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 CausalMutation phenotype CLINVAR Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding. 7877694 1995
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 CausalMutation phenotype CLINVAR Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. 7962076 1994
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 CausalMutation phenotype CLINVAR Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic. 1674590 1991
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353 2016
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype 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 phenotype CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650 2009
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649 2004
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 CausalMutation phenotype CLINVAR Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. 12509422 2003
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 CausalMutation phenotype 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 phenotype CLINVAR Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. 8290576 1994
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 CausalMutation phenotype 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 phenotype CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612 2010
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 CausalMutation phenotype CLINVAR The crystal structure of dynamin. 21927001 2011
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676 2012
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 CausalMutation phenotype CLINVAR Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila. 6304244 1983
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype 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 phenotype CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021 2013
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype 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 phenotype CLINVAR Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. 11879655 2002
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype CLINVAR Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic. 1674590 1991
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype CLINVAR Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding. 7877694 1995
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype CLINVAR G domain dimerization controls dynamin's assembly-stimulated GTPase activity. 20428113 2010
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 GeneticVariation phenotype CLINVAR Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis. 1828536 1991
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.100 CausalMutation phenotype CLINVAR Predominant and developmentally regulated expression of dynamin in neurons. 1832879 1991