dry skin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Skin characterized by the lack of natural or normal moisture. (Human Phenotype Ontology, HP_0000958)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000958
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Genes

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

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ADA adenosine deaminase
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BRAF B-Raf proto-oncogene, serine/threonine kinase
BTD biotinidase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CHD7 chromodomain helicase DNA binding protein 7
CLDN1 claudin 1
CTGF connective tissue growth factor
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
DCLRE1C DNA cross-link repair 1C
DOLK dolichol kinase
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
ELOVL4 ELOVL fatty acid elongase 4
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FERMT1 fermitin family member 1
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FUCA1 fucosidase, alpha-L- 1, tissue
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
HESX1 HESX homeobox 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
IFT43 intraflagellar transport 43
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
INSR insulin receptor
IRF5 interferon regulatory factor 5
KANSL1 KAT8 regulatory NSL complex subunit 1
KIAA0319L KIAA0319-like
KIF11 kinesin family member 11
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
LIPN lipase, family member N
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MPST mercaptopyruvate sulfurtransferase
NAGA N-acetylgalactosaminidase, alpha-
NIPAL4 NIPA-like domain containing 4
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH2 notch 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OFD1 oral-facial-digital syndrome 1
OTX2 orthodenticle homeobox 2
PAH phenylalanine hydroxylase
PAX8 paired box 8
PCNT pericentrin
PEPD peptidase D
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PKP1 plakophilin 1
POLH polymerase (DNA directed), eta
POT1 protection of telomeres 1
PROKR2 prokineticin receptor 2
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SAT1 spermidine/spermine N1-acetyltransferase 1
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPINK5 serine peptidase inhibitor, Kazal type 5
STS steroid sulfatase (microsomal), isozyme S
TERT telomerase reverse transcriptase
TGM1 transglutaminase 1
THRA thyroid hormone receptor, alpha
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRH thyrotropin-releasing hormone
TRPM1 transient receptor potential cation channel, subfamily M, member 1
UBE2A ubiquitin-conjugating enzyme E2A
UVSSA UV-stimulated scaffold protein A
WNT10A wingless-type MMTV integration site family, member 10A