rs397514669, UBIAD1

N. diseases: 3
Disease: Schnyder crystalline corneal dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schnyder crystalline corneal dystrophy
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: 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
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
0.810 CausalMutation CLINVAR