Disease Term Disease ID Gene Symbol References
Erythrokeratodermia variabilis C0265961, 317 KDSR 28575652
GJA1 25398053
GJB3 21188847, 18482034, 21879244, 22393412, 10798362, 22681493, 15948974, 21564177, 26632638, 21950330, 9843209, 10594760, 23442023, 25297803, 21920315, 26251042, 12176042
KRT83 27965375
LORICRIN
TRPM4 30528822
SMIM12
GJB4 23037955, 12648223
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 C4479620 KDSR 28575652
Greither Disease C1851480 GJB3 9843209