Disease Term Disease ID Gene Symbol Classification References Source
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 C4551552 ATP8A2 Causal Pathogenic evidence from ClinVar - ClinVar
VLDLR Causal Pathogenic evidence from ClinVar 16080122, 18326629, 18364738 ClinVar
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 C3808977 ATP8A2 Causal Pathogenic evidence from ClinVar 22892528, 29531481 ClinVar
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 C2750509 CA8 Causal Pathogenic evidence from ClinVar 19461874, 21885617, 21937992 ClinVar
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 C2750234 WDR81 Causal Pathogenic evidence from ClinVar 21885617, 26437881, 28961333 ClinVar