Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Sera from 5% to 10% of patients with different types of cancer contain specific antibodies to RAP80/UIMC1. 17562356 2007
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE Sera from 5% to 10% of patients with different types of cancer contain specific antibodies to RAP80/UIMC1. 17562356 2007
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: 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
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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 GeneticVariation disease LHGDN Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility. 18270812 2009
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: 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: 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 GeneticVariation group LHGDN Germline RAP80 mutations and susceptibility to breast cancer. 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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 GeneticVariation group BEFREE Although evidently quite rare, these results suggest that critical constitutional mutations in RAP80 abrogate DDR function and may be involved in genetic predisposition to cancer. 19305427 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 GeneticVariation group BEFREE Although evidently quite rare, these results suggest that critical constitutional mutations in RAP80 abrogate DDR function and may be involved in genetic predisposition to cancer. 19305427 2009
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: 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: 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: 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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 AlteredExpression disease BEFREE Tubulin, BRCA1, ERCC1, Abraxas, RAP80 mRNA expression, p53/p21 immunohistochemistry and clinical outcome in patients with advanced non small-cell lung cancer receiving first-line platinum-gemcitabine chemotherapy. 21529986 2011
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