PFN1, profilin 1, 5216

N. diseases: 119; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
0.010 GeneticVariation phenotype BEFREE Although profilin 1 C71G was only expressed during development, adult mice presented with some ALS-associated pathology and motor symptoms. 31611772 2019