DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Basal Cell Nevus Syndrome ×

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:	5727
Gene Symbol:	PTCH1

PTCH1

patched 1

0.398

0.885

1.00

CUI:	C0004779
Disease:	Basal Cell Nevus Syndrome

Basal Cell Nevus Syndrome

disease

1.000

definitive

0.994

0

1960

2020

Entrez Id:	8643
Gene Symbol:	PTCH2

PTCH2

patched 2

0.563

0.692

3.4E-16

CUI:	C0004779
Disease:	Basal Cell Nevus Syndrome

Basal Cell Nevus Syndrome

disease

0.770

limited

1.000

0

1985

2017