Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GeneticVariation disease BEFREE Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives. 31201376 2020
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GeneticVariation disease BEFREE Transcriptomic analysis of this and previously-reported RNA-seq data from two individuals with PPCD (the first with PPCD3 associated with a ZEB1 truncating mutation (c.1381delinsGACGAT) and the second with genetically unresolved PPCD in which ZEB1 coding region, OVOL2 promoter and GRHL2 promoter, exon 1, and intron 1 mutations were excluded) revealed: OVOL2 expression increased in PPCD1 (259 fold), unchanged in PPCD3 and slightly increased in genetically unresolved PPCD (from 0 TPM to 0.86 TPM, undefined fold change); ZEB1 expression decreased in PPCD1 (-5.9 fold), PPCD3 (-3.95 fold) and genetically unresolved PPCD (-3.96 fold); and GRHL2 expression increased in PPCD1 (333.5 fold), slightly increased (from 0 TPM to 0.67 TPM, undefined fold change) in PPCD3 and increased in genetically unresolved PPCD (1853 fold). 31233731 2019
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GeneticVariation disease BEFREE For data analysis the PPCD patients were divided based on either the molecular genetic cause of their disease as PPCD1 (37 samples), PPCD3 (1 sample) and PPCDx (not linked to a known PPCD loci, 4 samples) or on the presence (17 samples) or absence (25 samples) of secondary glaucoma or on whether they had undergone penetrating keratoplasty (PK, 32 samples) or repeated PK (rePK, 7 samples). 28414732 2017
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 Biomarker disease BEFREE The promoter, 5' UTR, and coding regions of OVOL2 was screened in the PPCD family in which linkage analysis established the PPCD1 locus and in 26 PPCD probands who did not harbor a ZEB1 mutation. 28046031 2017
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GermlineCausalMutation disease ORPHANET Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. 26749309 2016
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GeneticVariation disease BEFREE We have previously described a mouse model of human posterior polymorphous corneal dystrophy (PPCD) and localized the causative mutation to a 6.2 Mbp region of chromosome 2, termed Ppcd1. 27310661 2016
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GeneticVariation disease BEFREE On review of almost all of the published cases, the description appeared most similar to a type of posterior polymorphous corneal dystrophy linked to the same chromosome 20 locus (PPCD1). 25564336 2015
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GeneticVariation disease BEFREE The absence of ZEB1 promoter region mutations in probands without a ZEB1 coding region mutation indicates that other genetic loci, such as the PPCD1 locus, are involved in the pathogenesis of PPCD. 23559851 2013
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 Biomarker disease BEFREE The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene. 20808945 2010
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GeneticVariation disease BEFREE We sought to identify the genetic basis of PPCD linked to chromosome 20 (PPCD1) by screening the 26 positional candidate genes between these markers in a family previously mapped to the PPCD1 region. 19574904 2009
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GeneticVariation disease BEFREE We provide evidence for genetic heterogeneity of chromosome 20-related PPCD and refinement of the original PPCD1 interval. 18253095 2008
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 GeneticVariation disease BEFREE Multiple relatives were affected with PPMD with apparent autosomal dominant inheritance, but surprisingly, the PPMD, congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses. 12654361 2003
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy
0.500 Biomarker disease HPO