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 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: 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 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans. 9294229

1997
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955

2013
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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 CausalMutation CLINVAR Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals. 7877693

1995
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 CausalMutation 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 CausalMutation 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 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 CausalMutation CLINVAR Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis. 1828536

1991
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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 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 CausalMutation 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 CausalMutation CLINVAR A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis. 8360266

1993
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 CausalMutation CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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 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 CausalMutation 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 CausalMutation CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650

2009