DisGeNET - a database of gene-disease associations

Ataxia Telangiectasia, C0004135

Variant: rs587781905 ×

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:

rs587781905

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

New mutations in the ATM gene and clinical data of 25 AT patients.

21965147

2011

dbSNP:

rs587781905

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

19691550

2009

dbSNP:

rs587781905

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

16941484

2006

dbSNP:

rs587781905

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

17124347

2006

dbSNP:

rs587781905

ATM ; C11orf65

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:

rs587781905

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

12815592

2003

dbSNP:

rs587781905

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Predominance of null mutations in ataxia-telangiectasia.

8845835

1996