PFN1, profilin 1, 5216

N. diseases: 119; N. variants: 8
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.700 GeneticVariation disease UNIPROT Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. 22801503 2012
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. 22801503 2012
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.700 Biomarker disease CTD_human
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.700 CausalMutation disease CLINVAR