Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5216
Gene Symbol: PFN1
PFN1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.500 GermlineCausalMutation ORPHANET In this study, we investigated the mutation spectrum of PFN1 in Chinese patients with ALS. 23428184

2013

Entrez Id: 5216
Gene Symbol: PFN1
PFN1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.500 GermlineCausalMutation ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347

2013

Entrez Id: 5216
Gene Symbol: PFN1
PFN1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.500 GermlineCausalMutation ORPHANET Cells expressing PFN1 mutants contain ubiquitinated, insoluble aggregates that in many cases contain the ALS-associated protein TDP-43. 22801503

2012