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 ×

Variant: rs1564865302 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1564865302

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C4225365
Disease:

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

0.700

GeneticVariation

CLINVAR

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.

27033559

2016

dbSNP:

rs1564865302

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C4225365
Disease:

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

0.700

GeneticVariation

CLINVAR

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

22701567

2012

dbSNP:

rs1564865302

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C4225365
Disease:

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

0.700

GeneticVariation

CLINVAR

Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene.

21210267

2011

dbSNP:

rs1564865302

Entrez Id:	3767
Gene Symbol:	KCNJ11

KCNJ11

CUI:	C4225365
Disease:

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13

0.700

GeneticVariation

CLINVAR

Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.

21054355

2011