Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

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

2014

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955

2013

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013

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

2012

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. 22099461

2011

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. 21926968

2011

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247

2011

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR The crystal structure of dynamin. 21927001

2011

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442

2010

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

2010

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

2010

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR A class of dynamin-like GTPases involved in the generation of the tubular ER network. 19665976

2009

dbSNP: rs1554774587
rs1554774587
A 0.700 CausalMutation CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650

2009

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

2009

dbSNP: rs1554774587
rs1554774587
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
A 0.700 CausalMutation CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007

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

2007

dbSNP: rs1554774587
rs1554774587
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
A 0.700 CausalMutation CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649

2004

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

2004

dbSNP: rs1554774587
rs1554774587
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