Ataxia-oculomotor apraxia

Disease Term Disease ID Gene Symbol Classification References Source
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA C1859598 APTX Causal Pathogenic evidence from ClinVar 11176957, 11586299, 11586300, 12196655, 12629250, 14506070, 15699391, 15790557, 15852392, 17242337, 21465257, 24362567, 24896178, 27604308, 28652255 ClinVar
PNKP Causal Pathogenic evidence from ClinVar - ClinVar
MRE11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10612394 -
Ataxia-oculomotor apraxia type 1 1168 APTX Causal Pathogenic evidence from ClinVar - ClinVar
ATAXIA-OCULOMOTOR APRAXIA 4 C4225397 PNKP Causal Pathogenic evidence from ClinVar 25728773, 30039206 ClinVar
Ataxia-oculomotor apraxia type 4 459033 PNKP Causal Pathogenic evidence from ClinVar - ClinVar
ATAXIA-OCULOMOTOR APRAXIA 3 C3554690 PIK3R5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22065524 -