Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GeneticVariation disease BEFREE Cantu Syndrome (CS) is a complex disorder caused by gain-of-function (GoF) mutations in ABCC9 and KCNJ8, which encode the SUR2 and Kir6.1 subunits, respectively, of vascular smooth muscle (VSM) KATP channels. 31821173 2020
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GeneticVariation disease BEFREE Cantú syndrome (CS), characterized by hypertrichosis, distinctive facial features, and complex cardiovascular abnormalities, is caused by pathogenic variants in ABCC9 and KCNJ8 genes. 31175705 2019
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GeneticVariation disease BEFREE Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (K<sub>ATP</sub> ) channels, respectively. 31828977 2019
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 Biomarker disease BEFREE Activating mutations in the ABCC9 and, less commonly, KCNJ8 genes-representing the two subunits of the ATP-sensitive potassium channel-have been linked with Cantú syndrome. 29327300 2018
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 Biomarker disease CTD_human Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. 28842488 2017
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GeneticVariation disease UNIPROT Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel. 28842488 2017
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GeneticVariation disease BEFREE Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in genes encoding pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) KATP channel subunits. 27247394 2016
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GermlineCausalMutation disease ORPHANET Cantú syndrome resulting from activating mutation in the KCNJ8 gene. 24700710 2014
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GeneticVariation disease UNIPROT Cantú syndrome resulting from activating mutation in the KCNJ8 gene. 24700710 2014
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GeneticVariation disease BEFREE We screened KCNJ8 in an ABCC9 mutation-negative patient who also exhibited clinical hallmarks of CS (hypertrichosis, macrosomia, macrocephaly, coarse facial appearance, cardiomegaly, and skeletal abnormalities). 24700710 2014
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GermlineCausalMutation disease ORPHANET Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. 24176758 2013
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GeneticVariation disease BEFREE Here, we report on a patient with a de novo nonsynonymous KCNJ8 SNV (p.V65M) and Cantú syndrome, who tested negative for mutations in ABCC9. 24176758 2013
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.670 GeneticVariation disease UNIPROT Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. 24176758 2013
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.520 Biomarker disease CLINGEN Role of ATP-sensitive K+ channels in cardiac arrhythmias. 24367007 2014
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.520 Biomarker disease CLINGEN The same missense mutation, p.Ser422Leu (c.1265C>T) in KCNJ8, was identified in 3 BrS and 1 ERS probands but was absent in 430 alleles from ethnically matched healthy controls. 22056721 2012
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.520 Biomarker disease CLINGEN Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. 22840528 2012
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.520 Biomarker disease BEFREE Direct sequencing of KCNJ8 and other candidate genes was performed on 204 BrS and ERS probands and family members. 22056721 2012
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.520 SusceptibilityMutation disease ORPHANET The same missense mutation, p.Ser422Leu (c.1265C>T) in KCNJ8, was identified in 3 BrS and 1 ERS probands but was absent in 430 alleles from ethnically matched healthy controls. 22056721 2012
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.520 GeneticVariation disease BEFREE Using polymerase chain reaction, denaturing high-performance liquid chromatography, and direct DNA sequencing, comprehensive open reading frame/splice site mutational analysis of KCNJ8 was performed in 101 unrelated patients with J-wave syndromes, including 87 with BrS and 14 with ERS. 20558321 2010
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.520 Biomarker disease CLINGEN Using polymerase chain reaction, denaturing high-performance liquid chromatography, and direct DNA sequencing, comprehensive open reading frame/splice site mutational analysis of KCNJ8 was performed in 101 unrelated patients with J-wave syndromes, including 87 with BrS and 14 with ERS. 20558321 2010
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.520 Biomarker disease CLINGEN Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. 19120683 2009
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.520 Biomarker disease CLINGEN Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1. 11984590 2002
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, comprehensive open reading frame/splice-site mutational analysis of KCNJ8 was performed on genomic DNA isolated from necropsy tissue on 292 unrelated SIDS cases (178 males, 204 white; age, 2.9±1.9 months). 21836131 2011
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.510 GeneticVariation disease BEFREE Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, comprehensive open reading frame/splice-site mutational analysis of KCNJ8 was performed on genomic DNA isolated from necropsy tissue on 292 unrelated SIDS cases (178 males, 204 white; age, 2.9±1.9 months). 21836131 2011
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.510 GeneticVariation disease UNIPROT Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, comprehensive open reading frame/splice-site mutational analysis of KCNJ8 was performed on genomic DNA isolated from necropsy tissue on 292 unrelated SIDS cases (178 males, 204 white; age, 2.9±1.9 months). 21836131 2011