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 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 Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. 12509422

2003
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 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
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 Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 15731758

2005
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 Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. 8290576

1994
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 G domain dimerization controls dynamin's assembly-stimulated GTPase activity. 20428113

2010
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 The crystal structure of dynamin. 21927001

2011
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
A 0.700 GeneticVariation CLINVAR Dynamin, a membrane-remodelling GTPase. 22233676

2012