DisGeNET - a database of gene-disease associations

DEAFNESS, AUTOSOMAL DOMINANT 65, C3892048

Variant: rs747538224 ×

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:

rs747538224

TBC1D24

0.700

CausalMutation

CLINVAR

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

29100083

2017

dbSNP:

rs747538224

TBC1D24

0.700

CausalMutation

CLINVAR

Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

27502353

2016