Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation
0.010 GeneticVariation phenotype BEFREE Tumor cell subpopulations that express cancer stem cell markers such as CD133 (prominin1) or ABCB5 are thought to be crucial for tumor initiation and heterogeneity, but their biological significance in melanoma has been controversial. 22865455 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 AlteredExpression phenotype BEFREE Knockdown of ABCB5 expression reduces melanoma cell migration and invasion in vitro and melanoma pulmonary metastasis in tumor xenograft mice. 28821433 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 AlteredExpression phenotype BEFREE Knocking down ZEB1 inhibits ABCB5 ectopic expression-induced migration and invasion, as well as EMT. 28281973 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE The ABCB5 transmembrane protein was tested due to its well-known role in the initiation, invasion and metastatic spread of various cancers, including melanoma. 28704989 2019
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.010 GeneticVariation disease BEFREE This corresponds to human 9q31.1, a chromosomal segment that contains the ATP-binding cassette protein-1 (ABCA1) gene, which is mutated in Tangier Disease and familial hypoalphalipoproteinemia. 12364545 2002
Secondary malignant neoplasm of lymph node
0.010 Biomarker disease BEFREE Several biomarkers were (ALDH1, Sox2, Oct4, ABCB5, AGR2 and TAZ) correlated with clinical characteristics of the tumor, such as staging, tumor size and lymph node metastasis. 30076557 2018
Secondary malignant neoplasm of lung
0.010 AlteredExpression disease BEFREE Knockdown of ABCB5 expression reduces melanoma cell migration and invasion in vitro and melanoma pulmonary metastasis in tumor xenograft mice. 28821433 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 Biomarker group BEFREE Based on these genetic association data we propose that ABCB5 and C16orf96 are novel candidate risk genes for sarcoma. 31053105 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.080 GeneticVariation group BEFREE Following gene-based burden testing and after correction for multiple testing, two of these genes, ABCB5 and C16orf96, were determined to show statistically significant association with cancer. 31053105 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.080 Biomarker group BEFREE However, the exact mechanism ABCB5 uses on cancer cell metastasis is still unclear. 28281973 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.080 Biomarker group BEFREE ABCB5 is an ABC transporter that was shown to confer low-level multidrug resistance in cancer. 30905807 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.080 Biomarker group BEFREE Our results suggest that the helicase HAGE has a key role in the resistance of ABCB5+ MMICs to IFNα treatment and that cancer therapies targeting HAGE may have broad implications for the treatment of malignant melanoma. 24525737 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.080 Biomarker group BEFREE P-glycoprotein (P-gp) is an ATP-binding cassette protein involved in cancer multi-drug resistance (MDR). 27286705 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.080 Biomarker group BEFREE Therefore, ABCB5 represents a potential target for cancer immunotherapy. 28940439 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.080 Biomarker group BEFREE Tumor cell subpopulations that express cancer stem cell markers such as CD133 (prominin1) or ABCB5 are thought to be crucial for tumor initiation and heterogeneity, but their biological significance in melanoma has been controversial. 22865455 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.080 Biomarker group BEFREE ABC member B5 (ABCB5) mediates multidrug resistance (MDR) in diverse malignancies and confers clinically relevant 5-fluorouracil resistance to CD133-expressing cancer stem cells in human colorectal cancer (CRC). 29789423 2018
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
0.300 GeneticVariation disease UNIPROT
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.010 GeneticVariation group BEFREE Rare coding variants of ATP-binding cassette protein A13 (ABCA13) contribute to the risk of neurological disorders, but little is known about the physiological function of ABCA13 and how single nucleotide polymorphisms (SNPs) affect it. 23221702 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Here we show that ATP-binding cassette member B5 (ABCB5) confers resistance to standard-of-care MCC chemotherapeutic agents and provide proof-of-principle that ABCB5 blockade can inhibit human MCC tumor growth through sensitization to drug-induced cell cytotoxicity. 26827764 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Our results show that anti-melanoma chemotherapy might participate to the chemoresistance acquisition by selecting tumor cell subpopulations expressing ABCB5. 22675422 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Three members of ABC transporters superfamily, P-glycoprotein (P-gp), breast cancer resistance protein (BCRP) and ABCB5 were investigated, whose overexpression in tumors is tightly linked to multidrug resistance. 31132750 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Here we identify a critical role for VEGFR-1 signaling in ABCB5(+) MMIC-dependent VM and tumor growth. 21212411 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Here, we show that ABCB5, which functions as a determinant of membrane potential and regulator of cell fusion in physiologic skin progenitor cells, is expressed in clinical malignant melanoma tumors and preferentially marks a subset of hyperpolarized, CD133+ stem cell phenotype-expressing tumor cells in malignant melanoma cultures and clinical melanomas. 15899824 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE In addition, we investigated the cytotoxicity of these compounds towards cell lines overexpressing other ABC transporters (BCRP, ABCB5), cell lines with a knocked out tumor suppressor gene TP53 or cell lines overexpressing a deletion-activated EGFR oncogene. 30406781 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Here we identify a subpopulation enriched for human malignant-melanoma-initiating cells (MMIC) defined by expression of the chemoresistance mediator ABCB5 (refs 7, 8) and show that specific targeting of this tumorigenic minority population inhibits tumour growth. 18202660 2008