Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.100 GeneticVariation group GWASDB Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 22960999 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C1835887
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1835887
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1835887
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
Hypoglycemia, leucine-induced 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
Hypoglycemia, leucine-induced 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
Hypoglycemia, leucine-induced 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C1835887
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 		0.900 GeneticVariation disease UNIPROT Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 16885549 2006
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 GeneticVariation disease UNIPROT In insulin-treated patients who matched the clinical criteria for PNDM, the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU. 17213273 2007
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 GeneticVariation disease UNIPROT Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 regulatory subunit of the K(ATP) channel have recently been reported. 17668386 2007
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 GeneticVariation disease UNIPROT A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. 16613899 2006
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		0.800 GeneticVariation disease UNIPROT Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. 16885549 2006
CUI: C0271714
Disease: Hypoglycemia, leucine-induced
Hypoglycemia, leucine-induced 		0.700 GeneticVariation disease UNIPROT Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. 15356046 2004
CUI: C2931832
Disease: Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1 		0.700 GeneticVariation disease UNIPROT Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. 8751851 1996