DisGeNET - a database of gene-disease associations

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

N. diseases: 50; N. variants: 65

Disease: Maturity onset diabetes mellitus in young ×

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0342276
Disease:	Maturity onset diabetes mellitus in young

Maturity onset diabetes mellitus in young

0.660

GermlineCausalMutation

disease

ORPHANET

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

22701567

2012

CUI:	C0342276
Disease:	Maturity onset diabetes mellitus in young

Maturity onset diabetes mellitus in young

0.660

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C0342276
Disease:	Maturity onset diabetes mellitus in young

Maturity onset diabetes mellitus in young

0.660

Biomarker

disease

GENOMICS_ENGLAND