DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Melanoma astrocytoma syndrome ×

Gene: CDKN2A ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1029
Gene Symbol:	CDKN2A

CDKN2A

CUI:	C1835042
Disease:	Melanoma astrocytoma syndrome

Melanoma astrocytoma syndrome

0.610

GeneticVariation

ORPHANET

A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family.

2001