Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Predominant and developmentally regulated expression of dynamin in neurons. 1832879

1991
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain. 10074457

1999
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 19502294

2009
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages. 11553700

2001
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247

2011
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650

2009
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649

2004
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. 8290576

1994
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612

2010
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676

2012
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. 11879655

2002
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic. 1674590

1991
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding. 7877694

1995
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR G domain dimerization controls dynamin's assembly-stimulated GTPase activity. 20428113

2010
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis. 1828536

1991