DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, C3809173

Variant: rs376712059 ×

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:

rs376712059

TBC1D24

0.700

GeneticVariation

CLINVAR

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

28292732

2017

dbSNP:

rs376712059

TBC1D24

0.700

GeneticVariation

CLINVAR

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

28428906

2017

dbSNP:

rs376712059

TBC1D24

0.700

GeneticVariation

CLINVAR

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

25769375

2015