skin lesions Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin (Mammalian Phenotype Ontology, MP_0001212)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001212
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
AEBP1 AE binding protein 1
AHR aryl hydrocarbon receptor
APOE apolipoprotein E
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BHLHE22 basic helix-loop-helix family, member e22
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CHUK conserved helix-loop-helix ubiquitous kinase
CLIC4 chloride intracellular channel 4
COL3A1 collagen, type III, alpha 1
COL5A2 collagen, type V, alpha 2
CTSE cathepsin E
CTSV cathepsin V
DGAT1 diacylglycerol O-acyltransferase 1
DLGAP3 discs, large (Drosophila) homolog-associated protein 3
DSC1 desmocollin 1
DSG3 desmoglein 3
E2F4 E2F transcription factor 4, p107/p130-binding
EBP emopamil binding protein (sterol isomerase)
ERRFI1 ERBB receptor feedback inhibitor 1
FADS2 fatty acid desaturase 2
FAS Fas cell surface death receptor
FES FES proto-oncogene, tyrosine kinase
FLG filaggrin
FN1 fibronectin 1
FOXP3 forkhead box P3
GNAS GNAS complex locus
GRHL3 grainyhead-like 3 (Drosophila)
HOXB8 homeobox B8
HR hair growth associated
IFNE interferon, epsilon
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RN interleukin 1 receptor antagonist
IRF2 interferon regulatory factor 2
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
JAK1 Janus kinase 1
KRT16 keratin 16, type I
LAMC2 laminin, gamma 2
LUM lumican
MECP2 methyl CpG binding protein 2
MPZL3 myelin protein zero-like 3
MTA2 metastasis associated 1 family, member 2
NAGLU N-acetylglucosaminidase, alpha
NCF1 neutrophil cytosolic factor 1
NEIL1 nei endonuclease VIII-like 1 (E. coli)
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
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLCB3 phospholipase C, beta 3 (phosphatidylinositol-specific)
PLEC plectin
PORCN porcupine homolog (Drosophila)
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PRDM8 PR domain containing 8
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTCH2 patched 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RBL1 retinoblastoma-like 1
RECQL4 RecQ protein-like 4
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCN11A sodium channel, voltage gated, type XI alpha subunit
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHARPIN SHANK-associated RH domain interactor
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLITRK5 SLIT and NTRK-like family, member 5
SPINK5 serine peptidase inhibitor, Kazal type 5
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
TNF tumor necrosis factor
TOM1L2 target of myb1-like 2 (chicken)
TP53 tumor protein p53
TP63 tumor protein p63
TTC7A tetratricopeptide repeat domain 7A
TWIST2 twist family bHLH transcription factor 2