DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs121434220 ×

Source: INFERRED ×

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:

rs121434220

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

26822949

2016

dbSNP:

rs121434220

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

24556621

2014

dbSNP:

rs121434220

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

15101044

2004

dbSNP:

rs121434220

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

10817650

2000

dbSNP:

rs121434220

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

9887333

1999

dbSNP:

rs121434220

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

8808599

1996