abnormal skin condition Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the state or quality of the skin (Mammalian Phenotype Ontology, MP_0001191)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001191
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Genes

194 gene mutations causing the abnormal skin condition 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)
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AHR aryl hydrocarbon receptor
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALX4 ALX homeobox 4
ANGPT2 angiopoietin 2
APC adenomatous polyposis coli
ARRDC3 arrestin domain containing 3
ATE1 arginyltransferase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
AURKB aurora kinase B
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
CALCRL calcitonin receptor-like
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CASP14 caspase 14, apoptosis-related cysteine peptidase
CD34 CD34 molecule
CD47 CD47 molecule
CDK11A cyclin-dependent kinase 11A
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CHUK conserved helix-loop-helix ubiquitous kinase
CLEC1B C-type lectin domain family 1, member B
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
CRH corticotropin releasing hormone
CST6 cystatin E/M
CTSV cathepsin V
CYLD cylindromatosis (turban tumor syndrome)
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DCN decorin
DDB2 damage-specific DNA binding protein 2, 48kDa
DGAT1 diacylglycerol O-acyltransferase 1
DIAPH1 diaphanous-related formin 1
DNM1L dynamin 1-like
DPT dermatopontin
DSG4 desmoglein 4
E2F1 E2F transcription factor 1
EAF2 ELL associated factor 2
EDA ectodysplasin A
EDARADD EDAR-associated death domain
EGR1 early growth response 1
ELOVL4 ELOVL fatty acid elongase 4
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERCC1 excision repair cross-complementation group 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
ERRFI1 ERBB receptor feedback inhibitor 1
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBN1 fibrillin 1
FECH ferrochelatase
FGF10 fibroblast growth factor 10
FGF23 fibroblast growth factor 23
FGFR2 fibroblast growth factor receptor 2
FLG filaggrin
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXN1 forkhead box N1
GADD45A growth arrest and DNA-damage-inducible, alpha
GBA glucosidase, beta, acid
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
GFRA1 GDNF family receptor alpha 1
GFRA2 GDNF family receptor alpha 2
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GRM1 glutamate receptor, metabotropic 1
GSTP1 glutathione S-transferase pi 1
HMGN1 high mobility group nucleosome binding domain 1
HOXB8 homeobox B8
HR hair growth associated
HTT huntingtin
IL17C interleukin 17C
IL17RA interleukin 17 receptor A
IL17RE interleukin 17 receptor E
IL1RN interleukin 1 receptor antagonist
IL36RN interleukin 36 receptor antagonist
ITGA6 integrin, alpha 6
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB4 integrin, beta 4
JDP2 Jun dimerization protein 2
JMJD6 jumonji domain containing 6
KAT6A K(lysine) acetyltransferase 6A
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KIFAP3 kinesin-associated protein 3
KL klotho
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT71 keratin 71, type II
KRT9 keratin 9, type I
LACTB2 lactamase, beta 2
LBR lamin B receptor
LDLR low density lipoprotein receptor
LEF1 lymphoid enhancer-binding factor 1
LOR loricrin
LPAR4 lysophosphatidic acid receptor 4
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LSR lipolysis stimulated lipoprotein receptor
LUM lumican
MAPKAPK5 mitogen-activated protein kinase-activated protein kinase 5
MECOM MDS1 and EVI1 complex locus
MIR205 microRNA 205
MLH1 mutL homolog 1
MME membrane metallo-endopeptidase
MORF4L1 mortality factor 4 like 1
MPV17 MpV17 mitochondrial inner membrane protein
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NEU1 sialidase 1 (lysosomal sialidase)
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
NOTCH2 notch 2
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NQO1 NAD(P)H dehydrogenase, quinone 1
NQO2 NAD(P)H dehydrogenase, quinone 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NTF4 neurotrophin 4
OED Oregon eye disease
ORAI1 ORAI calcium release-activated calcium modulator 1
OVOL1 ovo-like zinc finger 1
PAK1IP1 PAK1 interacting protein 1
PAQR3 progestin and adipoQ receptor family member III
PBX1 pre-B-cell leukemia homeobox 1
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDX1 pancreatic and duodenal homeobox 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLCD1 phospholipase C, delta 1
PLVAP plasmalemma vesicle associated protein
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLH polymerase (DNA directed), eta
PPARD peroxisome proliferator-activated receptor delta
PPP1R13B protein phosphatase 1, regulatory subunit 13B
PRKCA protein kinase C, alpha
PRKCH protein kinase C, eta
PSEN1 presenilin 1
PTCH1 patched 1
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RAD23B RAD23 homolog B (S. cerevisiae)
RAG1 recombination activating gene 1
RB1 retinoblastoma 1
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RINT1 RAD50 interactor 1
RIPK4 receptor-interacting serine-threonine kinase 4
RNF8 ring finger protein 8, E3 ubiquitin protein ligase
RUNX1 runt-related transcription factor 1
RXRA retinoid X receptor, alpha
RYR1 ryanodine receptor 1 (skeletal)
SC5D sterol-C5-desaturase
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCG5 secretogranin V
SFN stratifin
SHARPIN SHANK-associated RH domain interactor
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMAD7 SMAD family member 7
SNAP25 synaptosomal-associated protein, 25kDa
SOS1 son of sevenless homolog 1 (Drosophila)
SOX18 SRY (sex determining region Y)-box 18
SPINK1 serine peptidase inhibitor, Kazal type 1
SREBF2 sterol regulatory element binding transcription factor 2
STAG1 stromal antigen 1
TAL1 T-cell acute lymphocytic leukemia 1
TBK1 TANK-binding kinase 1
TBX1 T-box 1
THBS1 thrombospondin 1
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TMEM79 transmembrane protein 79
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNK1 tyrosine kinase, non-receptor, 1
TOM1L2 target of myb1-like 2 (chicken)
TP53 tumor protein p53
TP63 tumor protein p63
TPH2 tryptophan hydroxylase 2
TROVE2 TROVE domain family, member 2
TTC7A tetratricopeptide repeat domain 7A
TWF1 twinfilin actin binding protein 1
TWIST2 twist family bHLH transcription factor 2
UROS uroporphyrinogen III synthase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZDHHC21 zinc finger, DHHC-type containing 21
ZFPM2 zinc finger protein, FOG family member 2