AKAP13, A-kinase anchoring protein 13, 11214

N. diseases: 73; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 18381585 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 17918192 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE Thus, genetic alterations within the candidate cancer susceptibility gene AKAP13 would be expected to provoke a constitutive Rho signalling, thereby facilitating the development of cancer. 16234258 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE In 2008 the Ludwig Boltzmann Cluster Oncology (LBC ONC) was established on the basis of two previous Ludwig Boltzmann Institutes working in the field of hematology and cancer research. 30006759 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 AlteredExpression phenotype BEFREE These data suggest that AKAP13 was expressed in relation with ROCK1/2, which probably play an overall role in both mucosal healing and tumorigenesis. 28434818 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 AlteredExpression phenotype BEFREE Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis. 26578795 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 17918192 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 Biomarker phenotype BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 18381585 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 18381585 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear. 17918192 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 Biomarker group BEFREE Thus, genetic alterations within the candidate cancer susceptibility gene AKAP13 would be expected to provoke a constitutive Rho signalling, thereby facilitating the development of cancer. 16234258 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 Biomarker disease BEFREE Furthermore, the significant modulation and good diagnostic performances of glutamate, N-acetyl glycoprotein and Lactate in LBC as compared to EBC give their significance in the BC progression. 30059813 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 Biomarker disease BEFREE Furthermore, the significant modulation and good diagnostic performances of glutamate, N-acetyl glycoprotein and Lactate in LBC as compared to EBC give their significance in the BC progression. 30059813 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 PosttranslationalModification disease BEFREE We show that the PKA-anchoring protein AKAP13 is essential for the phosphorylation of ERαS305, which leads to tamoxifen resistance both in cell lines and tamoxifen-treated breast cancer patients. 26272591 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 PosttranslationalModification disease BEFREE We show that the PKA-anchoring protein AKAP13 is essential for the phosphorylation of ERαS305, which leads to tamoxifen resistance both in cell lines and tamoxifen-treated breast cancer patients. 26272591 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation disease BEFREE Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005). 16956908 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation disease BEFREE Here, we discovered that carriers of both variants, AKAP10 Ile646Val and AKAP13 Lys526Gln, are at a further enhanced breast cancer risk (OR=2.41, 95% CI 1.30-4.46, P=0.005). 16956908 2007
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.020 Biomarker group BEFREE In addition, the concept of preleukemic (premalignant) neoplastic stem cells (pre-L-NSC) was coined by the LBC ONC and was tested in myelodysplastic syndromes and myeloproliferative neoplasms. 30006759 2018
CUI: C0024530
Disease: Malaria
Malaria
0.020 Biomarker disease BEFREE These key functions make Plasmodium P47 an attractive target to disrupt malaria transmission. 29229188 2017
CUI: C0024530
Disease: Malaria
Malaria
0.020 Biomarker disease BEFREE Our data establish a dual role of P. berghei P47 in vivo and reinforce the use of this parasite to study the impact of the mosquito immune response on human malaria transmission. 28729672 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.020 Biomarker group BEFREE Stratifying breast tumors on ERα Serine 305 phosphorylation status resulted in the identification of a gene network centered upon AKAP13. 26272591 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.020 GeneticVariation disease BEFREE Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR=1.58). 16956908 2007
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.020 GeneticVariation disease BEFREE Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer. 16234258 2006
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.020 GeneticVariation group LHGDN Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer. 16234258 2006
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.020 GeneticVariation group BEFREE A male CGD patient with pg91(phox) deficiency exhibited a trend toward prolongation of this calcium response, whereas two other CGD patients (one with p47 and one with 67(phox) deficiencies) had normal calcium transients. 15527168 2004