ANK1, ankyrin 1, 286

N. diseases: 166; N. variants: 49
Disease: Coronary Microvascular Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		0.040 AlteredExpression disease BEFREE Co-expressing wt and CMD-mutant ANK in cells showed that CMD-mutant ANK does not negatively affect wt ANK expression and localization, and vice versa. 30356088 2018
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		0.040 GeneticVariation disease BEFREE We performed dentofacial examination of patients with CMD and evaluated consequences of orthodontic movement in a mouse model carrying a CMD knock-in (KI) mutation (Phe377del) in the Ank gene. 24663682 2014
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		0.040 GeneticVariation disease BEFREE Here, we investigated the effects of CMD-mutant ANK on mineralization and bone mass at a cellular level. 21149338 2011
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		0.040 GeneticVariation disease BEFREE We generated the first knockin (KI) mouse model for CMD expressing a human mutation (Phe377 deletion) in ANK. 19257826 2009