Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study. 29020875

2017

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma. 27207748

2016

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation. 27847096

2016

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Skewed mutational spectrum of RET proto-oncogene Exon10 in Iranian patients with medullary thyroid carcinoma. 25694125

2015

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review. 24972642

2014

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Thyroid cancer and co-occurring RET mutations in Hirschsprung disease. 23744765

2013

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene. 21986619

2012

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234

2011

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma. 21765987

2011

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease. 19853744

2009

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Medullary thyroid cancer: management guidelines of the American Thyroid Association. 19469690

2009

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. 18206480

2008

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR C620R mutation of the murine ret proto-oncogene: loss of function effect in homozygotes and possible gain of function effect in heterozygotes. 17372903

2007

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR The Ret(C620R) mutation affects renal and enteric development in a mouse model of Hirschsprung's disease. 16565500

2006

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2. 14718397

2004

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 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

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients. 11502806

2001

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. 11073534

2000

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems. 10790203

2000

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines. 9879991

1998

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. 9681852

1998

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Frequency of RET mutations in long- and short-segment Hirschsprung disease. 9090527

1997

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. 9230192

1997

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.700 CausalMutation CLINVAR Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC. 9223675

1997