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 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 CausalMutation 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 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 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-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-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 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 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 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 Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. 7962076

1994
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 CausalMutation 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 Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. 7962076

1994
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 CausalMutation 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 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 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 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 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 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 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 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 Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. 11879655

2002