DisGeNET - a database of gene-disease associations

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY, C4539968

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1553247020

rs1553247020

PBX1

1

1.000

1

164792640

frameshift variant

GGGCAGG/-

delins

0.700

dbSNP:

rs1553247028

rs1553247028

PBX1

1

1.000

1

164792655

frameshift variant

A/-

delins

0.700

dbSNP:

rs1553248075

rs1553248075

PBX1

1

1.000

1

164799697

splice acceptor variant

A/G

snv

0.700

dbSNP:

rs1553248112

rs1553248112

PBX1

1

1.000

1

164799889

missense variant

G/A;C

snv

0.700

dbSNP:

rs1558020021

rs1558020021

PBX1

1

1.000

1

164807658

missense variant

G/A

snv

0.700