DisGeNET - a database of gene-disease associations

Hypoparathyroidism - autosomal dominant, C0342345

Variant: rs794729230 ×

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:

rs794729230

CASR

0.700

GeneticVariation

CLINVAR

Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.

24297799

2014

dbSNP:

rs794729230

CASR

0.700

GeneticVariation

CLINVAR

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey.

21645025

2011

dbSNP:

rs794729230

CASR

0.700

GeneticVariation

CLINVAR

Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?

11134112

2000