DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs587780668 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

25803691

2015

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

25356972

2015

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.

20340136

2010

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

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

16905682

2007

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

Population-based prevalence of CDKN2A mutations in Utah melanoma families.

16397522

2006

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families.

16307646

2005

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired.

15945100

2005

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

CDKN2A variants in a population-based sample of Queensland families with melanoma.

10070944

1999

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

CDKN2A mutations in multiple primary melanomas.

9516223

1998

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds.

9416844

1997

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

Germline mutations of the CDKN2 gene in UK melanoma families.

9328469

1997

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma.

8668202

1996

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

CausalMutation

CLINVAR

Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds.

8595405

1995

dbSNP:

rs587780668

CDKN2A

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

AGGCTCCATGCTGCTCCCCGCCGCC

0.700

GeneticVariation

CLINVAR