DisGeNET - a database of gene-disease associations

DNM1, dynamin 1, 1759

N. diseases: 114; N. variants: 19

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777860

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs587777861

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs587777862

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs760270633

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

27476654

2016

dbSNP:

rs587777860

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs587777861

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs587777862

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs760270633

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

Large-scale discovery of novel genetic causes of developmental disorders.

25533962

2015

dbSNP:

rs587777860

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

25262651

2014

dbSNP:

rs587777861

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

25262651

2014

dbSNP:

rs587777862

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

25262651

2014

dbSNP:

rs760270633

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

GeneticVariation

UNIPROT

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

25262651

2014

dbSNP:

rs587777860

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777861

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777862

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

CausalMutation

CLINVAR

dbSNP:

rs760270633

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

CausalMutation

CLINVAR

dbSNP:

rs2267958

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs2267958

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C1314691
Disease:

Age at menarche

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3003612

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs1554767313

Entrez Id:	1759;25792
Gene Symbol:	DNM1;CIZ1

DNM1;CIZ1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

DNM1 encephalopathy: A new disease of vesicle fission.

28667181

2017

dbSNP:

rs1554767317

Entrez Id:	1759;25792
Gene Symbol:	DNM1;CIZ1

DNM1;CIZ1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

GeneticVariation

CLINVAR

DNM1 encephalopathy: A new disease of vesicle fission.

28667181

2017

dbSNP:

rs1554767317

Entrez Id:	1759;25792
Gene Symbol:	DNM1;CIZ1

DNM1;CIZ1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

DNM1 encephalopathy: A new disease of vesicle fission.

28667181

2017

dbSNP:

rs1554773487

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

DNM1 encephalopathy: A new disease of vesicle fission.

28667181

2017

dbSNP:

rs1554774587

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

DNM1 encephalopathy: A new disease of vesicle fission.

28667181

2017

dbSNP:

rs1554774587

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.700

CausalMutation

CLINVAR

DNM1 encephalopathy: A new disease of vesicle fission.

28667181

2017