Erythrokeratodermia variabilis

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ERYTHROKERATODERMIA VARIABILIS
317C0265961MONDO:0017851MESH:D056266
GJA1 Unknown
25398053
Disgenet, GenCC, Orphanet
GJB3 Unknown
10594760 10798362 12176042 15948974 18482034 20497287 21188847 21564177 21879244 21920315 21950330 22393412 22681493 23442023 25297803 25556823 26251042 26632638 31793497 31912549 35663771 35677558 9843209
CTD, ClinGen, ClinVar, Disgenet, Orphanet
GJB4 Unknown
23037955
Disgenet, GWAS catalog, Orphanet
KDSR Unknown
28575652
Disgenet, GWAS catalog, Orphanet
KRT83 Unknown
27965375
CTD, Disgenet
PERP Unknown — Disgenet
TRPM4 Unknown
30528822
Disgenet
ERYTHROKERATODERMIA VARIABILIS 3
C1836330MESH:C563739
AP1B1 Unknown — Disgenet
AP1S1 Unknown
23423674
CTD, Disgenet
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
C4551486
GJB4 Unknown — Disgenet
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
617756C4540331MONDO:0033015
KRT83 Unknown — ClinVar, Disgenet, HPO
All10 Causal7 Unknown9
Related Diseases Diseases that share the most curated genes with Erythrokeratodermia variabilis.
5 View disease cluster →
Greither disease 4 shared genesGJA1, GJB3, PERP, GJB4 Related via 4 shared genes including GJA1, GJB3, PERP. Palmoplantar keratoderma with congenital alopecia 1 shared geneGJA1 Related via 1 shared gene including GJA1. mednik syndrome 1 shared geneAP1S1 Related via 1 shared gene including AP1S1. Peripheral neuropathy with sensorineural hearing impairment syndrome 1 shared geneGJB3 Related via 1 shared gene including GJB3. ichthyosiform erythroderma, corneal involvement, and hearing loss 1 shared geneAP1B1 Related via 1 shared gene including AP1B1.