abnormal epidermis stratum granulosum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis (Mammalian Phenotype Ontology, MP_0001239)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001239
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Genes

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

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
AHR aryl hydrocarbon receptor
ALOX12B arachidonate 12-lipoxygenase, 12R type
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
CD44 CD44 molecule (Indian blood group)
CDSN corneodesmosin
CERS3 ceramide synthase 3
CHUK conserved helix-loop-helix ubiquitous kinase
CRH corticotropin releasing hormone
CTSV cathepsin V
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DGAT2 diacylglycerol O-acyltransferase 2
DKC1 dyskeratosis congenita 1, dyskerin
DSG3 desmoglein 3
EGFR epidermal growth factor receptor
ELOVL1 ELOVL fatty acid elongase 1
ELOVL3 ELOVL fatty acid elongase 3
ERCC2 excision repair cross-complementation group 2
FGFR2 fibroblast growth factor receptor 2
FLG filaggrin
FOXN1 forkhead box N1
GAB1 GRB2-associated binding protein 1
GJA1 gap junction protein, alpha 1, 43kDa
GRHL3 grainyhead-like 3 (Drosophila)
HR hair growth associated
IRF6 interferon regulatory factor 6
JUP junction plakoglobin
KLF4 Kruppel-like factor 4 (gut)
KRT10 keratin 10, type I
KRT9 keratin 9, type I
LBR lamin B receptor
LMNA lamin A/C
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
PPARA peroxisome proliferator-activated receptor alpha
RARG retinoic acid receptor, gamma
SAV1 salvador family WW domain containing protein 1
SFN stratifin
SGPP1 sphingosine-1-phosphate phosphatase 1
SHARPIN SHANK-associated RH domain interactor
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
TP63 tumor protein p63
TTC7A tetratricopeptide repeat domain 7A
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor