DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Hereditary Melanoma ×

Variant: rs878853647 ×

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:

rs878853647

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.710

CausalMutation

CLINVAR

Classifying variants of CDKN2A using computational and laboratory studies.

21462282

2011

dbSNP:

rs878853647

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.710

CausalMutation

CLINVAR

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

19260062

2009

dbSNP:

rs878853647

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.710

CausalMutation

CLINVAR

Familial head and neck cancer: molecular analysis of a new clinical entity.

12352668

2002

dbSNP:

rs878853647

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.710

CausalMutation

CLINVAR

Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors.

10491434

1999

dbSNP:

rs878853647

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.710

CausalMutation

CLINVAR

Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.

10498896

1999

dbSNP:

rs878853647

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.710

CausalMutation

CLINVAR

CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

10874641

1999

dbSNP:

rs878853647

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.710

CausalMutation

CLINVAR

Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma.

8668202

1996

dbSNP:

rs878853647

CDKN2A

CUI:	C1512419
Disease:	Hereditary Melanoma

Hereditary Melanoma

0.710

CausalMutation

CLINVAR

Germline p16 mutations in familial melanoma.

7987387

1994