skin inflammation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. (Human Disease Ontology, DOID_2723)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004947
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Genes

76 gene mutations causing the skin inflammation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR2 atypical chemokine receptor 2
ADAM17 ADAM metallopeptidase domain 17
ALOX15 arachidonate 15-lipoxygenase
ARIH2 ariadne RBR E3 ubiquitin protein ligase 2
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
CD109 CD109 molecule
CHUK conserved helix-loop-helix ubiquitous kinase
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CTSE cathepsin E
CTSV cathepsin V
DIAPH1 diaphanous-related formin 1
DSC1 desmocollin 1
DSG4 desmoglein 4
ELOVL3 ELOVL fatty acid elongase 3
EREG epiregulin
FADS2 fatty acid desaturase 2
FASLG Fas ligand (TNF superfamily, member 6)
FLG filaggrin
FOXO3 forkhead box O3
FOXP3 forkhead box P3
FTO fat mass and obesity associated
HIC1 hypermethylated in cancer 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17RA interleukin 17 receptor A
IL1RN interleukin 1 receptor antagonist
IL36RN interleukin 36 receptor antagonist
IRF2 interferon regulatory factor 2
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
KITLG KIT ligand
LOR loricrin
MEFV Mediterranean fever
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
PKP3 plakophilin 3
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
POLB polymerase (DNA directed), beta
PPARD peroxisome proliferator-activated receptor delta
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
REL v-rel avian reticuloendotheliosis viral oncogene homolog
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
SCARA5 scavenger receptor class A, member 5
SCARF1 scavenger receptor class F, member 1
SH3BP2 SH3-domain binding protein 2
SHARPIN SHANK-associated RH domain interactor
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SOCS1 suppressor of cytokine signaling 1
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
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM79 transmembrane protein 79
TNF tumor necrosis factor
TOM1L2 target of myb1-like 2 (chicken)
TOP3B topoisomerase (DNA) III beta
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TRIM21 tripartite motif containing 21
TRPV3 transient receptor potential cation channel, subfamily V, member 3
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR1 WD repeat domain 1
ZFP36 ZFP36 ring finger protein