DCTN1, dynactin subunit 1, 1639

N. diseases: 116; N. variants: 15
Disease: Parkinsonian Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.440 GeneticVariation group BEFREE A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy. 29499916 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.440 Biomarker group BEFREE Although still rare, DCTN1-related neurodegeneration needs to be considered in a differential diagnosis of parkinsonian disorders, frontotemporal dementia, and motor-neuron diseases, especially if there is family history. 28625595 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.440 Biomarker group BEFREE We sequenced DCTN1 in 636 Caucasian patients with parkinsonism (Parkinson's disease and Parkinson-plus syndromes) and 508 healthy controls. 27132499 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.440 GeneticVariation group BEFREE A novel heterozygous mutation, DCTN1 c.156T>G, encoding p.Phe52Leu, segregates with parkinsonism in a Japanese family. 24676999 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.440 Biomarker group CTD_human DCTN1 mutations in Perry syndrome. 19136952 2009
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.440 Biomarker group HPO