abnormality of skin physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the physiological function of the skin. (Human Phenotype Ontology, HP_0011122)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011122
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Genes

232 genes associated with the abnormality of skin physiology 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
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
AGA aspartylglucosaminidase
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
AK2 adenylate kinase 2
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
APCDD1 adenomatosis polyposis coli down-regulated 1
APOA1 apolipoprotein A-I
AQP5 aquaporin 5
ARID1B AT rich interactive domain 1B (SWI1-like)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BAAT bile acid CoA:amino acid N-acyltransferase
BLNK B-cell linker
BRAF B-Raf proto-oncogene, serine/threonine kinase
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
C4A complement component 4A (Rodgers blood group)
C5 complement component 5
CARD14 caspase recruitment domain family, member 14
CARD9 caspase recruitment domain family, member 9
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CCBE1 collagen and calcium binding EGF domains 1
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CDSN corneodesmosin
CECR1 cat eye syndrome chromosome region, candidate 1
CERS3 ceramide synthase 3
CFI complement factor I
CHD7 chromodomain helicase DNA binding protein 7
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIITA class II, major histocompatibility complex, transactivator
CLEC7A C-type lectin domain family 7, member A
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSC cathepsin C
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCLRE1C DNA cross-link repair 1C
DHCR7 7-dehydrocholesterol reductase
DNASE1L3 deoxyribonuclease I-like 3
DOCK8 dedicator of cytokinesis 8
DSG1 desmoglein 1
DSG4 desmoglein 4
EBP emopamil binding protein (sterol isomerase)
ECM1 extracellular matrix protein 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPOR erythropoietin receptor
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
FAM111B family with sequence similarity 111, member B
FAT4 FAT atypical cadherin 4
FECH ferrochelatase
FERMT1 fermitin family member 1
FGA fibrinogen alpha chain
FGFR2 fibroblast growth factor receptor 2
FH fumarate hydratase
FLG filaggrin
FOXP3 forkhead box P3
GATA3 GATA binding protein 3
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLUL glutamate-ammonia ligase
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2H5 general transcription factor IIH, polypeptide 5
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HDAC4 histone deacetylase 4
HFE hemochromatosis
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRA major histocompatibility complex, class II, DR alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IFIH1 interferon induced with helicase C domain 1
IGHM immunoglobulin heavy constant mu
IGHV4-34 immunoglobulin heavy variable 4-34
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL12RB2 interleukin 12 receptor, beta 2
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL23R interleukin 23 receptor
IL2RG interleukin 2 receptor, gamma
IL31RA interleukin 31 receptor A
IL36RN interleukin 36 receptor antagonist
IL6 interleukin 6
IL7R interleukin 7 receptor
JAK2 Janus kinase 2
KANSL1 KAT8 regulatory NSL complex subunit 1
KIF11 kinesin family member 11
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT16 keratin 16, type I
KRT5 keratin 5, type II
KRT9 keratin 9, type I
LBR lamin B receptor
LHCGR luteinizing hormone/choriogonadotropin receptor
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPH lipase, member H
LIPN lipase, family member N
LMBRD1 LMBR1 domain containing 1
LPAR6 lysophosphatidic acid receptor 6
LPIN2 lipin 2
LRRC8A leucine rich repeat containing 8 family, member A
LYST lysosomal trafficking regulator
LYZ lysozyme
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCCC2 methylcrotonoyl-CoA carboxylase 2 (beta)
MEFV Mediterranean fever
MEIS2 Meis homeobox 2
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MNX1 motor neuron and pancreas homeobox 1
MPL MPL proto-oncogene, thrombopoietin receptor
MVK mevalonate kinase
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NIPAL4 NIPA-like domain containing 4
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OSMR oncostatin M receptor
PAH phenylalanine hydroxylase
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PEPD peptidase D
PGM3 phosphoglucomutase 3
PI3 peptidase inhibitor 3, skin-derived
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKP1 plakophilin 1
PNPLA1 patatin-like phospholipase domain containing 1
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRTN3 proteinase 3
PSEN1 presenilin 1
PSENEN presenilin enhancer gamma secretase subunit
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTPRC protein tyrosine phosphatase, receptor type, C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM8A RNA binding motif protein 8A
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPL21 ribosomal protein L21
SAT1 spermidine/spermine N1-acetyltransferase 1
SBDS Shwachman-Bodian-Diamond syndrome
SCN9A sodium channel, voltage gated, type IX alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SH3PXD2B SH3 and PX domains 2B
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC30A2 solute carrier family 30 (zinc transporter), member 2
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SNRPE small nuclear ribonucleoprotein polypeptide E
SPINK5 serine peptidase inhibitor, Kazal type 5
SRD5A3 steroid 5 alpha-reductase 3
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
SUOX sulfite oxidase
TBX1 T-box 1
TCF3 transcription factor 3
TET2 tet methylcytosine dioxygenase 2
TGM1 transglutaminase 1
THPO thrombopoietin
TJP2 tight junction protein 2
TLR4 toll-like receptor 4
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TRPV3 transient receptor potential cation channel, subfamily V, member 3
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
UROD uroporphyrinogen decarboxylase
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT4 wingless-type MMTV integration site family, member 4
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZNF750 zinc finger protein 750