MYO5B, myosin VB, 4645

N. diseases: 60; N. variants: 21
Disease: Secretory diarrhea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea 		0.130 GeneticVariation disease BEFREE Loss-of-function mutations in the nonconventional myosin Vb (Myo5b) result in microvillus inclusion disease (MVID) and massive secretory diarrhea that often begins at birth. 31664880 2019
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea 		0.130 GeneticVariation disease BEFREE Inactivating mutations in MYO5B causes depolarization of enterocytes in the small intestine, which gives rise to chronic, unremitting secretory diarrhea. 29218485 2018
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea 		0.130 GeneticVariation disease BEFREE Microvillus inclusion disease (MVID) is an autosomal recessive condition resulting in intractable secretory diarrhea in newborns due to loss-of-function mutations in myosin Vb (Myo5b). 25258405 2014
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea 		0.130 GeneticVariation disease CLINVAR