AKAP9, A-kinase anchoring protein 9, 10142

N. diseases: 60; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease GENOMICS_ENGLAND AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. 25087618 2014
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 GeneticVariation disease UNIPROT Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 18093912 2007
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease CLINGEN Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 18093912 2007
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease CLINGEN Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. 11799244 2002
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease GENOMICS_ENGLAND Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. 11799244 2002
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 GeneticVariation disease CLINVAR
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease CTD_human
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 AlteredExpression disease BEFREE In the present study, we investigated the molecular mechanism by which MALAT1 enhances AKAP9 expression in CRC SW480 cells. 26887056 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 GeneticVariation disease BEFREE Our data indicate that AKAP9 gene harbors not only somatic frameshift mutations but also mutational ITH, which together may be features of GC and CRC with MSI-H. Our results also suggest that regional mutation analysis is needed for a better evaluation of mutation status in these tumors to overcome ITH. 26786868 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 AlteredExpression disease BEFREE CIP4 levels were interrelated to the AKAP-9 level in CRC cells. 27039663 2016
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 GeneticVariation disease BEFREE One SNP AKAP9 M463I remained significantly associated with CRC risk after stringent adjustment for multiple testing. 17000706 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.340 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 Biomarker disease BEFREE We report that EPAC1, PKA, and AKAP9 along with other molecular partners are amplified in breast cancer patients, indicating the importance of this signaling network. 28210903 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 GeneticVariation disease BEFREE Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-rs6964587" genes_norm="10142">M463I) is associated with breast cancer risk. 21931171 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 GeneticVariation disease BEFREE Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis. 18334708 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 GeneticVariation disease UNIPROT
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.310 Biomarker disease BEFREE Brugada syndrome & AKAP9: Reconciling clinical findings with diagnostic uncertainty. 31654968 2019
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.310 GeneticVariation disease ORPHANET The role of clinical, genetic and segregation evaluation in sudden infant death. 25016126 2014
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.300 Biomarker group CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0274861
Disease: Arsenic Poisoning, Inorganic
Arsenic Poisoning, Inorganic 		0.300 Biomarker disease CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0274862
Disease: Nervous System, Organic Arsenic Poisoning
Nervous System, Organic Arsenic Poisoning 		0.300 Biomarker disease CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0311375
Disease: Arsenic Poisoning
Arsenic Poisoning 		0.300 Biomarker disease CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0751851
Disease: Arsenic Encephalopathy
Arsenic Encephalopathy 		0.300 Biomarker disease CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006