DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs863225412 ×

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:

rs863225412

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.

22102614

2012

dbSNP:

rs863225412

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops.

22179786

2011

dbSNP:

rs863225412

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Mechanisms of pathogenicity in human MSH2 missense mutants.

18951462

2008

dbSNP:

rs863225412

MSH6 ; FBXO11

0.700

CausalMutation

CLINVAR

Structure of the human MutSalpha DNA lesion recognition complex.

17531815

2007