Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.600 CausalMutation disease CLINVAR
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.600 CausalMutation disease CGI
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.500 CausalMutation group CGI
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.500 Biomarker group CTD_human
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.500 Biomarker disease CTD_human
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.500 CausalMutation disease CGI
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.460 Biomarker disease CTD_human
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.460 Biomarker disease HPO
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		0.400 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.360 Biomarker disease CTD_human
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.320 Biomarker group CTD_human
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.300 GeneticVariation disease ORPHANET
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human
CUI: C1849385
Disease: Rhabdomyosarcoma 1
Rhabdomyosarcoma 1 		0.300 Biomarker disease CTD_human
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma 		0.100 Biomarker disease HPO
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		0.100 Biomarker phenotype HPO
CUI: C4016802
Disease: RHABDOMYOSARCOMA, SOMATIC
RHABDOMYOSARCOMA, SOMATIC 		0.100 CausalMutation disease CLINVAR
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 GeneticVariation disease BEFREE Comparison of the frequency distributions of the CYP2D6 PM, HET and EM genotypes (G-->A transition at intron 3/exon 4 and base pair deletion in exon 5) revealed no significant differences between the menorrhagia and SCC groups. 7917923 1994
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.460 Biomarker disease BEFREE We were able to show that HET is localized in the nuclear matrix in various breast cancer cell lines. 9328833 1997
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.360 Biomarker disease BEFREE We were able to show that HET is localized in the nuclear matrix in various breast cancer cell lines. 9328833 1997
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.460 GeneticVariation disease BEFREE Because this region frequently is altered in neoplasms and in the genetic disease Beckwith-Wiedemann syndrome, we carried out a mutational analysis in tumor cell lines and Beckwith-Wiedemann syndrome samples that resulted in the identification of genetic alterations in the BWR1A gene: an insertion that introduced a stop codon in the breast cancer cell line BT549 and a point mutation in the rhabdomyosarcoma cell line TE125-T. 9520460 1998
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		0.400 GeneticVariation disease ORPHANET Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples. 9520460 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.360 GeneticVariation disease BEFREE Because this region frequently is altered in neoplasms and in the genetic disease Beckwith-Wiedemann syndrome, we carried out a mutational analysis in tumor cell lines and Beckwith-Wiedemann syndrome samples that resulted in the identification of genetic alterations in the BWR1A gene: an insertion that introduced a stop codon in the breast cancer cell line BT549 and a point mutation in the rhabdomyosarcoma cell line TE125-T. 9520460 1998