DisGeNET - a database of gene-disease associations

Hematuria, Benign Familial, C0241908

Variant: rs769783985 ×

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:

rs769783985

COL4A4

0.800

GeneticVariation

UNIPROT

Mutations in the COL4A4 gene in thin basement membrane disease.

12631110

2003

dbSNP:

rs769783985

COL4A4

0.800

GeneticVariation

UNIPROT

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

11961012

2002

dbSNP:

rs769783985

COL4A4

0.800

GeneticVariation

UNIPROT

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

8787673

1996

dbSNP:

rs769783985

COL4A4

0.800

CausalMutation

CLINVAR