Disease: K ATP Permanent Neonatal Diabetes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356611
rs80356611
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C4321446
Disease:
K ATP Permanent Neonatal Diabetes 		0.010 GeneticVariation BEFREE We investigated the functional effects this mutation and another at the same residue (R50P) that led to PNDM in association with developmental delay. 16731833 2006