FGF12, fibroblast growth factor 12, 2257

N. diseases: 95; N. variants: 20
Disease: Cerebellar atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease BEFREE Our data demonstrate that gain-of-function FHF mutations can cause neurologic disorder, and expand the repertoire of genetic causes (FHF1) and mechanisms (altered Nav gating) underlying EOEE and cerebellar atrophy. 27164707 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease HPO