DisGeNET - a database of gene-disease associations

ATAXIA-TELANGIECTASIA-LIKE DISORDER, C1858391

Variant: rs759130031 ×

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:

rs759130031

MRE11

0.700

CausalMutation

CLINVAR

Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.

29348823

2017

dbSNP:

rs759130031

MRE11

0.700

CausalMutation

CLINVAR

Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.

23912341

2013

dbSNP:

rs759130031

MRE11

0.700

CausalMutation

CLINVAR

Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.

23080121

2012

dbSNP:

rs759130031

MRE11

0.700

CausalMutation

CLINVAR

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

21227757

2011