DisGeNET - a database of gene-disease associations

Source: ALL

Disease: MELANOMA-PANCREATIC CANCER SYNDROME ×

Gene: CDKN2A ×

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:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

26681309

2016

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

26775776

2016

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome.

26381259

2015

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

GeneticVariation

UNIPROT

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

25645574

2015

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

Classifying variants of CDKN2A using computational and laboratory studies.

21462282

2011

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

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

20340136

2010

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

19260062

2009

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.

10869234

2000

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

Functional reassessment of P16 variants using a transfection-based assay.

10389768

1999

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

Mutations associated with familial melanoma impair p16INK4 function.

7647780

1995

dbSNP:

rs104894094

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.800

CausalMutation

CLINVAR

Germline p16 mutations in familial melanoma.

7987387

1994

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

Improving performance of multigene panels for genomic analysis of cancer predisposition.

26845104

2016

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

GESPA: classifying nsSNPs to predict disease association.

26206375

2015

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.

23190892

2013

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.

21801156

2011

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

Classifying variants of CDKN2A using computational and laboratory studies.

21462282

2011

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

21150883

2011

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

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

20340136

2010

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

CDKN2A germline mutations in individuals with cutaneous malignant melanoma.

17218939

2007

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

15146471

2004

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome.

11815963

2002

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

11556834

2001

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

CDKN2A mutations in multiple primary melanomas.

9516223

1998

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

GeneticVariation

CLINVAR

CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas.

9699728

1998

dbSNP:

rs104894097

CDKN2A

CUI:	C1838547
Disease:	MELANOMA-PANCREATIC CANCER SYNDROME

MELANOMA-PANCREATIC CANCER SYNDROME

0.700

CausalMutation

CLINVAR