Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		0.010 GeneticVariation 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