abnormal skin physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the membranous protective covering of the body (Mammalian Phenotype Ontology, MP_0005501)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005501
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Genes

203 gene mutations causing the abnormal skin physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABHD5 abhydrolase domain containing 5
ACKR2 atypical chemokine receptor 2
ADAM17 ADAM metallopeptidase domain 17
AHR aryl hydrocarbon receptor
ALOX12 arachidonate 12-lipoxygenase
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOX15 arachidonate 15-lipoxygenase
ALOXE3 arachidonate lipoxygenase 3
ARIH2 ariadne RBR E3 ubiquitin protein ligase 2
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BLMH bleomycin hydrolase
BRCA1 breast cancer 1, early onset
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CARD11 caspase recruitment domain family, member 11
CASP14 caspase 14, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CD109 CD109 molecule
CD151 CD151 molecule (Raph blood group)
CD44 CD44 molecule (Indian blood group)
CD47 CD47 molecule
CDH5 cadherin 5, type 2 (vascular endothelium)
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CERS3 ceramide synthase 3
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHUK conserved helix-loop-helix ubiquitous kinase
CLDN1 claudin 1
CLIC4 chloride intracellular channel 4
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COL14A1 collagen, type XIV, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
CST6 cystatin E/M
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CTSE cathepsin E
CTSV cathepsin V
CYLD cylindromatosis (turban tumor syndrome)
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYSLTR2 cysteinyl leukotriene receptor 2
DACT2 dishevelled-binding antagonist of beta-catenin 2
DCN decorin
DDB2 damage-specific DNA binding protein 2, 48kDa
DGAT2 diacylglycerol O-acyltransferase 2
DGKD diacylglycerol kinase, delta 130kDa
DIAPH1 diaphanous-related formin 1
DPT dermatopontin
DSC1 desmocollin 1
DSE dermatan sulfate epimerase
DSG4 desmoglein 4
E2F1 E2F transcription factor 1
ELOVL1 ELOVL fatty acid elongase 1
ELOVL3 ELOVL fatty acid elongase 3
ELOVL4 ELOVL fatty acid elongase 4
EPPK1 epiplakin 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EREG epiregulin
ESR2 estrogen receptor 2 (ER beta)
F2RL1 coagulation factor II (thrombin) receptor-like 1
FABP5 fatty acid binding protein 5 (psoriasis-associated)
FADS2 fatty acid desaturase 2
FASLG Fas ligand (TNF superfamily, member 6)
FBN1 fibrillin 1
FECH ferrochelatase
FERMT1 fermitin family member 1
FLG filaggrin
FOXO3 forkhead box O3
FOXP3 forkhead box P3
FTO fat mass and obesity associated
GAB1 GRB2-associated binding protein 1
GADD45A growth arrest and DNA-damage-inducible, alpha
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJA1 gap junction protein, alpha 1, 43kDa
GRHL3 grainyhead-like 3 (Drosophila)
HIC1 hypermethylated in cancer 1
HMGN1 high mobility group nucleosome binding domain 1
IFNG interferon, gamma
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17C interleukin 17C
IL17RA interleukin 17 receptor A
IL17RE interleukin 17 receptor E
IL1RN interleukin 1 receptor antagonist
IL36RN interleukin 36 receptor antagonist
IL4 interleukin 4
ILK integrin-linked kinase
IRF2 interferon regulatory factor 2
IRF6 interferon regulatory factor 6
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
JAK1 Janus kinase 1
JDP2 Jun dimerization protein 2
JUP junction plakoglobin
KDF1 keratinocyte differentiation factor 1
KITLG KIT ligand
KLF10 Kruppel-like factor 10
KLF4 Kruppel-like factor 4 (gut)
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT9 keratin 9, type I
LAMC2 laminin, gamma 2
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LOR loricrin
LOX lysyl oxidase
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LTC4S leukotriene C4 synthase
LUM lumican
MAP3K6 mitogen-activated protein kinase kinase kinase 6
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MEFV Mediterranean fever
MIA3 melanoma inhibitory activity family, member 3
MIR205 microRNA 205
MME membrane metallo-endopeptidase
MPZL3 myelin protein zero-like 3
MTA2 metastasis associated 1 family, member 2
NDFIP1 Nedd4 family interacting protein 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NLRP3 NLR family, pyrin domain containing 3
NOS2 nitric oxide synthase 2, inducible
NSMAF neutral sphingomyelinase (N-SMase) activation associated factor
OED Oregon eye disease
OGN osteoglycin
OVOL1 ovo-like zinc finger 1
PAQR3 progestin and adipoQ receptor family member III
PKP3 plakophilin 3
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
POLB polymerase (DNA directed), beta
POLH polymerase (DNA directed), eta
PPARD peroxisome proliferator-activated receptor delta
PPM1A protein phosphatase, Mg2+/Mn2+ dependent, 1A
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRSS8 protease, serine, 8
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RARG retinoic acid receptor, gamma
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
SAV1 salvador family WW domain containing protein 1
SCARA5 scavenger receptor class A, member 5
SCARF1 scavenger receptor class F, member 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SFN stratifin
SGPP1 sphingosine-1-phosphate phosphatase 1
SH3BP2 SH3-domain binding protein 2
SHARPIN SHANK-associated RH domain interactor
SHH sonic hedgehog
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SMAD3 SMAD family member 3
SOCS1 suppressor of cytokine signaling 1
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1
TBK1 TANK-binding kinase 1
TGFB1 transforming growth factor, beta 1
TGM1 transglutaminase 1
TGM3 transglutaminase 3
THBS1 thrombospondin 1
THBS2 thrombospondin 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM79 transmembrane protein 79
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TOM1L2 target of myb1-like 2 (chicken)
TOP3B topoisomerase (DNA) III beta
TP53 tumor protein p53
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TREX2 three prime repair exonuclease 2
TRIM21 tripartite motif containing 21
TROVE2 TROVE domain family, member 2
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TYR tyrosinase
UROS uroporphyrinogen III synthase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR1 WD repeat domain 1
WDR48 WD repeat domain 48
XPC xeroderma pigmentosum, complementation group C
ZDHHC21 zinc finger, DHHC-type containing 21
ZFP36 ZFP36 ring finger protein