MYH14, myosin heavy chain 14, 79784

N. diseases: 64; N. variants: 9
Disease: Deafness, Autosomal Dominant 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940306
rs28940306
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		0.800 GeneticVariation UNIPROT Genetic heterogeneity of deafness phenotypes linked to DFNA4. 16222661 2005
dbSNP: rs28940307
rs28940307
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		0.800 GeneticVariation UNIPROT Genetic heterogeneity of deafness phenotypes linked to DFNA4. 16222661 2005
dbSNP: rs28940306
rs28940306
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		0.800 GeneticVariation UNIPROT Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). 15015131 2004
dbSNP: rs28940307
rs28940307
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		0.800 GeneticVariation UNIPROT Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). 15015131 2004
dbSNP: rs28940306
rs28940306
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28940307
rs28940307
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs367588704
rs367588704
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		A 0.700 GeneticVariation CLINVAR Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. 30828794 2019
dbSNP: rs119103279
rs119103279
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs119103280
rs119103280
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		0.700 GeneticVariation UNIPROT
dbSNP: rs119103281
rs119103281
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
CUI: C1833503
Disease:
Deafness, Autosomal Dominant 4 		T 0.700 CausalMutation CLINVAR