DisGeNET - a database of gene-disease associations

TRPV4, transient receptor potential cation channel subfamily V member 4, 59341

N. diseases: 422; N. variants: 56

Disease: Metatropic dwarfism ×

Variant: rs387906906 ×

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:

rs387906906

rs387906906

Entrez Id:	59341
Gene Symbol:	TRPV4

TRPV4

CUI:	C0265281
Disease:

Metatropic dwarfism

A

0.700

CausalMutation

CLINVAR