Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 19502294

2009
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 15731758

2005
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons. 18250322

2008
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676

2012
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis. 8360266

1993
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. 12509422

2003
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283

2007
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR G domain dimerization controls dynamin's assembly-stimulated GTPase activity. 20428113

2010
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis. 1828536

1991
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612

2010
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. 14985377

2004