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

ORPHA122787
Synonym(s)	BIR, Kir6.2, potassium inwardly-rectifying channel, subfamily J, member 11
Previous symbols and names	_
Type	gene with protein product
Chromosomal location	11p15.1

OMIM	600937
HGNC	6257
UniProtKB	Q14654
Genatlas	KCNJ11
Ensembl	ENSG00000187486
IUPHAR-DB	442
Reactome	Q14654

Diseases list

Disease-causing germline mutation(s) in Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Disease-causing germline mutation(s) in Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Disease-causing germline mutation(s) in Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Disease-causing germline mutation(s) in MODY
Disease-causing germline mutation(s) in Permanent neonatal diabetes mellitus
Disease-causing germline mutation(s) in Transient neonatal diabetes mellitus
Disease-causing germline mutation(s) (gain of function) in DEND syndrome
Disease-causing germline mutation(s) (gain of function) in Intermediate DEND syndrome

Assessed

Additional information
- Health care resources for this gene
  - Diagnostic tests (57)
- Research activities on this gene
- Orphanet Reports series
  - Prevalence of rare diseases
  - Orphan drugs in Europe
- Getting involved /informed

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