Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017638
Disease: Glioma
Glioma 		0.700 Biomarker disease CTD_human We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)). 19578367 2009
CUI: C0017638
Disease: Glioma
Glioma 		0.700 Biomarker disease CTD_human Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. 19578366 2009
CUI: C0017638
Disease: Glioma
Glioma 		0.700 CausalMutation disease CGI
CUI: C0017638
Disease: Glioma
Glioma 		0.700 GenomicAlterations disease CGI
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.500 Biomarker disease CTD_human In 3 of the 14 regions, TCF7L2 (T2D), CTLA4 (Graves' disease) and CDKN2A-CDKN2B (T2D), much of the posterior probability rested on a single SNP, and, in 4 other regions (CDKN2A-CDKN2B (CAD) and CDKAL1, FTO and HHEX (T2D)), the 95% sets were small, thereby excluding most SNPs as potentially causal. 23104008 2012
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.450 Biomarker disease CTD_human We also show that CDKN2A and CDKN2B are upregulated in the retina of a rat model of glaucoma. 21532571 2011
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 Biomarker group CTD_human P15INK4B gene hypermethylation is closely associated with MDS pathogenesis. 17294728 2007
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.400 Biomarker group CTD_human The p15INK4b promoter region was hypermethylated in two additional 2',3'-dideoxycytidine-induced lymphomas. 9488045 1998
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 CausalMutation group CGI
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 GenomicAlterations group CGI
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.360 Biomarker disease CTD_human Bayesian refinement of association signals for 14 loci in 3 common diseases. 23104008 2012
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.340 Biomarker disease CTD_human Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. 19578366 2009
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		0.340 Biomarker disease CTD_human Genome-wide association study identifies five susceptibility loci for glioma. 19578367 2009
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.330 GeneticVariation disease UNIPROT
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		0.310 GeneticVariation disease ORPHANET Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. 19141585 2009
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		0.300 Biomarker disease CTD_human Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. 19578366 2009
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		0.300 Biomarker disease CTD_human Genome-wide association study identifies five susceptibility loci for glioma. 19578367 2009
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		0.300 Biomarker phenotype CTD_human [Methylation of P15INK4B gene in patients with myelodysplastic syndromes and demethylating effects of drugs]. 17294728 2007
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.300 GeneticVariation disease ORPHANET