| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.820 | GeneticVariation | BEFREE | This study analyzed routine clinical practice and outcomes of children with Byler disease (defined by homozygous c.923G>T mutation in ATP8b1), who initially presented to Children's Hospital of Pittsburgh of UPMC between January 2007 and October 2014. | 25825852 | 2015 |
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|
0.820 | GeneticVariation | UNIPROT | Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. | 23197899 | 2012 |
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|
0.820 | 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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|
0.820 | 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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|
0.820 | GeneticVariation | BEFREE | In this study we analyzed a panel of missense mutations causing PFIC1 (G308V, D554N, G1040R) or BRIC1 (D70N, I661T). | 19731236 | 2009 |
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|
0.820 | GeneticVariation | UNIPROT | Characterization of mutations in ATP8B1 associated with hereditary cholestasis. | 15239083 | 2004 |
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|
0.820 | GeneticVariation | UNIPROT | A missense mutation in FIC1 is associated with greenland familial cholestasis. | 11093741 | 2000 |
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|
0.820 | GeneticVariation | UNIPROT | A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. | 9500542 | 1998 |
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|
A | 0.820 | CausalMutation | CLINVAR | ||||||
|
A | 0.820 | GeneticVariation | CLINVAR |