DisGeNET - a database of gene-disease associations

Hyperuricemic Nephropathy, Familial Juvenile 1, C4551496

Variant: rs886043751 ×

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:

rs886043751

rs886043751

UMOD

0.710

GeneticVariation

BEFREE

The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.

2007

dbSNP:

rs886043751

rs886043751

UMOD

0.710

GeneticVariation

UNIPROT