DisGeNET - a database of gene-disease associations

ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE, C4746745

Variant: rs773081522 ×

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:

rs773081522

COL4A4

0.700

GeneticVariation

CLINVAR

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

27281700

2016

dbSNP:

rs773081522

COL4A4

0.700

GeneticVariation

CLINVAR

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

25307543

2015

dbSNP:

rs773081522

COL4A4

0.700

GeneticVariation

CLINVAR

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

9792860

1998