DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: USHER SYNDROME, TYPE IB (disorder) ×

Gene: USH1C ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	10083
Gene Symbol:	USH1C

USH1C

USH1 protein network component harmonin

0.628

0.538

4.0E-18

CUI:	C1848638
Disease:	USHER SYNDROME, TYPE IB (disorder)

USHER SYNDROME, TYPE IB (disorder)

disease

0.300

definitive

1.000

0

2000

2010