rs142569954, EDNRB

N. diseases: 3
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 These included one previously described polymorphism in exon 4 (831G/A) seen in association with Hirschsprung disease and 6 novel polymorphisms identified in exons 1 (178G/A), 2 (552C/T and 561C/T), and 3 (702C/T). 17618893 2007
Hirschsprung Disease
CUI: C0019569
Disease: Hirschsprung Disease
0.020 GeneticVariation BEFREE Detection of the 178G/A polymorphism in only non-syndromic HSCR patients, provide further support for an important role of specific sequence variants in the EDNRB gene in the HSCR/Down's syndrome phenotype. 12628594 2003
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
0.010 GeneticVariation BEFREE Detection of the 178G/A polymorphism in only non-syndromic HSCR patients, provide further support for an important role of specific sequence variants in the EDNRB gene in the HSCR/Down's syndrome phenotype. 12628594 2003
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE Detection of the 178G/A polymorphism in only non-syndromic HSCR patients, provide further support for an important role of specific sequence variants in the EDNRB gene in the HSCR/Down's syndrome phenotype. 12628594 2003