DisGeNET - a database of gene-disease associations

EPILEPSY, PROGRESSIVE MYOCLONIC, 8, C4015619

Variant: rs200024180 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs200024180

rs200024180

GDF1 ; CERS1

0.800

GeneticVariation

UNIPROT

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

2014

dbSNP:

rs200024180

rs200024180

GDF1 ; CERS1

C

0.800

CausalMutation

CLINVAR