DisGeNET - a database of gene-disease associations

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4, C1838333

Variant: rs200640585 ×

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:

rs200640585

PMS2

0.700

CausalMutation

CLINVAR

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

25637381

2015

dbSNP:

rs200640585

PMS2

0.700

CausalMutation

CLINVAR

Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

25477341

2015

dbSNP:

rs200640585

PMS2

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs200640585

PMS2

0.700

CausalMutation

CLINVAR

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

23709753

2013

dbSNP:

rs200640585

PMS2

0.700

CausalMutation

CLINVAR

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

20205264

2010