Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 GeneticVariation disease BEFREE Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. 31034465 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.110 GeneticVariation disease BEFREE Likewise, PIK3C2A identified in the gene-based analysis is located in a combined bipolar and schizophrenia GWAS locus. 28195573 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.110 GeneticVariation disease GWASCAT Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. 24280982 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.110 GeneticVariation disease GWASCAT Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.110 GeneticVariation disease GWASDB Genome-wide association study identifies five new schizophrenia loci. 21926974 2011
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.110 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
0.100 GeneticVariation disease GWASCAT Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. 25461247 2015
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. 25461247 2015
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. 25461247 2015
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. 25461247 2015
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
0.100 GeneticVariation disease GWASCAT Genome-wide association study of virologic response with efavirenz-containing or abacavir-containing regimens in AIDS clinical trials group protocols. 25461247 2015
CUI: C0004936
Disease: Mental disorders
Mental disorders
0.100 GeneticVariation group GWASDB Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. 24280982 2014
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.100 GeneticVariation disease GWASCAT Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. 24280982 2014
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
0.100 GeneticVariation group GWASDB Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. 24280982 2014
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia
0.100 Biomarker disease HPO
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria
0.100 Biomarker phenotype HPO
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.100 Biomarker phenotype HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.100 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 Biomarker disease HPO