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: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.010 Biomarker disease BEFREE Three genes (MBNL1, KIF13A, AKAP13) that were previously identified as misspliced in patients with a CTG TNR expansion and FECD disease (RE+/FECD+) were found normally spliced in RE+/FECD- samples. 31469403 2019
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: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.010 Biomarker disease BEFREE Because AKAP13 augmented nuclear receptor signaling in other tissues, we sought to determine whether AKAP13 might influence PR signaling in fibroids. 30239831 2019
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia
0.010 AlteredExpression disease 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: 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
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma
0.010 GeneticVariation disease BEFREE In this study, using the murine LBC T-cell lymphoma, we found that cyclophosphamide significantly increased EVs yield. 30777349 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 AlteredExpression disease 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: 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: C0023418
Disease: leukemia
leukemia
0.010 Biomarker disease BEFREE The general aim of the LBC ONC is to improve treatment of hematopoietic neoplasms by eradicating cancer-initiating and disease-propagating cells, also known as leukemic stem cells (LSC) in the context of leukemia. 30006759 2018
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.010 Biomarker disease 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: 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: C0028754
Disease: Obesity
Obesity
0.010 AlteredExpression disease BEFREE The hypothalamus and pituitary gland are implicated in the development and exacerbation of OCD and obesity and have strong AKAP13 expression. 29653158 2018
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
0.010 AlteredExpression disease BEFREE The hypothalamus and pituitary gland are implicated in the development and exacerbation of OCD and obesity and have strong AKAP13 expression. 29653158 2018
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 Biomarker disease BEFREE Tuberculosis in Pap samples with emphasis on LBC: Caught only when thought. 29193907 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 Biomarker phenotype BEFREE Akap13 haploinsufficiency led to sex-dependent, compulsive-like behavioral changes in a murine model. 29653158 2018
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.010 Biomarker phenotype BEFREE Clozapine, LY294002, or p47 <sup>phox</sup> knockout significantly ameliorated social withdrawal and recognition memory deficits produced by phencyclidine. 30207504 2018
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms
0.010 Biomarker group BEFREE The general aim of the LBC ONC is to improve treatment of hematopoietic neoplasms by eradicating cancer-initiating and disease-propagating cells, also known as leukemic stem cells (LSC) in the context of leukemia. 30006759 2018
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.010 Biomarker disease BEFREE The general aim of the LBC ONC is to improve treatment of hematopoietic neoplasms by eradicating cancer-initiating and disease-propagating cells, also known as leukemic stem cells (LSC) in the context of leukemia. 30006759 2018
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.010 Biomarker disease 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: 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: C0008354
Disease: Cholera
Cholera
0.010 Biomarker disease BEFREE In mouse immunization experiments, intranasal immunization with rec47 alone or with rec47 plus heat-labile enterotoxin B subunit from <i>Escherichia coli</i> or plus cholera toxin (CT) as adjuvants induced a higher amount of rec47-specific antibodies than intramuscular immunization with p47 alone or with p47 plus pBOOST2-samIRF7/3 (pB) as adjuvant. 28719308 2017
CUI: C0009319
Disease: Colitis
Colitis
0.010 Biomarker disease BEFREE These results suggested that AKAP13 and ROCK are involved in mucosal response at early injury and restitution during healing in DSS-induced colitis in mice. 28535907 2017
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.010 GeneticVariation disease BEFREE For rs62025270, the allele A associated with increased susceptibility to IPF was also associated with increased expression of AKAP13 mRNA in lung tissue from patients who had lung resection procedures (n=1111). 29066090 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.010 Biomarker disease BEFREE In contrast, three hub genes including PLEKHG5 (T2D: OR=1, P=1; CAD: OR=1.12, P=0.006), TIAM1 (T2D: OR=1, P=1; CAD: OR=1.48, P=0.004) and AKAP13 (T2D: OR=1, P=1; CAD: OR=1.38, P=0.001) were hub genes unique to CAD. 24508273 2014