DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs398122967, TBC1D24

N. diseases: 12

Disease: Sensorineural hearing loss, bilateral ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Sensorineural hearing loss, bilateral

CUI:	C0452138
Disease:	Sensorineural hearing loss, bilateral

0.700

CausalMutation

CLINVAR

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

25169651

2014

Sensorineural hearing loss, bilateral

CUI:	C0452138
Disease:	Sensorineural hearing loss, bilateral

0.700

CausalMutation

CLINVAR

The genetic basis of DOORS syndrome: an exome-sequencing study.

24291220

2014