DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs1131691026 ×

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:

rs1131691026

TP53

0.700

CausalMutation

CLINVAR

Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers.

24382691

2014

dbSNP:

rs1131691026

TP53

0.700

CausalMutation

CLINVAR

Early onset HER2-positive breast cancer is associated with germline TP53 mutations.

21761402

2012

dbSNP:

rs1131691026

TP53

0.700

CausalMutation

CLINVAR

The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube.

19834951

2010

dbSNP:

rs1131691026

TP53

0.700

CausalMutation

CLINVAR

Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.

20198344

2010