CHKB, choline kinase beta, 1120

N. diseases: 48; N. variants: 19
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 		0.010 GeneticVariation disease BEFREE A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene defects has been characterized by intellectual disability, autistic features, ichthyosis-like skin changes, and dilated cardiomyopathy. 26067811 2015