MYOCD, myocardin, 93649

N. diseases: 79; N. variants: 7
Disease: Congenital heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.310 Biomarker group GENOMICS_ENGLAND Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. 31513549 2019
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.310 Biomarker group GENOMICS_ENGLAND Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. 31513549 2019
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.310 GeneticVariation group BEFREE We identified a rare human sequence variation in MYOCD in a patient with congenital heart disease that resulted in a missense mutation at codon 259 (K259R). 18852265 2008