Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. 22174939

2011
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. 10618407

2000
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. 10090908

1999
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site. 10484767

1999
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. 9384613

1998
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease. 9094028

1997
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting. 9259198

1997
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Frequency of RET mutations in long- and short-segment Hirschsprung disease. 9090527

1997
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease. 9043870

1996
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. 7581377

1995
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. 7633441

1995
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. 8114938

1994
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. 7704557

1994
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 7881414

1994
dbSNP: rs77724903
rs77724903
RET
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.700 GeneticVariation UNIPROT Mutations of the RET proto-oncogene in Hirschsprung's disease. 8114939

1994