Erythrokeratodermia variabilis

Disease Term Disease ID Gene Symbol Classification References Source
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
133200C4551486MONDO:0033010
GJB3 Causal — ClinVar Disgenet GenCC HPO
NIPAL4 Causal — Disgenet
GJB4 Unknown — Disgenet
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
617524C4479618MONDO:0033012
GJB4 Causal — ClinVar Disgenet GenCC HPO
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
617525C4479619MONDO:0033013
GJA1 Causal — ClinVar Disgenet GenCC HPO
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
617526C4479620MONDO:0033014
KDSR Causal
15328338 28575652 28774589 30467204 31987885
CTD ClinGen ClinVar Disgenet HPO
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
617756C4540331MONDO:0033015
KRT83 Unknown — ClinVar Disgenet HPO
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6
618531C5193144MONDO:0032801
TRPM4 Causal
30528822
CTD ClinVar Disgenet HPO
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7
619209C5543106MONDO:0030941
PERP Causal
30321533 31898316 34863005 37510397
ClinVar Disgenet GWAS catalog HPO