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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. 21926968

2011
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Predominant and developmentally regulated expression of dynamin in neurons. 1832879

1991
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The crystal structure of dynamin. 21927001

2011