Gene: CIZ1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
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: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation 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 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 A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans. 9294229

1997
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007
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: 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: 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: 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: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation 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 A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. 17463283

2007
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Building a fission machine--structural insights into dynamin assembly and activation. 23781021

2013
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: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation 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 De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation 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 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
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