DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs587779866 ×

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:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

27433846

2016

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

25614872

2014

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

21833744

2011

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

16266405

2005

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

15039971

2004

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

10817650

2000

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

10980530

2000

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

10330348

1999

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

9887333

1999

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

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

9443866

1998

dbSNP:

rs587779866

ATM ; C11orf65

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR