abnormal epidermis stratum spinosum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance (Mammalian Phenotype Ontology, MP_0001236)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001236
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Genes

51 gene mutations causing the abnormal epidermis stratum spinosum morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABHD5 abhydrolase domain containing 5
AHR aryl hydrocarbon receptor
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BRCA2 breast cancer 2, early onset
CBS cystathionine-beta-synthase
CDSN corneodesmosin
CHUK conserved helix-loop-helix ubiquitous kinase
CTSV cathepsin V
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DKC1 dyskeratosis congenita 1, dyskerin
DSC1 desmocollin 1
DSG3 desmoglein 3
DSG4 desmoglein 4
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
FGFR2 fibroblast growth factor receptor 2
FLG filaggrin
GRHL3 grainyhead-like 3 (Drosophila)
HR hair growth associated
IGF1R insulin-like growth factor 1 receptor
IL22 interleukin 22
IL36RN interleukin 36 receptor antagonist
IRF6 interferon regulatory factor 6
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB4 integrin, beta 4
JUP junction plakoglobin
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT9 keratin 9, type I
LAMC2 laminin, gamma 2
LBR lamin B receptor
MTA2 metastasis associated 1 family, member 2
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
PKP3 plakophilin 3
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SFN stratifin
SGPP1 sphingosine-1-phosphate phosphatase 1
SHARPIN SHANK-associated RH domain interactor
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
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
TMEM79 transmembrane protein 79
TP63 tumor protein p63
TTC7A tetratricopeptide repeat domain 7A
UROS uroporphyrinogen III synthase
XPA xeroderma pigmentosum, complementation group A