Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C1314691
Disease: Age at menarche
Age at menarche
0.100 GeneticVariation phenotype GWASCAT Elucidating the genetic architecture of reproductive ageing in the Japanese population. 29773799 2018
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.100 GeneticVariation phenotype GWASCAT Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 26414677 2015
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.100 GeneticVariation phenotype GWASCAT Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 22267201 2012
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.100 GeneticVariation phenotype GWASDB Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. 22267201 2012
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.100 GeneticVariation phenotype GWASDB Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. 19448621 2009
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.100 GeneticVariation phenotype GWASCAT Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. 19448621 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE Here we show that in the BRCA1-A complex structure, ABRAXAS integrates the DNA repair protein RAP80 and provides a high-affinity binding site that sequesters the tumor suppressor BRCA1 away from the break site. 31253574 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 AlteredExpression group BEFREE RAP80 expression was related to tumor size, lymph node metastasis, TNM stage, and molecular subtype (<i>P</i><0.05). 30705591 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE RAP80 has been reported to affect outcome in some solid neoplasms. 27443420 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 AlteredExpression group BEFREE BRCA1 PARsylation and/or RAP80 expression is defective in a subset of sporadic breast cancer cell lines and patient-derived tumor xenograft models. 25252691 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 Biomarker group BEFREE Identification of TOV-21G as a RAP80 null tumor cell line will be very useful for the study of the molecular mechanism in DNA damage response. 22792303 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 AlteredExpression group BEFREE Quantitative PCR or immunohistochemistry were used to analyze the expression of β-tubuline IIA (TUBB2A), β-tubuline III (TUBB3), BRCA1, ERCC1, Abraxas (ABRX) and RAP80 in mRNA isolated from paraffin-embedded tumor biopsies of 45 NSCLC patients treated as part of a larger observational trial. 21529986 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 AlteredExpression group BEFREE There are several RAP80/UIMC1 isoforms that are predominantly expressed in testis, however we did not observe elevated expression of these transcripts in tumors from seropositive patients. 17562356 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 AlteredExpression disease BEFREE RAP80 expression in breast cancer (62.3%, 101/162) was significantly lower than that in adjacent normal breast tissues (<i>P</i><0.05). 30705591 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 AlteredExpression disease BEFREE RAP80 expression in breast cancer (62.3%, 101/162) was significantly lower than that in adjacent normal breast tissues (<i>P</i><0.05). 30705591 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 AlteredExpression disease BEFREE Association between the epithelial growth factor receptor (EGFR) mutation and the expression of breast cancer 1 (BRCA1) and receptor-associated protein 80 (RAP80) in non-small cell lung cancer (NSCLC) was studied. 30008919 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 AlteredExpression disease BEFREE Association between the epithelial growth factor receptor (EGFR) mutation and the expression of breast cancer 1 (BRCA1) and receptor-associated protein 80 (RAP80) in non-small cell lung cancer (NSCLC) was studied. 30008919 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 Biomarker disease BEFREE Mutation screening of the MERIT40 gene encoding a novel BRCA1 and RAP80 interacting protein in breast cancer families. 19572197 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE Mutation screening of the MERIT40 gene encoding a novel BRCA1 and RAP80 interacting protein in breast cancer families. 19572197 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation disease BEFREE A novel RAP80 haplotype or rare missense mutations may be associated with a modest increased risk of breast cancer, but this observation needs to be confirmed by additional studies. 18306035 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 GeneticVariation disease BEFREE Conclusions Overall, it seems unlikely that moderate to highly penetrant alleles of either RAP80 or Abraxas, confer a significantly high relative risk of breast cancer. 18695986 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.060 Biomarker disease BEFREE Our analysis suggests that RAP80 and CCDC98 do not play an important role as high penetrance breast cancer susceptibility genes. 18270812 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.060 Biomarker disease BEFREE Our analysis suggests that RAP80 and CCDC98 do not play an important role as high penetrance breast cancer susceptibility genes. 18270812 2009