Erythrokeratodermia Variabilis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_0050467)
External Link https://www.disgenet.org/browser/0/1/0/C0265961
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Genes

16 genes associated with the disease Erythrokeratodermia Variabilis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CCS copper chaperone for superoxide dismutase
ELOVL4 ELOVL fatty acid elongase 4
FAM111B family with sequence similarity 111, member B
GJA1 gap junction protein, alpha 1, 43kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
HSPA4 heat shock 70kDa protein 4
IL17A interleukin 17A
KDSR 3-ketodihydrosphingosine reductase
KRT83 keratin 83, type II
LOR loricrin
LOXL2 lysyl oxidase-like 2
SMIM12 small integral membrane protein 12
TRPM4 transient receptor potential cation channel, subfamily M, member 4