DisGeNET - a database of gene-disease associations

MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194

Disease: USHER SYNDROME, TYPE IB (disorder) ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121965083

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.710

GeneticVariation

BEFREE

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

9843659

1998

dbSNP:

rs121965083

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.710

CausalMutation

CLINVAR

dbSNP:

rs121965079

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs121965080

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs121965082

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs121965085

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555062984

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs28934610

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs35689081

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs41298133

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs750647872

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555067667

Entrez Id:	4647
Gene Symbol:	MYO7A

MYO7A

CUI:	C1848638
Disease:

USHER SYNDROME, TYPE IB (disorder)

0.010

GeneticVariation

BEFREE

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.

9703432

1998