Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis. 27066543

2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1. 25779878

2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy. 26125563

2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442

2010
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.300 Biomarker CLINGEN Mutations in human dynamin block an intermediate stage in coated vesicle formation. 8101525

1993