RHBDF1, rhomboid 5 homolog 1, 64285

N. diseases: 41; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.010 GeneticVariation group BEFREE Towards a goal of using recombinant adeno-associated viruses (AAV) for the gene therapy of hemoglobinopathies we had previously constructed plasmid pAV h beta G psi 1, which contained a human beta-globin-encoding cDNA (HBB) downstream from the P40 promoter of AAV2 DNA [Ohi et al., Gene 89 (1990) 279-282]. 1655580 1991
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE Intratumoral or subcutaneous (away from the tumor site) injections of purified epidermal growth factor receptor-related protein caused regression of palpable colon cancer xenograft tumors in some severely compromised immunodeficient mice and arrested tumor growth in others. 12730874 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 AlteredExpression disease BEFREE We also studied whether epidermal growth factor receptor-related protein expression is altered in colorectal cancer. 12730874 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE Epidermal growth factor receptor-related protein expression was found to be high in benign human colonic epithelium but low in adenocarcinoma. 12730874 2003
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 Biomarker disease BEFREE Epidermal growth factor receptor-related protein-induced inhibition of proliferation of colon cancer cells was prevented by epidermal growth factor receptor-related protein antibodies. 12730874 2003
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 Biomarker disease BEFREE Intratumoral or subcutaneous (away from the tumor site) injections of purified epidermal growth factor receptor-related protein caused regression of palpable colon cancer xenograft tumors in some severely compromised immunodeficient mice and arrested tumor growth in others. 12730874 2003
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 Biomarker disease BEFREE Epidermal growth factor receptor-related protein-induced inhibition of proliferation of colon cancer cells was prevented by epidermal growth factor receptor-related protein antibodies. 12730874 2003
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 AlteredExpression disease BEFREE We also studied whether epidermal growth factor receptor-related protein expression is altered in colorectal cancer. 12730874 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 AlteredExpression disease BEFREE ErbB2 (epidermal growth factor receptor-related protein B2) is frequently overexpressed in human breast cancer and is sufficient for mammary tumorigenesis in vivo. 12810676 2003
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 AlteredExpression disease BEFREE ErbB2 (epidermal growth factor receptor-related protein B2) is frequently overexpressed in human breast cancer and is sufficient for mammary tumorigenesis in vivo. 12810676 2003
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis 		0.010 AlteredExpression phenotype BEFREE ErbB2 (epidermal growth factor receptor-related protein B2) is frequently overexpressed in human breast cancer and is sufficient for mammary tumorigenesis in vivo. 12810676 2003
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE Reduced expression of epidermal growth factor receptor-related protein in hepatocellular carcinoma: implications for cancer growth. 15205570 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Mean scores for ERRP expression decreased significantly across well differentiated, moderately well differentiated and poorly differentiated (P = 0.002) tumors, respectively. 15327841 2004
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE Expression of epidermal growth factor-receptor related protein (ERRP) in human colorectal carcinogenesis. 15327841 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 AlteredExpression group BEFREE Expression of ERRP in cancer cells inversely correlated with cell proliferation and grade of malignancy. 15647181 2005
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 AlteredExpression group BEFREE Expression of ERRP in cancer cells inversely correlated with cell proliferation and grade of malignancy. 15647181 2005
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 AlteredExpression disease BEFREE We examined ERRP expression and localisation in surgical specimens of gastric cancers from 47 patients versus non-malignant gastric mucosa and determined their relationship to cell proliferation and differentiation. 15647181 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE Cell lines derived from metastatic gastric cancers had reduced ERRP expression compared with cell lines derived from a non-metastatic cancer. 15647181 2005
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm 		0.010 AlteredExpression phenotype BEFREE Cell lines derived from metastatic gastric cancers had reduced ERRP expression compared with cell lines derived from a non-metastatic cancer. 15647181 2005
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 AlteredExpression disease BEFREE Because of the causal involvement of EGFR and its ligands in gastric cancer growth, we investigated expression of ERRP and cell proliferation in human gastric cancer. 15647181 2005
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 AlteredExpression group BEFREE Cell lines derived from metastatic gastric cancers had reduced ERRP expression compared with cell lines derived from a non-metastatic cancer. 15647181 2005
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.030 Biomarker phenotype BEFREE Epidermal growth factor receptor-related protein inhibits cell growth and invasion in pancreatic cancer. 16885366 2006
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 Biomarker disease BEFREE Epidermal growth factor receptor-related protein inhibits cell growth and invasion in pancreatic cancer. 16885366 2006
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 Biomarker disease BEFREE Epidermal growth factor receptor-related protein inhibits cell growth and invasion in pancreatic cancer. 16885366 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 Biomarker disease BEFREE Silencing the RHBDF1 gene with short interfering RNA (siRNA) results in apoptosis in breast cancer MDA-MB-435 cells and autophagy in head and neck squamous cell cancer 1483 cells. 18524845 2008