abnormal keratinocyte morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum (Mammalian Phenotype Ontology, MP_0002655)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002655
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Genes

45 gene mutations causing the abnormal keratinocyte morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABHD5 abhydrolase domain containing 5
BDNF brain-derived neurotrophic factor
CBS cystathionine-beta-synthase
CDC42 cell division cycle 42
CHUK conserved helix-loop-helix ubiquitous kinase
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DSC1 desmocollin 1
FGFR2 fibroblast growth factor receptor 2
GRHL3 grainyhead-like 3 (Drosophila)
HR hair growth associated
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
ILK integrin-linked kinase
IRF6 interferon regulatory factor 6
ITGB4 integrin, beta 4
ITGB5 integrin, beta 5
KDF1 keratinocyte differentiation factor 1
KRT14 keratin 14, type I
KRT6B keratin 6B, type II
KRT9 keratin 9, type I
LMNA lamin A/C
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPK8 mitogen-activated protein kinase 8
MAPK9 mitogen-activated protein kinase 9
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
PLCD1 phospholipase C, delta 1
PLEC plectin
POU2F3 POU class 2 homeobox 3
PPARA peroxisome proliferator-activated receptor alpha
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RARG retinoic acid receptor, gamma
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
RGN regucalcin
RIPK4 receptor-interacting serine-threonine kinase 4
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
RXRA retinoid X receptor, alpha
SAV1 salvador family WW domain containing protein 1
SFN stratifin
SGPP1 sphingosine-1-phosphate phosphatase 1
ST14 suppression of tumorigenicity 14 (colon carcinoma)
SYNE2 spectrin repeat containing, nuclear envelope 2
TP63 tumor protein p63
TTC7A tetratricopeptide repeat domain 7A