Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555648414
rs1555648414
MYO5B
0.700 GeneticVariation UNIPROT Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity. 24138727

2014
dbSNP: rs1555648414
rs1555648414
MYO5B
0.700 GeneticVariation UNIPROT Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. 24892806

2014
dbSNP: rs1555648414
rs1555648414
MYO5B
0.700 GeneticVariation UNIPROT Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease. 21206382

2011
dbSNP: rs1555648414
rs1555648414
MYO5B
0.700 GeneticVariation UNIPROT Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. 20186687

2010
dbSNP: rs1555648414
rs1555648414
MYO5B
0.700 GeneticVariation UNIPROT MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008
dbSNP: rs1555648414
rs1555648414
MYO5B
0.700 GeneticVariation UNIPROT Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

2008