lack of skin elasticity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100679
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Genes

34 genes associated with the lack of skin elasticity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ADAMTSL2 ADAMTS-like 2
AIP aryl hydrocarbon receptor interacting protein
ALOX12B arachidonate 12-lipoxygenase, 12R type
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
COL3A1 collagen, type III, alpha 1
CUL4B cullin 4B
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
FBN1 fibrillin 1
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HDAC8 histone deacetylase 8
HRAS Harvey rat sarcoma viral oncogene homolog
LBR lamin B receptor
LIPN lipase, family member N
LMNA lamin A/C
NIPAL4 NIPA-like domain containing 4
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PAH phenylalanine hydroxylase
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
PHGDH phosphoglycerate dehydrogenase
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSAT1 phosphoserine aminotransferase 1
SH3BP2 SH3-domain binding protein 2
SMAD3 SMAD family member 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM1 transglutaminase 1
TNXB tenascin XB
WRN Werner syndrome, RecQ helicase-like
ZMPSTE24 zinc metallopeptidase STE24