DisGeNET - a database of gene-disease associations

rs188942711, COL4A3;MFF-DT

N. diseases: 9

Disease: Familial hematuria ×

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

Familial hematuria

CUI:	C1305904
Disease:	Familial hematuria

0.010

GeneticVariation

BEFREE

NPHS2-R229Q was screened in a Cypriot FH cohort.

2012