Gene: CIZ1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals. 7877693

1995
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 Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. 22099461

2011
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 Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila. 6304244

1983
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. 14985377

2004
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. 21926968

2011
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Predominant and developmentally regulated expression of dynamin in neurons. 1832879

1991
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR G domain dimerization controls dynamin's assembly-stimulated GTPase activity. 20428113

2010
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442

2010
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 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955

2013
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 De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650

2009
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic. 1674590

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 A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007
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 A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans. 9294229

1997
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283

2007
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. 7962076

1994