DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria ×

Gene: UMOD ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1835934
Disease:	Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

0.700

Biomarker

GENOMICS_ENGLAND

A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.

15983957

2005