Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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 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: 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: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 GeneticVariation disease BEFREE In summary, we did not find truncating mutations of the RAP80 gene to be a cause of familial breast cancer. 18306035 2009
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.020 GeneticVariation disease BEFREE Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility. 18270812 2009
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: 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
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: 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: 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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 AlteredExpression disease BEFREE Low RAP80 mRNA expression correlates with shorter survival in sporadic high-grade serous ovarian carcinoma. 27443420 2017
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 AlteredExpression group BEFREE The majority of RAP80/UIMC1 transcripts was detected both in normal tissues and in colon tumors. 17562356 2007
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 GeneticVariation group BEFREE Compared with wild-type RAP80, expression of the delE81 allele was associated with a significant increase in cytogenetically detectable chromosomal aberrations, particularly chromatid breaks. 19305427 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 Biomarker disease BEFREE These findings implicate MERIT40 in the earliest stages of ICL repair and define specific functional interactions between RAP80 complex-dependent ubiquitin recognition and the Fanconi anemia (FA)-BRCA ICL repair network. 26338419 2015
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 Biomarker disease BEFREE These findings implicate MERIT40 in the earliest stages of ICL repair and define specific functional interactions between RAP80 complex-dependent ubiquitin recognition and the Fanconi anemia (FA)-BRCA ICL repair network. 26338419 2015
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: 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: 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