Gene: CIZ1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals. 7877693

1995
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR A class of dynamin-like GTPases involved in the generation of the tubular ER network. 19665976

2009
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 15731758

2005
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442

2010
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR The crystal structure of dynamin. 21927001

2011
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283

2007
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis. 8360266

1993
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila. 6304244

1983
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Cell- and stimulus-dependent heterogeneity of synaptic vesicle endocytic recycling mechanisms revealed by studies of dynamin 1-null neurons. 18250322

2008
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. 11879655

2002
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 19502294

2009
dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Multiple forms of dynamin are encoded by shibire, a Drosophila gene involved in endocytosis. 1828536

1991
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. 8290576

1994
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis. 8360266

1993
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages. 11553700

2001
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR The crystal structure of dynamin. 21927001

2011
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649

2004
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. 7962076

1994
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. 11879655

2002
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612

2010
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017