Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 GeneticVariation UNIPROT Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis. 23374346

2013
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 GeneticVariation UNIPROT Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity. 23169578

2013
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 GeneticVariation UNIPROT UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. 20505825

2010
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 GeneticVariation UNIPROT Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. 20489584

2010
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 GeneticVariation UNIPROT We report on a novel heterozygous mutation of UBIAD1, G98S, in two patients with SCCD. 19649163

2009
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 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
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 GeneticVariation UNIPROT The purpose of this article is to further characterize the mutation spectrum of SCCD and identify structural and functional consequences for UBIAD1 protein activity. 18176953

2008
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 GeneticVariation UNIPROT Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. 17668063

2007
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		1.000 GeneticVariation UNIPROT Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. 17962451

2007