Disease: DIABETES MELLITUS, PERMANENT NEONATAL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778892038
rs778892038
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. 16613899 2006
dbSNP: rs778892038
rs778892038
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 16885549 2006
dbSNP: rs778892038
rs778892038
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. 17668386 2007
dbSNP: rs778892038
rs778892038
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.700 GeneticVariation UNIPROT Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 17213273 2007