Gene: CIZ1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181 2017
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353 2016
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955 2013
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021 2013
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676 2012
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. 22099461 2011
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. 21926968 2011
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247 2011
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR The crystal structure of dynamin. 21927001 2011
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR G domain dimerization controls dynamin's assembly-stimulated GTPase activity. 20428113 2010
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		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: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612 2010
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 19502294 2009
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650 2009
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR A class of dynamin-like GTPases involved in the generation of the tubular ER network. 19665976 2009
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		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: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283 2007
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227 2007
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		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: 25792
Gene Symbol: CIZ1
CIZ1 		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: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649 2004
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation disease CLINVAR Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. 12509422 2003