DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Hereditary Melanoma ×

Variant: rs104894099 ×

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:

rs104894099

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.700

CausalMutation

CLINVAR

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

26681309

2016

dbSNP:

rs104894099

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.700

CausalMutation

CLINVAR

Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

22841127

2012

dbSNP:

rs104894099

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.700

CausalMutation

CLINVAR

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

21893440

2011

dbSNP:

rs104894099

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.700

CausalMutation

CLINVAR

Novel CDKN2A mutation detected in Spanish melanoma pedigree.

20653773

2010

dbSNP:

rs104894099

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.700

CausalMutation

CLINVAR

Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

19799798

2009

dbSNP:

rs104894099

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.700

CausalMutation

CLINVAR

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

19571771

2009

dbSNP:

rs104894099

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.700

CausalMutation

CLINVAR

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

15146471

2004

dbSNP:

rs104894099

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.700

CausalMutation

CLINVAR

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

12700603

2003

dbSNP:

rs104894099

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.700

CausalMutation

CLINVAR

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

9425228

1998