Myoclonic dystonia

Disease Term Disease ID Gene Symbol Classification References Source
DYSTONIA 26, MYOCLONIC C4225341 KCTD17 Causal Pathogenic evidence from ClinVar 25983243 ClinVar
Myoclonic dystonia C1834570 KCTD17 Causal Pathogenic evidence from ClinVar 25983243 ClinVar
SGCE Causal Pathogenic evidence from ClinVar 11022010, 11528394, 12325078, 12402271, 15079037, 15258227, 15728306, 16227522, 17296918, 17853490, 18175340, 18205193, 18355305, 18362280, 19066193, 19117362, 21796726, 22259621, 22626943, 23677909, 29607243 ClinVar
DRD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DYT15 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TOR1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -