DisGeNET - a database of gene-disease associations

rs111033437, MYO7A

N. diseases: 6

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Childhood onset sensorineural hearing impairment

CUI:	C4023340
Disease:	Childhood onset sensorineural hearing impairment

1

0.882

0.120

11

77179925

missense variant

G/A;T

snv

0.700

Deafness, Autosomal Dominant 11

CUI:	C1832475
Disease:	Deafness, Autosomal Dominant 11

16

0.882

0.120

11

77179925

missense variant

G/A;T

snv

0.700

Mild hearing impairment

CUI:	C4022758
Disease:	Mild hearing impairment

4

0.882

0.120

11

77179925

missense variant

G/A;T

snv

0.700

Moderate hearing impairment

CUI:	C4022757
Disease:	Moderate hearing impairment

2

0.882

0.120

11

77179925

missense variant

G/A;T

snv

0.700

Progressive sensorineural hearing impairment

CUI:	C1843156
Disease:	Progressive sensorineural hearing impairment

28

0.882

0.120

11

77179925

missense variant

G/A;T

snv

0.700

Sensorineural Hearing Loss (disorder)

CUI:	C0018784
Disease:	Sensorineural Hearing Loss (disorder)

111

0.882

0.120

11

77179925

missense variant

G/A;T

snv

0.700