DisGeNET - a database of gene-disease associations

KCNJ11, potassium inwardly rectifying channel subfamily J member 11, 3767

N. diseases: 218; N. variants: 80

Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs587783672

0.882

0.080

17387413

missense variant

C/T

snv

4.0E-06

CUI:	C4225365
Disease:	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

0.810

1.000

2012

2017

dbSNP:

rs1564865302

0.925

0.040

17387395

missense variant

G/A

snv

CUI:	C4225365
Disease:	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

0.700

1.000

2011

2016

dbSNP:

rs1554901596

0.925

0.080

17387124

frameshift variant

-/C

delins

CUI:	C4225365
Disease:	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

0.700

dbSNP:

rs267607196

0.827

0.160

17387248

missense variant

C/T

snv

2.4E-05

2.8E-05

CUI:	C4225365
Disease:	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

0.700

dbSNP:

rs80356610

0.827

0.080

17387968

missense variant

A/G

snv

CUI:	C4225365
Disease:	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

0.700