hyperextensible skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A condition in which the skin can be stretched beyond normal, and then returns to its initial position. (Human Phenotype Ontology, HP_0000974)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000974
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Genes

39 genes associated with the hyperextensible skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ANTXR1 anthrax toxin receptor 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP14 FK506 binding protein 14, 22 kDa
GORAB golgin, RAB6-interacting
KRAS Kirsten rat sarcoma viral oncogene homolog
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
PAX2 paired box 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RIN2 Ras and Rab interactor 2
RIT1 Ras-like without CAAX 1
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
TNXB tenascin XB