Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		1.000 GermlineCausalMutation ORPHANET A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus. 24468099

2014
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		1.000 GermlineCausalMutation ORPHANET We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome. 24150202

2014
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		1.000 GermlineCausalMutation ORPHANET The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 22498247

2012
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		1.000 GermlineCausalMutation ORPHANET Review on monogenic diabetes. 21844708

2011