MYBPC1, myosin binding protein C1, 4604

N. diseases: 51; N. variants: 16
Disease: Tremor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040822
Disease: Tremor
Tremor 		0.120 GeneticVariation phenotype BEFREE Collectively, our data substantiate that damaging variants in MYBPC1 are associated with a new form of an early-onset myopathy with tremor, which is a defining and consistent characteristic in all affected individuals, with no contractures. 31264822 2019
CUI: C0040822
Disease: Tremor
Tremor 		0.120 GeneticVariation phenotype BEFREE Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy. 31025394 2019
CUI: C0040822
Disease: Tremor
Tremor 		0.120 GeneticVariation phenotype CLINVAR
CUI: C0040822
Disease: Tremor
Tremor 		0.120 CausalMutation phenotype CLINVAR