DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
Disease: Amyotrophic Lateral Sclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909344
rs121909344
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Heterozygous missense mutations of the DCTN1 gene were detected in one apparently sporadic case of ALS (T1249I), one individual with familial ALS (M571T), two patients with familial ALS, and two unaffected relatives in the same kindred (R785W). 15326253 2004