Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | BEFREE | Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. | 29319599 | 2018 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | UNIPROT | Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis. | 23374346 | 2013 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | UNIPROT | The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes. | 23169578 | 2013 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | UNIPROT | Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. | 20489584 | 2010 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | UNIPROT | UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. | 20505825 | 2010 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | UNIPROT | Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. | 19429578 | 2009 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | UNIPROT | A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. | 19649163 | 2009 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | UNIPROT | Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. | 18176953 | 2008 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | UNIPROT | Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. | 17668063 | 2007 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | GeneticVariation | UNIPROT | Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. | 17962451 | 2007 | |||||
Schnyder crystalline corneal dystrophy
|
0.810 | CausalMutation | CLINVAR | ||||||||
Anemia, Sickle Cell
|
0.010 | GeneticVariation | BEFREE | We report a novel c.864G>A UBIAD1 mutation altering glycine 177 to glutamic acid (p.G177E) in six SCD families, including four families from Finland who share a likely founder mutation. | 23169578 | 2013 | |||||
Renal carnitine transport defect
|
0.010 | GeneticVariation | BEFREE | We report a novel c.864G>A UBIAD1 mutation altering glycine 177 to glutamic acid (p.G177E) in six SCD families, including four families from Finland who share a likely founder mutation. | 23169578 | 2013 |