| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
GAAGGCTC | 0.700 | GeneticVariation | CLINVAR | JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. | 26076142 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. | 15712272 | 2005 |
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C | 0.700 | CausalMutation | CLINVAR | DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. | 12442286 | 2002 |
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|
C | 0.700 | CausalMutation | CLINVAR | Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. | 10220506 | 1999 |
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|
C | 0.700 | CausalMutation | CLINVAR | Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. | 9207788 | 1997 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | Our data suggest that gene variations of c.2612C>G, c.2957T>A, and c.3417T>C, especially c.2957T>A, might have contributed to the pathogenesis of Alagille syndrome in these Chinese twin sisters and provided new gene evidences for Alagille syndrome. | 26339425 | 2015 |
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|
0.010 | GeneticVariation | BEFREE | We report on a patient with tetralogy of Fallot (TOF) and clinical features of DG/VCFS, hemizygous for del22q11.2 and heterozygous for the 2810G > A (p.Arg937Gln) mutation in the JAG1 gene associated with Alagille syndrome. | 23956173 | 2013 |
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0.010 | GeneticVariation | BEFREE | A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes. | 19780835 | 2009 |