thin skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. (Human Phenotype Ontology, HP_0000963)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000963
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Genes

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

Symbol Name
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AIP aryl hydrocarbon receptor interacting protein
ALAD aminolevulinate dehydratase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ARMC5 armadillo repeat containing 5
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
CHUK conserved helix-loop-helix ubiquitous kinase
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
COL7A1 collagen, type VII, alpha 1
CPOX coproporphyrinogen oxidase
CTC1 CTS telomere maintenance complex component 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
FERMT1 fermitin family member 1
FLNA filamin A, alpha
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GORAB golgin, RAB6-interacting
HFE hemochromatosis
KRT2 keratin 2, type II
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
MTAP methylthioadenosine phosphorylase
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSDHL NAD(P) dependent steroid dehydrogenase-like
ORC1 origin recognition complex, subunit 1
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
PEPD peptidase D
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PORCN porcupine homolog (Drosophila)
PPOX protoporphyrinogen oxidase
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PTDSS1 phosphatidylserine synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
SATB2 SATB homeobox 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SOX18 SRY (sex determining region Y)-box 18
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TNXB tenascin XB
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
UBE3B ubiquitin protein ligase E3B
UROD uroporphyrinogen decarboxylase
ZMPSTE24 zinc metallopeptidase STE24