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: rs80356642
rs80356642
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 GeneticVariation UNIPROT Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. 17668386 2007
dbSNP: rs80356642
rs80356642
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 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
dbSNP: rs80356642
rs80356642
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 GeneticVariation UNIPROT Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 16885549 2006
dbSNP: rs80356642
rs80356642
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 GeneticVariation UNIPROT A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. 16613899 2006
dbSNP: rs80356642
rs80356642
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C1833104
Disease:
DIABETES MELLITUS, PERMANENT NEONATAL 		C 0.800 CausalMutation CLINVAR