DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: USHER SYNDROME, TYPE IB (disorder) ×

Gene: PCDH15 ×

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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:	65217
Gene Symbol:	PCDH15

PCDH15

protocadherin related 15

0.601

0.577

8.0E-25

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

USHER SYNDROME, TYPE IB (disorder)

disease

0.300

definitive

1.000

0

2001

2005