Disease: Corneal dystrophy, epithelial basement membrane ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		0.710 GeneticVariation disease BEFREE We evaluated the spectrum of TGFBI mutations and associated phenotypes in a United Kingdom cohort with typical epithelial-stromal TGFBI dystrophies and an EBMD cohort. 27737463 2016
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. 17668063 2007
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		0.710 GermlineCausalMutation disease ORPHANET A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. 16652336 2006
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		0.710 GeneticVariation disease UNIPROT A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. 16652336 2006
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		0.710 Biomarker disease GENOMICS_ENGLAND Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. 9727509 1998
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		0.710 CausalMutation disease CLINVAR
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial basement membrane 		0.710 Biomarker disease CTD_human