DisGeNET - a database of gene-disease associations

Hypophosphatemic Rickets, X-Linked Recessive, C1845168

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:

rs151340626

rs151340626

CLCN5

0.800

GeneticVariation

UNIPROT

Heterogeneity in the processing of CLCN5 mutants related to Dent disease.

2011

dbSNP:

rs151340626

rs151340626

CLCN5

0.800

GeneticVariation

UNIPROT

A common molecular basis for three inherited kidney stone diseases.

1996

dbSNP:

rs151340626

rs151340626

CLCN5

T

0.800

CausalMutation

CLINVAR