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KCNJ11 - potassium inwardly rectifying channel subfamily J member 11
- Synonym(s) : ATP-sensitive inward rectifier potassium channel 11, beta-cell inward rectifier, BIR, Kir6.2
- Previous symbols and names : potassium inwardly-rectifying channel, subfamily J, member 11
- Type : gene with protein product
- Chromosomal location : 11p15.1
- OMIM: 600937
- HGNC: 6257
- UniProtKB: Q14654
- Genatlas: KCNJ11
- GenCC: KCNJ11
- Ensembl: ENSG00000187486
- IUPHAR-DB: 442
- Reactome: Q14654
- LOVD: KCNJ11
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
ORPHA:276580 
- Disease-causing germline mutation(s) in Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
ORPHA:79644 - Disease-causing germline mutation(s) in Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
ORPHA:276603 - Disease-causing germline mutation(s) in Isolated permanent neonatal diabetes mellitus
ORPHA:99885 - Disease-causing germline mutation(s) in MODY
ORPHA:552 - Disease-causing germline mutation(s) in Transient neonatal diabetes mellitus
ORPHA:99886 - Disease-causing germline mutation(s) (gain of function) in DEND syndrome
ORPHA:79134 - Disease-causing germline mutation(s) (gain of function) in Intermediate DEND syndrome
ORPHA:99989
: AssessedAdditional information
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