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: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.300 Biomarker group CTD_human Discovery of deregulation of zinc homeostasis and its associated genes in esophageal squamous cell carcinoma using cDNA microarray. 17068819 2007
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.300 Biomarker group CTD_human A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes. 28319090 2017
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.100 GeneticVariation group GWASDB Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. 23583980 2013
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE In a first phase, the LBC ONC characterized the phenotype and molecular aberration profiles of LSC in various malignancies. 30006759 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE We used LBC, based on SurePathTM (BD Diagnostics) technology, to screen 96 peritoneal fluid samples from patients with known malignancies and from 10 control patients with cirrhosis. 30024911 2018
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: 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: 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: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
0.020 AlteredExpression group BEFREE This observation suggests that patients with CGD may also have a defect in lymphocyte function. p47 protein and mRNA levels increase during retinoic acid-induced neutrophil differentiation of HL60 cells. 2398896 1990
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
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: 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: 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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.020 Biomarker group BEFREE Only 30% of patients with MDS achieved complete remission (CR) after two cycles of AML-directed therapy, compared with 88% of patients with AML-LBC (P=0.0001); MDS patients tended to experience prolonged severe cytopenias with chemotherapy. 9009082 1997
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group BEFREE In the colorectal cancer, AKAP13 and ROCK1/2 were highly expressed in adenocarcinoma compared to the control tissue and low-grade dysplasia. 28434818 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 AlteredExpression group BEFREE ASE reduced oxidative damage markers (TBARS, carbonyl levels and 8-isoprostane) in D and DH associated with a decrease in Nox 4 and p47 subunit expression and increase in antioxidant enzyme activity in both groups (SOD, catalase and GPx). 28105508 2018
CUI: C0020097
Disease: HTLV-I Infections
HTLV-I Infections
0.010 Biomarker group BEFREE The mechanism of p47 degradation is primarily dependent on activation of lysosomal-autophagy and the autophagy is activated in most of the HTLV-infected and ATLL cells, suggesting that the p47 degradation may be a first key molecular event during HTLV-1 infection to T-cells as a connector of two important signaling pathways, NF-κB and autophagy. 30837480 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.010 Biomarker group BEFREE Here, we identified the XIAP enzymatic substrate p47 as a positive regulator of the <i>I. scapularis</i> IMD network. 30559180 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 Biomarker group BEFREE We have now established the PsiNCF1 to NCF1 ratio for a significant number of IBD patients (n = 488) and control subjects (n = 181) and show that there is no statistically significant difference between the frequency of the 1:1 ratio in CD (11.2%) or UC (12.2%) patients and controls (13.4%). 15626894 2004
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 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: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.010 Biomarker group BEFREE Because AKAP13 augmented nuclear receptor signaling in other tissues, we sought to determine whether AKAP13 might influence PR signaling in fibroids. 30239831 2019