Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280285
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 		0.600 Biomarker disease GENOMICS_ENGLAND Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients. 25572454 2015
CUI: C3280285
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 		0.600 GeneticVariation disease UNIPROT Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
CUI: C3280285
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 		0.600 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.100 GeneticVariation phenotype GWASCAT New genetic loci link adipose and insulin biology to body fat distribution. 25673412 2015
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607 2013
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607 2013
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 GeneticVariation phenotype BEFREE The most significant alterations related to peritoneal invasion involved the regions 13q21.1 (gain) and 15q15.1, 17q23.1, 19q13.2 and 20q11.22 (loss of heterozygozity; LOH), where we found LOH of erythrocyte membrane protein band 4.1-like 1 (EPB41L1) gene. 25368240 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 AlteredExpression disease LHGDN Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. 19165527 2009