hyperkeratosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. (Human Phenotype Ontology, HP_0000962)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001242
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Genes

70 gene mutations causing the hyperkeratosis 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
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
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
CST6 cystatin E/M
CTSV cathepsin V
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)
ERCC2 excision repair cross-complementation group 2
FLG filaggrin
FOXP3 forkhead box P3
FST follistatin
GBA glucosidase, beta, acid
GJB6 gap junction protein, beta 6, 30kDa
GRHL1 grainyhead-like 1 (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
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAG2 jagged 2
KEAP1 kelch-like ECH-associated protein 1
KLF4 Kruppel-like factor 4 (gut)
KRT1 keratin 1, type II
KRT10 keratin 10, 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
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
PKP3 plakophilin 3
POU3F2 POU class 3 homeobox 2
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTHLH parathyroid hormone-like hormone
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RIPK4 receptor-interacting serine-threonine kinase 4
SAV1 salvador family WW domain containing protein 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCG5 secretogranin V
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)
TBK1 TANK-binding kinase 1
TGM1 transglutaminase 1
TMEM79 transmembrane protein 79
TTC7A tetratricopeptide repeat domain 7A
TWIST2 twist family bHLH transcription factor 2
ZDHHC13 zinc finger, DHHC-type containing 13