KANSL1, KAT8 regulatory NSL complex subunit 1, 284058

N. diseases: 140; N. variants: 332
Disease: Coronary heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE These results show that a KANSL1 microduplication, in combination with the 22q11.2 deletion, is associated with increased risk of CHD in these patients, suggesting that KANSL1 plays a role as a modifier gene in 22q11.2DS patients. 28496102 2017