MYH14, myosin heavy chain 14, 79784

N. diseases: 64; N. variants: 9
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 Biomarker disease GENOMICS_ENGLAND Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation. 30373780 2018
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 Biomarker disease GENOMICS_ENGLAND Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family. 27875632 2017
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 Biomarker disease GENOMICS_ENGLAND Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family. 27875632 2017
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 CausalMutation disease CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 Biomarker disease GENOMICS_ENGLAND A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 21480433 2011
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 Biomarker disease GENOMICS_ENGLAND A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 21480433 2011
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 CausalMutation disease CLINVAR A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 21480433 2011
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 GeneticVariation disease BEFREE A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 21480433 2011
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 GeneticVariation disease UNIPROT A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 21480433 2011
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 GermlineCausalMutation disease ORPHANET A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 21480433 2011
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		0.710 Biomarker disease CTD_human