DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs121908381 ×

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:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.

28533537

2017

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

27194394

2016

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Inactivating MUTYH germline mutations in pediatric patients with high-grade midline gliomas.

26902849

2016

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing.

25590978

2015

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

19032956

2009

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

19732775

2009

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin.

17874208

2008

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

18534194

2008

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer.

17369389

2007

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.

15635083

2005

dbSNP:

rs121908381

MUTYH

0.700

CausalMutation

CLINVAR

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

12853198

2003

dbSNP: