MYO6, myosin VI, 4646

N. diseases: 66; N. variants: 22
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499799
rs1060499799
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C2931767
Disease:
Deafness, autosomal dominant nonsyndromic sensorineural 22 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912557
rs121912557
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C2931767
Disease:
Deafness, autosomal dominant nonsyndromic sensorineural 22 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912557
rs121912557
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.020 GeneticVariation BEFREE Heterozygous Myo6-C442Y mice recapitulated the progressive postlingual sensorineural deafness in human, thus providing a useful model for elucidating the role myosin VI plays in the mammalian auditory system. 31103816 2019
dbSNP: rs121912557
rs121912557
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		0.020 GeneticVariation BEFREE The missense mutation of Cys(442) to Tyr of myosin VI causes progressive postlingual sensorineural deafness. 15123708 2004
dbSNP: rs121912557
rs121912557
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Two missense mutations in MYO6 (p.C442Y and p.H246R) have been characterized in families of Italian and American Caucasian extraction with autosomal dominant hearing loss, respectively, and the latter was associated with cardiomyopathy in some patients. 18348273 2008
dbSNP: rs121912557
rs121912557
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C3711374
Disease:
Nonsyndromic Deafness 		0.010 GeneticVariation BEFREE We established a humanized knock-in mouse model, Myo6-C442Y, to mimic the p.C442Y missense variant identified in human patients with autosomal dominant nonsyndromic hearing loss designated as DFNA22. 31103816 2019
dbSNP: rs121912558
rs121912558
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C1843028
Disease:
Deafness, Autosomal Recessive 37 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912559
rs121912559
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C1843028
Disease:
Deafness, Autosomal Recessive 37 		0.700 GeneticVariation UNIPROT Mutations of MYO6 are associated with recessive deafness, DFNB37. 12687499 2003
dbSNP: rs121912560
rs121912560
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C3501265
Disease:
Deafness, Sensorineural, with Hypertrophic Cardiomyopathy 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121912560
rs121912560
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C2931767
Disease:
Deafness, autosomal dominant nonsyndromic sensorineural 22 		0.700 GeneticVariation UNIPROT Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). 15060111 2004
dbSNP: rs121912560
rs121912560
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0878544
Disease:
Cardiomyopathies 		0.010 GeneticVariation BEFREE Two missense mutations in MYO6 (p.C442Y and p.H246R) have been characterized in families of Italian and American Caucasian extraction with autosomal dominant hearing loss, respectively, and the latter was associated with cardiomyopathy in some patients. 18348273 2008
dbSNP: rs121912561
rs121912561
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C2931767
Disease:
Deafness, autosomal dominant nonsyndromic sensorineural 22 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1280049
rs1280049
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs1554218566
rs1554218566
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C1843156
Disease:
Progressive sensorineural hearing impairment 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554218566
rs1554218566
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C2931767
Disease:
Deafness, autosomal dominant nonsyndromic sensorineural 22 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1562201376
rs1562201376
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C1843028
Disease:
Deafness, Autosomal Recessive 37 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs1562283089
rs1562283089
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C2931767
Disease:
Deafness, autosomal dominant nonsyndromic sensorineural 22 		G 0.700 CausalMutation CLINVAR
dbSNP: rs2295938
rs2295938
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs2312933
rs2312933
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs3798440
rs3798440
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0020538
Disease:
Hypertensive disease 		0.700 GeneticVariation GWASDB Two-marker association tests yield new disease associations for coronary artery disease and hypertension. 21626137 2011
dbSNP: rs6453843
rs6453843
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs727503326
rs727503326
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C2931767
Disease:
Deafness, autosomal dominant nonsyndromic sensorineural 22 		T 0.700 CausalMutation CLINVAR
dbSNP: rs727503326
rs727503326
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C1843028
Disease:
Deafness, Autosomal Recessive 37 		T 0.700 CausalMutation CLINVAR
dbSNP: rs727504567
rs727504567
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C2931767
Disease:
Deafness, autosomal dominant nonsyndromic sensorineural 22 		T 0.700 CausalMutation CLINVAR
dbSNP: rs876657911
rs876657911
Entrez Id: 4646
Gene Symbol: MYO6
MYO6
CUI: C2931767
Disease:
Deafness, autosomal dominant nonsyndromic sensorineural 22 		0.010 GeneticVariation BEFREE The MYO6 gene was selected to be sequenced because of similarities with other, previously described DFNA22 phenotypes and a pathogenic c.3610C > T (p.R1204W) mutation was found to co-segregate with the disease. 23340379 2013