Gene: UBIAD1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514669
rs397514669
UBIAD1
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
dbSNP: rs397514669
rs397514669
UBIAD1
0.810 GeneticVariation UNIPROT Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis. 23374346

2013
dbSNP: rs397514669
rs397514669
UBIAD1
0.810 GeneticVariation UNIPROT The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes. 23169578

2013
dbSNP: rs397514669
rs397514669
UBIAD1
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
dbSNP: rs397514669
rs397514669
UBIAD1
0.810 GeneticVariation UNIPROT UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. 20505825

2010
dbSNP: rs118203951
rs118203951
MTOR ; UBIAD1
0.810 GeneticVariation BEFREE 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
dbSNP: rs397514669
rs397514669
UBIAD1
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
dbSNP: rs397514669
rs397514669
UBIAD1
0.810 GeneticVariation UNIPROT A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. 19649163

2009
dbSNP: rs118203946
rs118203946
MTOR ; UBIAD1
0.810 GeneticVariation BEFREE In four families with DNA samples from both affected and unaffected individuals, the D118G, G186R, T175I, and G177R mutations cosegregated with SCCD. 18176953

2008
dbSNP: rs397514669
rs397514669
UBIAD1
0.810 GeneticVariation UNIPROT Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. 18176953

2008
dbSNP: rs397514669
rs397514669
UBIAD1
0.810 GeneticVariation UNIPROT Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. 17668063

2007
dbSNP: rs397514669
rs397514669
UBIAD1
0.810 GeneticVariation UNIPROT Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. 17962451

2007
dbSNP: rs118203946
rs118203946
MTOR ; UBIAD1
C 0.810 CausalMutation CLINVAR

dbSNP: rs118203946
rs118203946
MTOR ; UBIAD1
0.810 GeneticVariation UNIPROT

dbSNP: rs118203951
rs118203951
MTOR ; UBIAD1
0.810 GeneticVariation UNIPROT

dbSNP: rs118203951
rs118203951
MTOR ; UBIAD1
C 0.810 CausalMutation CLINVAR

dbSNP: rs397514669
rs397514669
UBIAD1
A 0.810 CausalMutation CLINVAR

dbSNP: rs118203945
rs118203945
MTOR ; UBIAD1
G 0.800 CausalMutation CLINVAR

dbSNP: rs118203945
rs118203945
MTOR ; UBIAD1
0.800 GeneticVariation UNIPROT

dbSNP: rs118203947
rs118203947
MTOR ; UBIAD1
G 0.800 CausalMutation CLINVAR

dbSNP: rs118203947
rs118203947
MTOR ; UBIAD1
0.800 GeneticVariation UNIPROT

dbSNP: rs118203948
rs118203948
MTOR ; UBIAD1
T 0.800 CausalMutation CLINVAR

dbSNP: rs118203948
rs118203948
MTOR ; UBIAD1
0.800 GeneticVariation UNIPROT

dbSNP: rs118203949
rs118203949
UBIAD1
G 0.800 CausalMutation CLINVAR

dbSNP: rs118203949
rs118203949
UBIAD1
0.800 GeneticVariation UNIPROT