Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. | 23225041 | 2012 |
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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C | 0.700 | GeneticVariation | CLINVAR | Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. | 22554029 | 2012 |
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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G | 0.700 | GeneticVariation | CLINVAR | Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. | 24016420 | 2013 |
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G | 0.700 | GeneticVariation | CLINVAR | Gene symbol: FAH. Disease: tyrosinaemia 1. | 16521249 | 2005 |
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G | 0.700 | GeneticVariation | CLINVAR | Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1. | 22802474 | 2010 |
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0.800 | GeneticVariation | UNIPROT | Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. | 8318997 | 1993 |
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0.800 | GeneticVariation | UNIPROT | Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. | 11196105 | 2000 |
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0.800 | GeneticVariation | UNIPROT | Two novel mutations involved in hereditary tyrosinemia type I. | 7757089 | 1995 |
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0.800 | GeneticVariation | UNIPROT | Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. | 7550234 | 1995 |
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0.800 | GeneticVariation | UNIPROT | Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. | 8005583 | 1994 |
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0.800 | GeneticVariation | UNIPROT | Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. | 9633815 | 1998 |
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0.800 | GeneticVariation | UNIPROT | A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. | 20003495 | 2009 |
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0.800 | GeneticVariation | UNIPROT | A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. | 11476670 | 2001 |
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T | 0.800 | CausalMutation | CLINVAR | ||||||||||
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0.800 | GeneticVariation | UNIPROT | Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. | 1401056 | 1992 |