Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.310 Biomarker GENOMICS_ENGLAND FAHN/SPG35 manifests with early childhood onset predominantly lower limb spastic tetraparesis and truncal instability, dysarthria, dysphagia, cerebellar ataxia, and cognitive deficits, often accompanied by exotropia and movement disorders. 31135052

2019
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.310 Biomarker BEFREE One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment, axial T2-FLAIR weighted MRI posterior periventricular white matter lesions. 24299421

2013