short parietal bone phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
short tibia Gene SetFrom IMPC Knockout Mouse Phenotypes gene knockouts causing the short tibia phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset. |
Human - Tonsil - L2 - Short lived IgM+ PC Gene SetFrom HuBMAP Azimuth Cell Type Annotations genes associated with the Human - Tonsil - L2 - Short lived IgM+ PC cell type from the HuBMAP Azimuth Cell Type Annotations dataset. |
Short Loop Descending Limb cell_Kidney_Mouse Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Short Loop Descending Limb cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset. |
Short-lived effector cell (SLEC)_Undefined_Human Gene SetFrom CellMarker Gene-Cell Type Associations genes associated with the Short-lived effector cell (SLEC)_Undefined_Human cell type from the CellMarker Gene-Cell Type Associations dataset. |
regulation of short-term neuronal synaptic plasticity Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of short-term neuronal synaptic plasticity biological process from the curated GO Biological Process Annotations 2025 dataset. |
short-term memory Gene SetFrom GO Biological Process Annotations 2025 genes participating in the short-term memory biological process from the curated GO Biological Process Annotations 2025 dataset. |
short-term synaptic potentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
negative regulation of short-term synaptic potentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the negative regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
regulation of short-term synaptic potentiation Gene SetFrom GO Biological Process Annotations 2025 genes participating in the regulation of short-term synaptic potentiation biological process from the curated GO Biological Process Annotations 2025 dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease short-rib thoracic dysplasia 9 with or without polydactyly from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Short QT syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Short QT syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
SHORT syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease SHORT syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Short bowel syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Short bowel syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Short QT syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Short QT syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
SHORT syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease SHORT syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
microcephaly, short stature, and limb abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease microcephaly, short stature, and limb abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 9 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 9 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 6 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 6 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 10 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 10 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with short stature and behavioral abnormalities Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with short stature and behavioral abnormalities in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Short stature, hearing loss, retinitis pigmentosa, and distinctive facies in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 14 with polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 14 with polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Spondylometaepiphyseal dysplasia, short limb-hand type Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Spondylometaepiphyseal dysplasia, short limb-hand type in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked intellectual disability-short stature-overweight syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked intellectual disability-short stature-overweight syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 8 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 8 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
SHOX-related short stature Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease SHOX-related short stature in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 11 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 11 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 13 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 13 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
short-rib thoracic dysplasia 7 with or without polydactyly Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease short-rib thoracic dysplasia 7 with or without polydactyly in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Lethal short-limb skeletal dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Lethal short-limb skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short QT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short-rib thoracic dysplasia Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short-rib thoracic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to growth hormone secretagogue receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone secretagogue receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to partial GHR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to partial GHR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SHOX-related short stature Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SHOX-related short stature phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature and advanced bone age Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature and advanced bone age phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to growth hormone qualitative anomaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to growth hormone qualitative anomaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short fetal femur length Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short fetal femur length phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-optic atrophy-Pelger-Huet anomaly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-optic atrophy-Pelger-Huet anomaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Facial dysmorphism-immunodeficiency-livedo-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Congenital short bowel syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Congenital short bowel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
SHORT syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short rib-polydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short rib-polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-pituitary and cerebellar defects-small sella turcica syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-pituitary and cerebellar defects-small sella turcica syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-brachydactyly-obesity-global developmental delay syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-brachydactyly-obesity-global developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked intellectual disability-short stature-overweight syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the X-linked intellectual disability-short stature-overweight syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature due to primary acid-labile subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature due to primary acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Proportionate short stature Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Proportionate short stature phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short ribs Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short ribs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short rib polydactyly syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short rib polydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short telomere length Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short telomere length phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature and microcephaly Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature and microcephaly phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Short 5th finger Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Short 5th finger phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
First year height change in growth hormone-treated short stature Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the First year height change in growth hormone-treated short stature phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
LDL cholesterol levels x short total sleep time interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the LDL cholesterol levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HDL cholesterol levels x short total sleep time interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HDL cholesterol levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Triglyceride levels x short total sleep time interaction (2df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Triglyceride levels x short total sleep time interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Triglyceride levels x short total sleep time interaction (1df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Triglyceride levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
HDL cholesterol levels x short total sleep time interaction (1df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the HDL cholesterol levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
LDL cholesterol levels x short total sleep time interaction (1df test) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the LDL cholesterol levels x short total sleep time interaction (1df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Short-term memory (visuospatial task) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Short-term memory (visuospatial task) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Short-term memory (digit-span task) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Short-term memory (digit-span task) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Sleep duration (short sleep) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Sleep duration (short sleep) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Hypertension risk in short sleep duration Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Hypertension risk in short sleep duration phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Fasting glucose change (short-term) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Fasting glucose change (short-term) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |