MYO3A, myosin IIIA, 53904

N. diseases: 11; N. variants: 10
Disease: Deafness, Autosomal Recessive 30 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		0.810 AlteredExpression disease BEFREE Myo3a is expressed in cochlear hair cells and retinal cells and is responsible for human recessive hereditary nonsyndromic deafness (DFNB30). 30123247 2018
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		0.810 Biomarker disease MGD A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. 21165622 2011
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		0.810 Biomarker disease GENOMICS_ENGLAND A mouse model for human hearing loss DFNB30 due to loss of function of myosin IIIA. 21165622 2011
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		0.810 Biomarker disease CTD_human
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		0.810 CausalMutation disease CLINVAR
CUI: C1846784
Disease: Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 30 		0.810 GeneticVariation disease CLINVAR