DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs587779872 ×

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:

rs587779872

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

28195393

2017

dbSNP:

rs587779872

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Ataxia telangiectasia: more variation at clinical and cellular levels.

25040471

2015

dbSNP:

rs587779872

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

HBOC multi-gene panel testing: comparison of two sequencing centers.

26022348

2015

dbSNP:

rs587779872

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

18634022

2009

dbSNP:

rs587779872

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

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

10817650

2000

dbSNP:

rs587779872

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

10873394

2000

dbSNP:

rs587779872

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

9443866

1998