Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation 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
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GermlineCausalMutation 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
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation UNIPROT Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

2008

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker 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
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation 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
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker GENOMICS_ENGLAND Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

2008

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 CausalMutation 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
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation BEFREE Navajo microvillous inclusion disease is due to a mutation in MYO5B. 19006234

2008

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 GeneticVariation 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
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease
1.000 Biomarker CTD_human