PFN1, profilin 1, 5216

N. diseases: 119; N. variants: 8
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE The PFN1 gene, coding for profilin-1, has recently been associated with familial amyotrophic lateral sclerosis (fALS), as three mutations, namely C71G, M114T, and G118V, have been found in patients with familial forms of the disease and another, E117G, has been proposed to be a moderate risk factor for disease onset. 26226631 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 Biomarker disease BEFREE Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis. 23635659 2013