Disease Term Disease ID Gene Symbol Classification References Source
Parkinsonism-Dystonia, Infantile C2751067 SLC6A3 Causal Pathogenic evidence from ClinVar 27555326 ClinVar
PARKINSONISM-DYSTONIA, INFANTILE, 1 C4747621 SLC6A3 Causal Pathogenic evidence from ClinVar 19478460, 21112253, 22279524, 24613933 ClinVar
PARKINSONISM-DYSTONIA, INFANTILE, 2 C4747991 SLC18A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23363473 -