Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0013421
Disease: Dystonia
Dystonia
0.430 Biomarker GENOMICS_ENGLAND Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene. 19068277

2008

Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0013421
Disease: Dystonia
Dystonia
0.430 Biomarker GENOMICS_ENGLAND Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revealed inactivating mutations in the FA2H gene. 19068277

2008