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 DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
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 GeneticVariation 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 GeneticVariation 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 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 GeneticVariation 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 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 CausalMutation 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 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 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 CausalMutation CLINVAR A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283

2007
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283

2007
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 CausalMutation 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 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 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 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 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 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 CausalMutation 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 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 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 Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain. 10074457

1999