Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease BEFREE A careful screening of the KATP genes should be performed in all individuals diagnosed with Cantú syndrome and no mutation in ABCC9. 24176758 2013
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease BEFREE Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in K<sub>ATP</sub> channel gain-of-function by differential mechanisms. 29275331 2018
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease BEFREE Gain-of-function (GOF) mutations in the KATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease characterized by multiple cardiovascular abnormalities. 26142302 2015
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 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 		0.800 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 		0.800 GeneticVariation disease BEFREE Cantú syndrome is caused by mutations in ABCC9. 22608503 2012
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease UNIPROT Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116 2012
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease BEFREE Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience. 31175705 2019
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease BEFREE To investigate pathophysiologic mechanisms in CS we have used CRISPR/Cas9 engineering to introduce CS-associated SUR2[A478V] and Kir6.1[V65M] mutations to the equivalent endogenous loci in mice. 30089727 2018
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 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 		0.800 GeneticVariation disease BEFREE Therefore, we propose that ABCC9 mutations lead to a spectrum of phenotypes formerly known as Cantú syndrome, HAFF and AFA, which may not be clearly distinguishable by clinical criteria, and that all patients with clinical signs belonging to this spectrum should be revisited and offered ABCC9 mutation analysis. 23307537 2013
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease BEFREE Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. 26621776 2015
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 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 		0.800 GeneticVariation disease UNIPROT Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. 26621776 2015
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease UNIPROT Cantú syndrome is caused by mutations in ABCC9. 22608503 2012
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 GeneticVariation disease CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 GeneticVariation disease CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537 2013
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 GeneticVariation disease CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116 2012
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 GeneticVariation disease UNIPROT ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580 2004
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		0.700 GeneticVariation disease UNIPROT KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405 2007
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.420 GeneticVariation group BEFREE KATP channelopathies implicated in patients with mechanical and/or electrical heart disease include dilated cardiomyopathy (with ventricular arrhythmia; CMD1O) and adrenergic atrial fibrillation. 20033705 2010
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.420 GeneticVariation group LHGDN ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580 2004
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.420 GeneticVariation group BEFREE ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580 2004
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.400 GeneticVariation group CLINVAR Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. 23103869 2012