Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease 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
0.100 GeneticVariation disease CLINVAR Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals. 7877693 1995
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247 2011
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR The crystal structure of dynamin. 21927001 2011
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR G domain dimerization controls dynamin's assembly-stimulated GTPase activity. 20428113 2010
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353 2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. 7962076 1994
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans. 9294229 1997
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676 2012
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis. 8360266 1993
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 19502294 2009
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649 2004
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. 11879655 2002
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease 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
0.100 GeneticVariation disease CLINVAR Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. 8290576 1994
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650 2009
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612 2010
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease 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
0.100 GeneticVariation disease CLINVAR Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain. 10074457 1999
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021 2013
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227 2007
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.100 GeneticVariation disease 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
0.100 GeneticVariation disease CLINVAR Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila. 6304244 1983