DisGeNET - a database of gene-disease associations

MYO3A, myosin IIIA, 53904

N. diseases: 11; N. variants: 10

Disease: Deafness, Autosomal Recessive 30 ×

Variant: rs1564544199 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1564544199

1.000

0.120

26096590

stop gained

A/T

snv

CUI:	C1846784
Disease:	Deafness, Autosomal Recessive 30

Deafness, Autosomal Recessive 30

Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases

0.700