DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
Disease: Frontotemporal dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.130 GeneticVariation disease BEFREE Mutations in the Dynactin 1 (DCTN1) gene have been demonstrated to result in various neurodegenerative diseases, including distal hereditary motor neuropathy type 7B (dHMN7B), Perry syndrome, amyotrophic lateral sclerosis and amyotrophic lateral sclerosis‑frontotemporal dementia. 27573046 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.130 Biomarker disease BEFREE Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 17824900 2007
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.130 GeneticVariation disease BEFREE The R1101K sequence alteration of the DCTN1 gene may predispose subjects to ALS and FTD. 16240349 2005
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.130 Biomarker disease HPO