DisGeNET - a database of gene-disease associations

DNM1, dynamin 1, 1759

N. diseases: 114; N. variants: 19

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 ×

Variant: rs587777860 ×

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:

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:

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:

rs587777860

Entrez Id:	1759
Gene Symbol:	DNM1

DNM1

CUI:	C4225357
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31

0.800

CausalMutation

CLINVAR