Disease: Cantu syndrome ×
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