abnormal epidermis stratum corneum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the outer layer of the epidermis, consisting of several layers of flat keratinized non-nucleated cells (Mammalian Phenotype Ontology, MP_0001240)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001240
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Genes

102 gene mutations causing the abnormal epidermis stratum corneum 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
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ASS1 argininosuccinate synthase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BRCA2 breast cancer 2, early onset
CASP14 caspase 14, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CDC42 cell division cycle 42
CDSN corneodesmosin
CERS3 ceramide synthase 3
CHUK conserved helix-loop-helix ubiquitous kinase
CLDN1 claudin 1
CRH corticotropin releasing hormone
CST6 cystatin E/M
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
DSC1 desmocollin 1
DSG4 desmoglein 4
EBP emopamil binding protein (sterol isomerase)
EGFR epidermal growth factor receptor
ELOVL3 ELOVL fatty acid elongase 3
ELOVL4 ELOVL fatty acid elongase 4
ERCC2 excision repair cross-complementation group 2
EVPL envoplakin
FGFR2 fibroblast growth factor receptor 2
FLG filaggrin
FOXN1 forkhead box N1
FOXP3 forkhead box P3
FST follistatin
GBA glucosidase, beta, acid
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GRHL1 grainyhead-like 1 (Drosophila)
GRHL3 grainyhead-like 3 (Drosophila)
HELLS helicase, lymphoid-specific
HR hair growth associated
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RN interleukin 1 receptor antagonist
IL36RN interleukin 36 receptor antagonist
IRF6 interferon regulatory factor 6
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAG2 jagged 2
JUP junction plakoglobin
KDF1 keratinocyte differentiation factor 1
KEAP1 kelch-like ECH-associated protein 1
KLF4 Kruppel-like factor 4 (gut)
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT76 keratin 76, type II
KRT9 keratin 9, type I
LAMC2 laminin, gamma 2
LBR lamin B receptor
LMNA lamin A/C
LOR loricrin
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
MTA2 metastasis associated 1 family, member 2
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
NSDHL NAD(P) dependent steroid dehydrogenase-like
PBK PDZ binding kinase
PKP3 plakophilin 3
POU3F2 POU class 3 homeobox 2
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRSS8 protease, serine, 8
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTHLH parathyroid hormone-like hormone
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARG retinoic acid receptor, gamma
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RIPK4 receptor-interacting serine-threonine kinase 4
RXRA retinoid X receptor, alpha
SAV1 salvador family WW domain containing protein 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCG5 secretogranin V
SFN stratifin
SGPP1 sphingosine-1-phosphate phosphatase 1
SHARPIN SHANK-associated RH domain interactor
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
TBK1 TANK-binding kinase 1
TGM1 transglutaminase 1
TMEM79 transmembrane protein 79
TP63 tumor protein p63
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TTC7A tetratricopeptide repeat domain 7A
TWIST2 twist family bHLH transcription factor 2
ZDHHC13 zinc finger, DHHC-type containing 13