MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
Disease: Fetal megacystis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553787823
rs1553787823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C2931117
Disease:
Fetal megacystis 		TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017