rs121909342, DCTN1

N. diseases: 5
Disease: Perry Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Perry Syndrome
CUI: C1868594
Disease: Perry Syndrome
0.700 CausalMutation CLINVAR Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation. 27573046 2016
Perry Syndrome
CUI: C1868594
Disease: Perry Syndrome
0.700 CausalMutation CLINVAR The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. 23143281 2013
Perry Syndrome
CUI: C1868594
Disease: Perry Syndrome
0.700 CausalMutation CLINVAR Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration. 19279216 2009
Perry Syndrome
CUI: C1868594
Disease: Perry Syndrome
0.700 CausalMutation CLINVAR Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. 18364389 2008
Perry Syndrome
CUI: C1868594
Disease: Perry Syndrome
0.700 CausalMutation CLINVAR The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. 18094236 2007
Perry Syndrome
CUI: C1868594
Disease: Perry Syndrome
0.700 CausalMutation CLINVAR A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 16505168 2006
Perry Syndrome
CUI: C1868594
Disease: Perry Syndrome
0.700 CausalMutation CLINVAR Mutant dynactin in motor neuron disease. 12627231 2003