DisGeNET - a database of gene-disease associations

Source: UNIPROT

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:

rs104894095

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs104894094

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs878853650

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs876658534

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs760640852

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs758389471

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs749714198

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs746834149

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs587778189

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs1554653960

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs11552822

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

11506491

2001

dbSNP:

rs878853647

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs137854599

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs137854597

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs104894099

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs104894098

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs104894097

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs104894095

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs104894094

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs878853650

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs876658534

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs760640852

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs758389471

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs749714198

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003

dbSNP:

rs746834149

CDKN2A

CUI:	C1835044
Disease:	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

14646619

2003