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:

rs113798404

CDKN2A

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

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1064794292

CDKN2A

CUI:	C0025202
Disease:	melanoma

melanoma

0.710

GeneticVariation

UNIPROT

dbSNP:

rs760065045

CDKN2A

CUI:	C0005426
Disease:	Biliary Tract Neoplasm

Biliary Tract Neoplasm

0.700

GeneticVariation

UNIPROT

dbSNP:

rs757497674

CDKN2A

CUI:	C0007131
Disease:	Non-Small Cell Lung Carcinoma

Non-Small Cell Lung Carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs754806883

CDKN2A

CUI:	C0007131
Disease:	Non-Small Cell Lung Carcinoma

Non-Small Cell Lung Carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs747621669

CDKN2A

CUI:	C0014859
Disease:	Esophageal Neoplasms

Esophageal Neoplasms

0.700

GeneticVariation

UNIPROT

dbSNP:

rs6413464

CDKN2A

CUI:	C0007137
Disease:	Squamous cell carcinoma

Squamous cell carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs6413463

CDKN2A

CUI:	C0023418
Disease:	leukemia

leukemia

0.700

GeneticVariation

UNIPROT

dbSNP:

rs372266620

CDKN2A

CUI:	C0235974
Disease:	Pancreatic carcinoma

Pancreatic carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs36204594

CDKN2A

CUI:	C0025202
Disease:	melanoma

melanoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs199907548

CDKN2A

CUI:	C0005426
Disease:	Biliary Tract Neoplasm

Biliary Tract Neoplasm

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121913386

CDKN2A

CUI:	C0007131
Disease:	Non-Small Cell Lung Carcinoma

Non-Small Cell Lung Carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121913385

CDKN2A

CUI:	C0030297
Disease:	Pancreatic Neoplasm

Pancreatic Neoplasm

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121913381

CDKN2A

CUI:	C0027533
Disease:	Neck Neoplasms

Neck Neoplasms

0.700

GeneticVariation

UNIPROT

dbSNP:

rs116150891

CDKN2A

CUI:	C0007137
Disease:	Squamous cell carcinoma

Squamous cell carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs11552822

CDKN2A

CUI:	C0014859
Disease:	Esophageal Neoplasms

Esophageal Neoplasms

0.700

GeneticVariation

UNIPROT

dbSNP:

rs113798404

CDKN2A

CUI:	C0005426
Disease:	Biliary Tract Neoplasm

Biliary Tract Neoplasm

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1064794292

CDKN2A

CUI:	C0030297
Disease:	Pancreatic Neoplasm

Pancreatic Neoplasm

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1057519883

CDKN2A

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

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2

0.700

GeneticVariation

UNIPROT

dbSNP:

rs878853647

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:

rs137854599

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:

rs137854597

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:

rs104894099

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:

rs104894098

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:

rs104894097

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