parakeratosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. (Human Phenotype Ontology, HP_0001036)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003427
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Genes

22 gene mutations causing the parakeratosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
CDSN corneodesmosin
CHUK conserved helix-loop-helix ubiquitous kinase
DSC1 desmocollin 1
DSG4 desmoglein 4
FOXP3 forkhead box P3
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RN interleukin 1 receptor antagonist
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
JAG2 jagged 2
KLF4 Kruppel-like factor 4 (gut)
KRT76 keratin 76, type II
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
PKP3 plakophilin 3
RIPK4 receptor-interacting serine-threonine kinase 4
SAV1 salvador family WW domain containing protein 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SHARPIN SHANK-associated RH domain interactor
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SPINK5 serine peptidase inhibitor, Kazal type 5
TTC7A tetratricopeptide repeat domain 7A