Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 GeneticVariation disease UNIPROT Our data indicate that MYO5B mutations are a major cause of microvillus inclusion disease and that MYO5B knock-down recapitulates most of the cellular phenotype in vitro, thus independently showing loss of MYO5B function as the cause of microvillus inclusion disease. 20186687 2010
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 GermlineCausalMutation disease ORPHANET Our data indicate that MYO5B mutations are a major cause of microvillus inclusion disease and that MYO5B knock-down recapitulates most of the cellular phenotype in vitro, thus independently showing loss of MYO5B function as the cause of microvillus inclusion disease. 20186687 2010
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 GeneticVariation disease UNIPROT Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234 2008
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 Biomarker disease GENOMICS_ENGLAND In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID. 18724368 2008
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 GeneticVariation disease CLINVAR In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID. 18724368 2008
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 Biomarker disease GENOMICS_ENGLAND Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234 2008
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 CausalMutation disease CLINVAR In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID. 18724368 2008
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 GeneticVariation disease BEFREE Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234 2008
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 GeneticVariation disease UNIPROT In addition, mislocalization of transferrin receptor in MVID enterocytes suggests that MYO5B deficiency causes defective trafficking of apical and basolateral proteins in MVID. 18724368 2008
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
1.000 Biomarker disease CTD_human