| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. | 12189494 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? | 11303518 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). | 8630503 | 1996 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. | 27018795 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Review and update of mutations causing Waardenburg syndrome. | 20127975 | 2010 |
|||
|
0.700 | GeneticVariation | UNIPROT | SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. | 12189494 | 2002 |
||||
|
0.700 | GeneticVariation | UNIPROT | A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? | 11303518 | 2001 |
||||
|
0.700 | GeneticVariation | UNIPROT | A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). | 8630503 | 1996 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |