Source: ALL
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 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
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 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 Dominant-negative inhibition of receptor-mediated endocytosis by a dynamin-1 mutant with a defective pleckstrin homology domain. 10074457

1999
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. 14985377

2004
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic. 1674590

1991
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 SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247

2011
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649

2004
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages. 11553700

2001
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 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 Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. 22099461

2011
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 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 Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. 8290576

1994
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Mitochondrial fusion and fission in cell life and death. 21102612

2010
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 19502294

2009
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007
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: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650

2009
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: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. 7962076

1994
dbSNP: rs1554767313
rs1554767313
DNM1 ; CIZ1
A 0.700 CausalMutation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
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