| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | DNM1 encephalopathy: A new disease of vesicle fission. | 28667181 | 2017 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. | 26648591 | 2016 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | De novo DNM1 mutations in two cases of epileptic encephalopathy. | 26611353 | 2016 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. | 25262651 | 2014 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. | 23092955 | 2013 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Building a fission machine--structural insights into dynamin assembly and activation. | 23781021 | 2013 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Dynamin, a membrane-remodelling GTPase. | 22233676 | 2012 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Recruitment of endophilin to clathrin-coated pit necks is required for efficient vesicle uncoating after fission. | 22099461 | 2011 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. | 21441247 | 2011 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | The crystal structure of dynamin. | 21927001 | 2011 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Proper synaptic vesicle formation and neuronal network activity critically rely on syndapin I. | 21926968 | 2011 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. | 20700442 | 2010 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Mitochondrial fusion and fission in cell life and death. | 21102612 | 2010 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | G domain dimerization controls dynamin's assembly-stimulated GTPase activity. | 20428113 | 2010 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. | 19633650 | 2009 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. | 19502294 | 2009 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | A class of dynamin-like GTPases involved in the generation of the tubular ER network. | 19665976 | 2009 | |||||
Dysmorphic features
|
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 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | A lethal defect of mitochondrial and peroxisomal fission. | 17460227 | 2007 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. | 17463283 | 2007 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. | 15731758 | 2005 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. | 14985377 | 2004 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | OPA1 requires mitofusin 1 to promote mitochondrial fusion. | 15509649 | 2004 | |||||
Dysmorphic features
|
0.700 | GeneticVariation | CLINVAR | Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. | 12509422 | 2003 |