MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.510 GeneticVariation disease BEFREE Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.510 GermlineCausalMutation disease ORPHANET Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017