| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis. | 26879107 | 2016 |
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|
0.800 | GeneticVariation | UNIPROT | Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. | 23197899 | 2012 |
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|
G | 0.800 | CausalMutation | CLINVAR | Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate. | 19918981 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. | 20038848 | 2010 |
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|
G | 0.800 | CausalMutation | CLINVAR | Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. | 19731236 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. | 19731236 | 2009 |
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|
G | 0.800 | CausalMutation | CLINVAR | Characterization of mutations in ATP8B1 associated with hereditary cholestasis. | 15239083 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Characterization of mutations in ATP8B1 associated with hereditary cholestasis. | 15239083 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | A missense mutation in FIC1 is associated with greenland familial cholestasis. | 11093741 | 2000 |
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|
G | 0.800 | CausalMutation | CLINVAR | Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. | 9918928 | 1999 |
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|
G | 0.800 | CausalMutation | CLINVAR | A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. | 9500542 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. | 9500542 | 1998 |