rs1800863, RET

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.020 GeneticVariation BEFREE Our results indicated that rs1800858, rs1800860, rs1800863, and rs2075912, located in exons 2, 7, 15, and intron 19 of RET, are strongly associated with the disease (P < 0.01), with rs1800860 and rs1800863 playing a protective role in the pathogenesis of HSCR in the Chinese population. 20454948 2010
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.020 GeneticVariation BEFREE In contrast, two other polymorphisms, G691S (c 2071C-->A) (exon 11) and S904S (c 2712C-->G) (exon 15), were under-represented in the HSCR patients compared to controls (p=0.02). 10528857 1999
Medullary carcinoma of thyroid
CUI: C0238462
Disease: Medullary carcinoma of thyroid
0.010 GeneticVariation BEFREE (3) The single-nucleotide polymorphisms (SNP) G691S in exon 11 (rs1799939), S904S in exon 15 (rs1800863), and rs2075912 and rs2565200 in the 3'-untranslated region of the RET proto-oncogene are in complete linkage disequilibrium (D' = 1, r2 = 1); no correlation of these SNP and MTC was observed in this pedigree. 27798940 2017
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE We evaluated RET G691S (rs1799939), L769L (rs1800861), and S904S (rs1800863) polymorphisms to elucidate their possible role as risk factors in papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC). 25736215 2015
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
0.010 GeneticVariation BEFREE We evaluated RET G691S (rs1799939), L769L (rs1800861), and S904S (rs1800863) polymorphisms to elucidate their possible role as risk factors in papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC). 25736215 2015