Condition: Hirschsprung Disease


rs2304678 in ABHD1;PREB gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs2505506 in CSGALNACT2 gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs11197571 in GFRA1 gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs671600 in KIR2DS4;KIR2DS1;KIR2DL1;KIR3DL1 gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs3764070 in LINC00327 gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs62472985 in LOC101927378 gene and Hirschsprung Disease PMID 29379196 2018 Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.

rs16879552 in NRG1 gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

PMID 25310821 2014 A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.

PMID 27702942 2016 Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

rs12220534 in RASGEF1A gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs1864400 in RET gene and Hirschsprung Disease PMID 25310821 2014 A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.

PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

PMID 30031151 2019 Excluding the rare variant carriers from the genome-wide association analysis did not appreciably change the association of rs2435357 with Hirschsprung disease.

PMID 27702942 2016 Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

PMID 19336503 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

PMID 14718397 2004 Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2.

PMID 19853744 2009 Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease.

PMID 27847096 2016 A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation.

PMID 27207748 2016 Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.

PMID 9223675 1997 Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.

PMID 24972642 2014 The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.

PMID 9230192 1997 Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.

PMID 25694125 2015 Skewed mutational spectrum of RET proto-oncogene Exon10 in Iranian patients with medullary thyroid carcinoma.

PMID 21765987 2011 Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.

PMID 7633441 1995 Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

PMID 9879991 1998 Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.

PMID 20979234 2011 Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.

PMID 21986619 2012 Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.

PMID 8918855 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.

PMID 9090527 1997 Frequency of RET mutations in long- and short-segment Hirschsprung disease.

PMID 23744765 2013 Thyroid cancer and co-occurring RET mutations in Hirschsprung disease.

PMID 9681852 1998 Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

PMID 7881414 1994 Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

PMID 29020875 2017 Founder Effect of the RETC611Y Mutation in Multiple Endocrine Neoplasia 2A in Denmark: A Nationwide Study.

PMID 14715928 2004 Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease.

PMID 17372903 2007 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.

PMID 7874109 1994 RET proto-oncogene mutations in French MEN 2A and FMTC families.

PMID 18206480 2008 RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.

PMID 11502806 2001 Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients.

PMID 10790203 2000 RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

PMID 19469690 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association.

PMID 11073534 2000 Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis.

PMID 16565500 2006 The Ret(C620R) mutation affects renal and enteric development in a mouse model of Hirschsprung's disease.

rs4759753 in RIMBP2 gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs4672229 in VRK2;LOC107984043 gene and Hirschsprung Disease PMID 27702942 2016 Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.