DisGeNET - a database of gene-disease associations

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3, C1836892

Variant: rs11547328 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs11547328

CDK4

0.800

CausalMutation

CLINVAR

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants.

23384855

2013

dbSNP:

rs11547328

CDK4

0.800

CausalMutation

CLINVAR

MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients.

22804906

2012

dbSNP:

rs11547328

CDK4

0.800

CausalMutation

CLINVAR

Identification of CDK4 sequences involved in cyclin D1 and p16 binding.

9228064

1997

dbSNP:

rs11547328

CDK4

0.800

CausalMutation

CLINVAR

Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.

8528263

1996

dbSNP:

rs11547328

CDK4

0.800

CausalMutation

CLINVAR

A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma.

7652577

1995

dbSNP:

rs11547328

CDK4

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs11547328

CDK4

0.800

GeneticVariation

UNIPROT