Gene: MYO5B ×
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: rs121908106
rs121908106
MYO5B
0.820 GeneticVariation UNIPROT MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008
dbSNP: rs121908103
rs121908103
MYO5B
0.800 GeneticVariation UNIPROT MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008
dbSNP: rs121908105
rs121908105
MYO5B
0.800 GeneticVariation UNIPROT MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008
dbSNP: rs1555648414
rs1555648414
MYO5B
0.700 GeneticVariation UNIPROT MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008
dbSNP: rs727505394
rs727505394
MYO5B
T 0.700 CausalMutation CLINVAR MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008
dbSNP: rs727505395
rs727505395
MYO5B
T 0.700 GeneticVariation CLINVAR MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. 18724368

2008
dbSNP: rs121908103
rs121908103
MYO5B
0.800 GeneticVariation UNIPROT Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. 24892806

2014
dbSNP: rs121908105
rs121908105
MYO5B
0.800 GeneticVariation UNIPROT Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease. 24892806

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

2014
dbSNP: rs121908106
rs121908106
MYO5B
0.820 GeneticVariation UNIPROT Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

2008
dbSNP: rs121908103
rs121908103
MYO5B
0.800 GeneticVariation UNIPROT Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

2008
dbSNP: rs121908105
rs121908105
MYO5B
0.800 GeneticVariation UNIPROT Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

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

2008
dbSNP: rs121908106
rs121908106
MYO5B
0.820 GeneticVariation BEFREE These findings indicate that the effects of the P660L mutation in MYO5B in Navajo MVID patients are not limited to the small intestine, but that certain tissues may be able to compensate functionally for alterations in apical trafficking. 29218485

2018