DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs104894099 ×

Source: ALL

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:

rs104894099

CDKN2A

0.700

GeneticVariation

CLINVAR

Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

21893440

2011

dbSNP:

rs104894099

CDKN2A

0.700

GeneticVariation

CLINVAR

Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer.

19571771

2009

dbSNP:

rs104894099

CDKN2A

0.700

GeneticVariation

CLINVAR

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

16905682

2007

dbSNP:

rs104894099

CDKN2A

0.700

GeneticVariation

CLINVAR

Role of the CDKN2A locus in patients with multiple primary melanomas.

15860862

2005

dbSNP:

rs104894099

CDKN2A

0.700

GeneticVariation

CLINVAR

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.

12700603

2003

dbSNP:

rs104894099

CDKN2A

0.700

GeneticVariation

CLINVAR

CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

10874641

1999

dbSNP:

rs104894099

CDKN2A

0.700

GeneticVariation

CLINVAR

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

9425228

1998

dbSNP:

rs104894099

CDKN2A

0.700

GeneticVariation

CLINVAR

The p16INK4a/CDKN2A tumor suppressor and its relatives.

9823374

1998