Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.400 Biomarker GENOMICS_ENGLAND Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204

2020