C1QBP, complement C1q binding protein, 708

N. diseases: 111; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.600 GeneticVariation disease UNIPROT Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 28942965 2017
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.600 Biomarker disease GENOMICS_ENGLAND Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 28942965 2017
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.600 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.360 AlteredExpression disease BEFREE C1QBP is highly expressed in breast cancer and positively correlates with MRE11 expression, and the inhibition of C1QBP enhances tumor regression with chemotherapy. 31353207 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.360 GeneticVariation disease BEFREE This study aims to evaluate the potential association of single nucleotide polymorphisms (SNPs) of HABP1 with breast cancer in northern Chinese women. 28108744 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.360 AlteredExpression disease BEFREE Furthermore, C1QBP was observed to be overexpressed in breast cancer tissues, and its expression level was closely linked with distant metastasis and TNM stages. 23924515 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.360 AlteredExpression disease BEFREE As p32 is overexpressed and surface displayed in breast cancers, we studied the efficacy of the nanosystem in this cancer. 23959073 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.360 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.360 Biomarker disease BEFREE HABP1 might be an independent predictive factor for breast cancer prognosis and up-regulation of HABP1 might play an important role in the metastasis of breast cancer. 19565630 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.360 AlteredExpression disease BEFREE Since p52, p51 and p33 correlate with uPA levels, these forms of Ets-1 may play a role in breast cancer metastasis. 15365563 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.350 AlteredExpression disease BEFREE C1QBP is highly expressed in breast cancer and positively correlates with MRE11 expression, and the inhibition of C1QBP enhances tumor regression with chemotherapy. 31353207 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.350 GeneticVariation disease BEFREE This study aims to evaluate the potential association of single nucleotide polymorphisms (SNPs) of HABP1 with breast cancer in northern Chinese women. 28108744 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.350 AlteredExpression disease BEFREE Furthermore, C1QBP was observed to be overexpressed in breast cancer tissues, and its expression level was closely linked with distant metastasis and TNM stages. 23924515 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.350 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.350 Biomarker disease BEFREE HABP1 might be an independent predictive factor for breast cancer prognosis and up-regulation of HABP1 might play an important role in the metastasis of breast cancer. 19565630 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.350 AlteredExpression disease BEFREE Since p52, p51 and p33 correlate with uPA levels, these forms of Ets-1 may play a role in breast cancer metastasis. 15365563 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.310 Biomarker group BEFREE Application of polymersomes engineered to target p32 protein for detection of small breast tumors in mice. 29721153 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.310 Biomarker group CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C0026848
Disease: Myopathy
Myopathy
0.110 Biomarker group BEFREE C1QBP deficiency represents an important mitochondrial disorder associated with a clinical spectrum ranging from infantile lactic acidosis to childhood (cardio)myopathy and late-onset progressive external ophthalmoplegia. 28942965 2017
Chronic progressive external ophthalmoplegia
0.110 Biomarker disease BEFREE C1QBP deficiency represents an important mitochondrial disorder associated with a clinical spectrum ranging from infantile lactic acidosis to childhood (cardio)myopathy and late-onset progressive external ophthalmoplegia. 28942965 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.110 Biomarker group BEFREE Cardiomyocyte-specific loss of mitochondrial p32/C1qbp causes cardiomyopathy and activates stress responses. 28498888 2017
CUI: C0026848
Disease: Myopathy
Myopathy
0.110 Biomarker group HPO
Chronic progressive external ophthalmoplegia
0.110 Biomarker disease HPO