DisGeNET - a database of gene-disease associations

TRPV6, transient receptor potential cation channel subfamily V member 6, 55503

N. diseases: 82; N. variants: 7

Disease: Transient neonatal hyperparathyroidism ×

Variant: rs759393722 ×

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:

rs759393722

Entrez Id:	55503
Gene Symbol:	TRPV6

TRPV6

CUI:	C1300287
Disease:

Transient neonatal hyperparathyroidism

0.700

GeneticVariation

CLINVAR

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

29861107

2018