NCOA2, nuclear receptor coactivator 2, 10499

N. diseases: 95; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.100 GeneticVariation disease GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Genetically, a subset of the congenital cases display NCOA2 gene rearrangements, whereas tumors occurring in older children or adults harbor MYOD1 gene mutations with or without coexisting PIK3CA mutations. 26501226 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Recently, two fusion genes were described in mesenchymal chondrosarcomas: a recurrent HEY1-NCOA2 found in tumors that had not been cytogenetically characterized and an IRF2BP2-CDX1 found in a tumor carrying a t(1;5)(q42;q32) translocation as the sole chromosomal abnormality. 24839999 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE This study reports the morphologic spectrum of UTROSCT and confirms the recently reported recurrent NCOA2-3 gene fusions, in addition to identifying novel rearrangements involving NCOA1 in these tumors. 31464709 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE A solitary fibrous tumor-mimicking tumor with the AHRR-NCOA2 gene has been isolated as angiofibroma of soft tissue. 28759137 2017
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
High density lipoprotein measurement
0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
High density lipoprotein measurement
0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
QT interval feature (observable entity)
0.100 GeneticVariation phenotype GWASCAT Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. 24952745 2014
CUI: C0206637
Disease: Mesenchymal Chondrosarcoma
Mesenchymal Chondrosarcoma
0.090 GeneticVariation disease BEFREE The morphologic features are distinct from other sarcomas associated with NCOA2 gene fusions, including mesenchymal chondrosarcoma, congenital/infantile spindle cell rhabdomyosarcoma, and soft tissue angiofibroma. 30179902 2018
CUI: C0206637
Disease: Mesenchymal Chondrosarcoma
Mesenchymal Chondrosarcoma
0.090 GeneticVariation disease BEFREE Pancreatic involvement by mesenchymal chondrosarcoma harboring the HEY1-NCOA2 gene fusion. 27544802 2016
CUI: C0206637
Disease: Mesenchymal Chondrosarcoma
Mesenchymal Chondrosarcoma
0.090 GeneticVariation disease BEFREE Our findings show 2 variants of the HEY1-NCOA2 gene fusion: HEY1 (exon 4)-NCOA2 (exon 13) and HEY1 (exon 4)-NCOA2 (exon 14), in both mesenchymal chondrosarcoma patients. 30819134 2019
Childhood Mesenchymal Chondrosarcoma
0.080 GeneticVariation disease BEFREE The transcription factor gene NCOA2 was one of the candidates identified in a mesenchymal chondrosarcoma. 22034177 2012
Childhood Mesenchymal Chondrosarcoma
0.080 GeneticVariation disease BEFREE Pancreatic involvement by mesenchymal chondrosarcoma harboring the HEY1-NCOA2 gene fusion. 27544802 2016
Childhood Mesenchymal Chondrosarcoma
0.080 GeneticVariation disease BEFREE Our findings show 2 variants of the HEY1-NCOA2 gene fusion: HEY1 (exon 4)-NCOA2 (exon 13) and HEY1 (exon 4)-NCOA2 (exon 14), in both mesenchymal chondrosarcoma patients. 30819134 2019
Childhood Mesenchymal Chondrosarcoma
0.080 GeneticVariation disease BEFREE The morphologic features are distinct from other sarcomas associated with NCOA2 gene fusions, including mesenchymal chondrosarcoma, congenital/infantile spindle cell rhabdomyosarcoma, and soft tissue angiofibroma. 30179902 2018
CUI: C0206731
Disease: Angiofibroma
Angiofibroma
0.070 GeneticVariation disease BEFREE Angiofibroma of soft tissue with fibrohistiocytic features and intratumor genetic heterogeneity of NCOA2 gene rearrangement revealed by chromogenic in situ hybridization: a case report. 24888778 2014
CUI: C0206731
Disease: Angiofibroma
Angiofibroma
0.070 GeneticVariation disease BEFREE Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes. 22337624 2012
CUI: C4721413
Disease: Juvenile angiofibroma
Juvenile angiofibroma
0.070 GeneticVariation disease BEFREE Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes. 22337624 2012
CUI: C4721413
Disease: Juvenile angiofibroma
Juvenile angiofibroma
0.070 GeneticVariation disease BEFREE Angiofibroma of soft tissue with fibrohistiocytic features and intratumor genetic heterogeneity of NCOA2 gene rearrangement revealed by chromogenic in situ hybridization: a case report. 24888778 2014
CUI: C0023418
Disease: leukemia
leukemia
0.060 GeneticVariation disease LHGDN The ETV6-NCOA2 fusion may define a novel subgroup of acute leukemia with T-lymphoid and myeloid features, which is associated with a high prevalence of NOTCH1 mutations. 18281529 2008
CUI: C0023418
Disease: leukemia
leukemia
0.060 GeneticVariation disease BEFREE This similarity is also apparent at the molecular genetic level, in-as-much as the MOZ gene in 8p11 is rearranged in both the translocation and the inversion; in t(8;16)-positive leukemia, a MOZ-CBP chimeric gene is generated, whereas inv(8) has been shown to generate a MOZ-TIF2 fusion gene. 11342350 2000
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.050 GeneticVariation disease BEFREE This similarity is also apparent at the molecular genetic level, in-as-much as the MOZ gene in 8p11 is rearranged in both the translocation and the inversion; in t(8;16)-positive leukemia, a MOZ-CBP chimeric gene is generated, whereas inv(8) has been shown to generate a MOZ-TIF2 fusion gene. 11342350 2000