DisGeNET - a database of gene-disease associations

rs188942711, COL4A3;MFF-DT

N. diseases: 9

Disease: Kidney Failure, Chronic ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Kidney Failure, Chronic

CUI:	C0022661
Disease:	Kidney Failure, Chronic

0.010

GeneticVariation

BEFREE

Our results offer more evidence that in patients with FH, NPHS2-R229Q predisposes to proteinuria and ESKD.

2012