MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
Disease: Microcolon ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266200
Disease: Microcolon
Microcolon 		0.100 CausalMutation disease CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
CUI: C0266200
Disease: Microcolon
Microcolon 		0.100 Biomarker disease HPO