DisGeNET - a database of gene-disease associations

USHER SYNDROME, TYPE IIA, C1848634

Gene: USH2A ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs111033262

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs111033275

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs111033381

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs111033439

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs111033450

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs113447586

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs1308924086

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs1393503590

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs1423536179

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs142381713

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs1424639717

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs1453306308

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs145771342

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs1553250805

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs1553252475

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs182741276

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs199851839

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs201238640

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs201863550

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs35730265

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs35818432

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs373599651

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs397518026

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs41277210

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013

dbSNP:

rs41277212

USH2A

0.700

GeneticVariation

UNIPROT

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

23737954

2013