Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.200 GeneticVariation CLINVAR Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020