Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442

2010

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR G domain dimerization controls dynamin's assembly-stimulated GTPase activity. 20428113

2010

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612

2010

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442

2010

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612

2010

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650

2009

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 19502294

2009

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 19502294

2009

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650

2009

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR A class of dynamin-like GTPases involved in the generation of the tubular ER network. 19665976

2009

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR A class of dynamin-like GTPases involved in the generation of the tubular ER network. 19665976

2009

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons. 18250322

2008

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons. 18250322

2008

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283

2007

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283

2007

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 15731758

2005

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 15731758

2005

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. 14985377

2004

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649

2004

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649

2004

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. 14985377

2004

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 CausalMutation CLINVAR Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. 12509422

2003

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.100 GeneticVariation CLINVAR Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. 12509422

2003