Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity 		0.440 GeneticVariation disease GWASCAT Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. 20421936 2010
CUI: C0028754
Disease: Obesity
Obesity 		0.440 GeneticVariation disease BEFREE Apart from previously identified FTO, MC4R, and TMEM18, we detected two new loci for obesity: one in SDCCAG8 (serologically defined colon cancer antigen 8 gene; p = 1.85x10(-8) in the DISCOVERY step) and one between TNKS (tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase gene) and MSRA (methionine sulfoxide reductase A gene; p = 4.84x10(-7)), the latter finding being limited to children and adolescents as demonstrated in the GENERALIZATION step. 20421936 2010
CUI: C0028754
Disease: Obesity
Obesity 		0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0028754
Disease: Obesity
Obesity 		0.440 Biomarker disease HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. 31268507 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Biological insights from 108 schizophrenia-associated genetic loci. 25056061 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASDB Genome-wide association analysis identifies 13 new risk loci for schizophrenia. 23974872 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. 24166486 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 Biomarker disease BEFREE After combining the new schizophrenia data with those of the PGC, variants at three loci (ITIH3/4, CACNA1C and SDCCAG8) that had not previously been GWS in schizophrenia attained that level of support. 22614287 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 Biomarker disease PSYGENET After combining the new schizophrenia data with those of the PGC, variants at three loci (ITIH3/4, CACNA1C and SDCCAG8) that had not previously been GWS in schizophrenia attained that level of support. 22614287 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 13 new risk loci for schizophrenia. 23974872 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASCAT Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASDB Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896 2011
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 CausalMutation disease CLINVAR Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896 2011
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 22190896 2011
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 CausalMutation disease CLINVAR Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 GeneticVariation disease CLINVAR Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010
CUI: C3150877
Disease: SENIOR-LOKEN SYNDROME 7
SENIOR-LOKEN SYNDROME 7 		0.400 Biomarker disease GENOMICS_ENGLAND Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 20835237 2010