Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. 22099461

2011
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. 11879655

2002
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. 21926968

2011
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Predominant and developmentally regulated expression of dynamin in neurons. 1832879

1991
dbSNP: rs1554774587
rs1554774587
DNM1
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: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Possible temperature-dependent blockage of synaptic vesicle recycling induced by a single gene mutation in Drosophila. 6304244

1983
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR OPA1 requires mitofusin 1 to promote mitochondrial fusion. 15509649

2004
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. 21441247

2011
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Dynamin GTPase domain mutants block endocytic vesicle formation at morphologically distinct stages. 11553700

2001
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Tubular membrane invaginations coated by dynamin rings are induced by GTP-gamma S in nerve terminals. 7877693

1995
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR The crystal structure of dynamin. 21927001

2011
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR A class of dynamin-like GTPases involved in the generation of the tubular ER network. 19665976

2009
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR A lethal defect of mitochondrial and peroxisomal fission. 17460227

2007
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Induction of mutant dynamin specifically blocks endocytic coated vesicle formation. 7962076

1994
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. 8290576

1994
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 23092955

2013
dbSNP: rs1554774587
rs1554774587
DNM1
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: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding. 7877694

1995
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. 19633650

2009
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic. 1674590

1991
dbSNP: rs1554774587
rs1554774587
DNM1
A 0.700 CausalMutation CLINVAR A dynamin GTPase mutation causes a rapid and reversible temperature-inducible locomotion defect in C. elegans. 9294229

1997