rs387907208, ABCC9

N. diseases: 5
Disease: Cantu syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cantu syndrome
CUI: C0795905
Disease: Cantu syndrome
0.800 GeneticVariation UNIPROT Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. 26621776 2015
Cantu syndrome
CUI: C0795905
Disease: Cantu syndrome
0.800 GeneticVariation UNIPROT Cantú syndrome is caused by mutations in ABCC9. 22608503 2012
Cantu syndrome
CUI: C0795905
Disease: Cantu syndrome
0.800 GeneticVariation UNIPROT Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116 2012
Cantu syndrome
CUI: C0795905
Disease: Cantu syndrome
0.800 CausalMutation CLINVAR