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: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
CUI: C0017638
Disease: Glioma
Glioma 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		0.100 GeneticVariation group GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443 2017
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.100 GeneticVariation phenotype GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 Biomarker disease BEFREE Targeting proteins involved in vesicular transport like Rab GTPases, the neural precursor cell-expressed developmentally downregulated protein 9 (NEDD9), runt-related transcription factor 2 (RUNX2), human rhomboid family-1 (RHBDF1), monocarboxylate transporter 4, etc., would aid in designing improved therapeutics for the treatment of breast cancer. 31828433 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Increased expression of iRhom1, iRhom2, and K‑i67 was significantly associated with tumor stage, size, and parametrium invasion. 31661139 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 Biomarker disease BEFREE Targeting proteins involved in vesicular transport like Rab GTPases, the neural precursor cell-expressed developmentally downregulated protein 9 (NEDD9), runt-related transcription factor 2 (RUNX2), human rhomboid family-1 (RHBDF1), monocarboxylate transporter 4, etc., would aid in designing improved therapeutics for the treatment of breast cancer. 31828433 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 AlteredExpression disease BEFREE Since early stages of breast cancer are characterized by the loss of mammary gland epithelial cell polarity, our findings indicate that perturbations of apicobasal polarity by high levels of RHBDF1 is a significant attribute in the development of breast neoplasia.-Peng, X.-M., Gao, S., Deng, H.-T., Cai, H.-X., Zhou, Z., Xiang, R., Zhang, Q.-Z., Li, L.-Y. 29727209 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 Biomarker disease BEFREE RHBDF1 was silenced in various breast cancer cells using shRNA. 30279141 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Since early stages of breast cancer are characterized by the loss of mammary gland epithelial cell polarity, our findings indicate that perturbations of apicobasal polarity by high levels of RHBDF1 is a significant attribute in the development of breast neoplasia.-Peng, X.-M., Gao, S., Deng, H.-T., Cai, H.-X., Zhou, Z., Xiang, R., Zhang, Q.-Z., Li, L.-Y. 29727209 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 Biomarker disease BEFREE RHBDF1 was silenced in various breast cancer cells using shRNA. 30279141 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 AlteredExpression disease BEFREE Since early stages of breast cancer are characterized by the loss of mammary gland epithelial cell polarity, our findings indicate that perturbations of apicobasal polarity by high levels of RHBDF1 is a significant attribute in the development of breast neoplasia.-Peng, X.-M., Gao, S., Deng, H.-T., Cai, H.-X., Zhou, Z., Xiang, R., Zhang, Q.-Z., Li, L.-Y. 29727209 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 AlteredExpression disease BEFREE We report here that RHBDF1 expression in breast cancer is highly elevated and is strongly correlated with escalated disease progression, metastasis, poor prognosis, and poor response to chemotherapy. 24648344 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 AlteredExpression disease BEFREE We report here that RHBDF1 expression in breast cancer is highly elevated and is strongly correlated with escalated disease progression, metastasis, poor prognosis, and poor response to chemotherapy. 24648344 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE We show here that a novel gene, human rhomboid family-1 (RHBDF1), which was recently reported to have a pivotal role in epithelial cancer cell growth in culture and in xenograft tumors, participates in the modulation of GPCR-mediated EGFR transactivation. 18832597 2009
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
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE Furthermore, silencing the RHBDF1 gene in MDA-MB-435 or 1483 xenograft tumors on athymic nude mice by using i.v. administered histidine-lysine polymer nanoparticle-encapsulated siRNA results in marked inhibition of tumor growth. 18524845 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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
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: 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: 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: 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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.030 AlteredExpression phenotype BEFREE Increased expression of iRhom1, iRhom2, and K‑i67 was significantly associated with tumor stage, size, and parametrium invasion. 31661139 2020