DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs587779822 ×

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:

rs587779822

ATM

0.700

CausalMutation

CLINVAR

ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.

21993670

2012

dbSNP:

rs587779822

ATM

0.700

CausalMutation

CLINVAR

ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

15843990

2005

dbSNP:

rs587779822

ATM

0.700

CausalMutation

CLINVAR

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

9887333

1999

dbSNP:

rs587779822

ATM

0.700

CausalMutation

CLINVAR

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

10330348

1999

dbSNP:

rs587779822

ATM

0.700

CausalMutation

CLINVAR

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

9443866

1998