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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.110 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
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: C0424678
Disease: Lean body mass
Lean body mass 		0.100 GeneticVariation phenotype GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C0877208
Disease: Peripartum cardiomyopathy
Peripartum cardiomyopathy 		0.100 GeneticVariation phenotype GWASDB Genome-wide significance and replication of the chromosome 12p11.22 locus near the PTHLH gene for peripartum cardiomyopathy. 21665988 2011
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: 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: 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation disease BEFREE The 4-year survival for MDS patients was 23% +/- 7% (s.e.), vs 50% +/- 18% (s.e.) for AML-LBC (P=0.048). 9009082 1997
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 GeneticVariation phenotype BEFREE Amplification in the AKAP13 region was demonstrated in 42.9% and 15.4% of the cases with local or with distant metastasis, respectively, while no amplification was detected in non-metastatic cases. 22161024 2012
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: 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
CUI: C4290046
Disease: trachomatis
trachomatis 		0.010 GeneticVariation disease BEFREE The p47 GTPases Igtp and Irgb10 map to the Chlamydia trachomatis susceptibility locus Ctrq-3 and mediate cellular resistance in mice. 16959883 2006
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 Biomarker disease BEFREE Because AKAP plays a major role in protein kinase A and Rho protein mediated signaling, functional studies are underway to elucidate the significance of tTG-AKAP13 interaction in prostate cancer. 16301118 2006
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.310 Biomarker disease CTD_human We validated ZBTB20, CELF2, PARD3, AKAP13 and WAC, which were identified by our screens in multiple cancer types, as new tumor suppressor genes in prostate cancer. 28319090 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011