Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 CausalMutation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 GeneticVariation CLINVAR [Dynamin-1-related infantile spasms: a case report and review of literature]. 27806796

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 CausalMutation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation CLINVAR

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation CLINVAR

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0036572
Disease: Seizures
Seizures 		0.120 CausalMutation CLINVAR

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation CLINVAR

Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR DNM1 encephalopathy: A new disease of vesicle fission. 28667181

2017
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR De novo DNM1 mutations in two cases of epileptic encephalopathy. 26611353

2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651

2014