Disease Term Disease ID Gene Symbol Classification References Source
Benign hereditary chorea 1429 NKX2-1 Causal Pathogenic evidence from ClinVar - ClinVar
ADCY5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Benign Hereditary Chorea C0393584 NKX2-1 Causal Pathogenic evidence from ClinVar 11854319, 11971878, 12196653, 12891678, 15289765, 15955952, 16220345, 24453141, 26723978 ClinVar
ADCY5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26085604 -
CACNA2D2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14660671 -