DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs773570504 ×

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:

rs773570504

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

22213089

2012

dbSNP:

rs773570504

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

21792198

2011

dbSNP:

rs773570504

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

Clinical spectrum of ataxia-telangiectasia in adulthood.

19535770

2009

dbSNP:

rs773570504

ATM ; C11orf65

0.700

CausalMutation

CLINVAR

ATM mutations in Finnish breast cancer patients.

11897822

2002