dermal atrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004334
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Genes

45 genes associated with the dermal atrophy 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
AIP aryl hydrocarbon receptor interacting protein
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
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
CUL4B cullin 4B
DDB2 damage-specific DNA binding protein 2, 48kDa
DKC1 dyskeratosis congenita 1, dyskerin
DST dystonin
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
FBN1 fibrillin 1
FERMT1 fermitin family member 1
GNAS GNAS complex locus
HDAC8 histone deacetylase 8
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LMNA lamin A/C
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLH polymerase (DNA directed), eta
PORCN porcupine homolog (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
RECQL4 RecQ protein-like 4
SH3BP2 SH3-domain binding protein 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD3 SMAD family member 3
TERC telomerase RNA component
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TNXB tenascin XB
TP63 tumor protein p63
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZMPSTE24 zinc metallopeptidase STE24