Disease Term Disease ID Gene Symbol Classification References Source
Alternating hemiplegia of childhood 2131, C0338488 ATP1A2 Causal Pathogenic evidence from ClinVar 15286158 ClinVar
ATP1A3 Causal Pathogenic evidence from ClinVar 22842232, 22850527, 24631656 ClinVar
CACNA1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18498393 -
SLC1A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 C3549447 ATP1A2 Causal Pathogenic evidence from ClinVar 12539047, 12953268, 15174025, 18056581 ClinVar
ATP1A3 Causal Pathogenic evidence from ClinVar 22842232 ClinVar
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 C3553788 ATP1A3 Causal Pathogenic evidence from ClinVar 15260953, 22842232, 22850527, 23409136, 24631656, 25447930, 26400718, 26633545, 26938784, 26993267, 27268479, 27634470, 27726050 ClinVar