DisGeNET - a database of gene-disease associations

Hirschsprung Disease, C0019569

Variant: rs77316810 ×

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:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Founder Effect of the RET^C611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.

29020875

2017

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.

27207748

2016

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation.

27847096

2016

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Skewed mutational spectrum of RET proto-oncogene Exon10 in Iranian patients with medullary thyroid carcinoma.

25694125

2015

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.

24972642

2014

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Thyroid cancer and co-occurring RET mutations in Hirschsprung disease.

23744765

2013

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.

21986619

2012

dbSNP:

rs77316810

RET

0.760

GeneticVariation

BEFREE

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

22584707

2012

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.

21765987

2011

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

20979234

2011

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

20979234

2011

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease.

19853744

2009

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

19336503

2009

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Medullary thyroid cancer: management guidelines of the American Thyroid Association.

19469690

2009

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.

18206480

2008

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

To investigate the dual role of such RET mutations, a mouse model with a targeted mutation ret(C620R) was generated. ret(C620R/C620R) offspring die during the first postnatal day, and show kidney agenesis and intestinal aganglionosis.

17372903

2007

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

The Ret(C620R) mutation affects renal and enteric development in a mouse model of Hirschsprung's disease.

16565500

2006

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2.

14718397

2004

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease.

14715928

2004

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients.

11502806

2001

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

10790203

2000

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.

11073534

2000

dbSNP:

rs77316810

RET

0.760

GeneticVariation

BEFREE

This family added a novel RET missense mutation (C620S) predisposing to the association of MEN 2A and Hirschsprung's disease.

10549772

1999

dbSNP:

rs77316810

RET

0.760

CausalMutation

CLINVAR

Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.

9879991

1998

dbSNP:

rs77316810

RET

0.760

GeneticVariation

BEFREE

In this report, we describe a new kindred in which the MEN2 and HSCR phenotypes are associated with a single C620S point mutation at one of the cysteine codons of the extracellular domain of the ret protooncogene.

9745455

1998