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: 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: 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: 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: 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: 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: 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: 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 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: 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: 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 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: 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 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE RHBDF1 is an indispensable component of the protein trafficking machinery involved in GPCR-mediated EGFR transactivation, and is an attractive therapeutic target for cancer. 30279141 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE Silencing the RHBDF1 gene in head and neck squamous cancer cell line 1483 cells with siRNA causes an inhibition of gastrin-releasing peptide (GRP) -induced phosphorylation of EGFR and EGFR-dependent signaling proteins p44/42 MAPK and AKT, accompanied by an inhibition of GRP-induced survival, proliferation, and invasion of the cells. 18832597 2009
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.030 Biomarker phenotype BEFREE RHBDF1-dependent cell viability and invasion were measured. 30279141 2018
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE Silencing the RHBDF1 gene in head and neck squamous cancer cell line 1483 cells with siRNA causes an inhibition of gastrin-releasing peptide (GRP) -induced phosphorylation of EGFR and EGFR-dependent signaling proteins p44/42 MAPK and AKT, accompanied by an inhibition of GRP-induced survival, proliferation, and invasion of the cells. 18832597 2009
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE RHBDF1 is an indispensable component of the protein trafficking machinery involved in GPCR-mediated EGFR transactivation, and is an attractive therapeutic target for cancer. 30279141 2018
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 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: 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