Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 GeneticVariation disease BEFREE The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies. 26464103 2015
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 GermlineCausalMutation disease ORPHANET The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies. 26464103 2015
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 GeneticVariation disease BEFREE Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy. 19433713 2009
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 Biomarker disease GENOMICS_ENGLAND Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. 17668063 2007
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 GeneticVariation disease BEFREE Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal dystrophy (Arg555Gln [R555Q] heterozygous missense mutation of human transforming growth factor beta-induced [TGFBI] gene) and 3 patients from one pedigree (a 70-year-old woman, 58-year-old man, and 14-year old man) with Reis-Bücklers corneal dystrophy (Arg124Leu [R124L] heterozygous missense mutation of the TGFBI gene) were examined. 17198850 2007
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 GeneticVariation disease BEFREE Clinical diagnoses of CDB1 (RBCD) and CDB2 (TBCD) were made for probands A and B, respectively. 17980739 2007
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 GeneticVariation disease BEFREE For example, lattice dystrophy types I and IIIA, granular corneal dystrophy types I, II (Avellino dystrophy), and III (Reis-Bucklers dystrophy), and Thiel-Behnke corneal dystrophy are the result of mutations in BIGH3. 10612512 1999
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 Biomarker disease GENOMICS_ENGLAND Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. 9727509 1998
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 CausalMutation disease CLINVAR
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 Biomarker disease CTD_human
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.750 GeneticVariation disease UNIPROT
Entrez Id: 982
Gene Symbol: CDB2
CDB2
0.020 Biomarker disease BEFREE Clinical diagnoses of CDB1 (RBCD) and CDB2 (TBCD) were made for probands A and B, respectively. 17980739 2007
Entrez Id: 982
Gene Symbol: CDB2
CDB2
0.020 Biomarker disease BEFREE Clinically our patients showed three distinct phenotypes of CD: 16 with Thiel-Behnke corneal dystrophy or corneal dystrophy of Bowman layer type 2 (CDB2), 8 with granular CD (GCD), and 5 with lattice CD type I (LCDI). 16118514 2005
Entrez Id: 9476
Gene Symbol: NAPSA
NAPSA
0.010 Biomarker disease BEFREE We demonstrate, using the Syrian golden hamster model of CDI, that the inclusion of binary toxin components CDTa and CDTb significantly improves the efficacy of the vaccine against challenge with NAP1 strains in comparison to vaccines containing only TcdA and TcdB antigens, while providing comparable efficacy against challenge with the prototypic, non-epidemic strain VPI10463. 28125650 2017
Entrez Id: 10787
Gene Symbol: NCKAP1
NCKAP1
0.010 Biomarker disease BEFREE We demonstrate, using the Syrian golden hamster model of CDI, that the inclusion of binary toxin components CDTa and CDTb significantly improves the efficacy of the vaccine against challenge with NAP1 strains in comparison to vaccines containing only TcdA and TcdB antigens, while providing comparable efficacy against challenge with the prototypic, non-epidemic strain VPI10463. 28125650 2017
Entrez Id: 51531
Gene Symbol: TRMO
TRMO
0.010 Biomarker disease BEFREE We demonstrate, using the Syrian golden hamster model of CDI, that the inclusion of binary toxin components CDTa and CDTb significantly improves the efficacy of the vaccine against challenge with NAP1 strains in comparison to vaccines containing only TcdA and TcdB antigens, while providing comparable efficacy against challenge with the prototypic, non-epidemic strain VPI10463. 28125650 2017
Entrez Id: 4673
Gene Symbol: NAP1L1
NAP1L1
0.010 Biomarker disease BEFREE We demonstrate, using the Syrian golden hamster model of CDI, that the inclusion of binary toxin components CDTa and CDTb significantly improves the efficacy of the vaccine against challenge with NAP1 strains in comparison to vaccines containing only TcdA and TcdB antigens, while providing comparable efficacy against challenge with the prototypic, non-epidemic strain VPI10463. 28125650 2017
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.010 Biomarker disease BEFREE We demonstrate, using the Syrian golden hamster model of CDI, that the inclusion of binary toxin components CDTa and CDTb significantly improves the efficacy of the vaccine against challenge with NAP1 strains in comparison to vaccines containing only TcdA and TcdB antigens, while providing comparable efficacy against challenge with the prototypic, non-epidemic strain VPI10463. 28125650 2017
Entrez Id: 257397
Gene Symbol: TAB3
TAB3
0.010 Biomarker disease BEFREE We demonstrate, using the Syrian golden hamster model of CDI, that the inclusion of binary toxin components CDTa and CDTb significantly improves the efficacy of the vaccine against challenge with NAP1 strains in comparison to vaccines containing only TcdA and TcdB antigens, while providing comparable efficacy against challenge with the prototypic, non-epidemic strain VPI10463. 28125650 2017
Entrez Id: 80018
Gene Symbol: NAA25
NAA25
0.010 Biomarker disease BEFREE We demonstrate, using the Syrian golden hamster model of CDI, that the inclusion of binary toxin components CDTa and CDTb significantly improves the efficacy of the vaccine against challenge with NAP1 strains in comparison to vaccines containing only TcdA and TcdB antigens, while providing comparable efficacy against challenge with the prototypic, non-epidemic strain VPI10463. 28125650 2017
Entrez Id: 64343
Gene Symbol: AZI2
AZI2
0.010 Biomarker disease BEFREE We demonstrate, using the Syrian golden hamster model of CDI, that the inclusion of binary toxin components CDTa and CDTb significantly improves the efficacy of the vaccine against challenge with NAP1 strains in comparison to vaccines containing only TcdA and TcdB antigens, while providing comparable efficacy against challenge with the prototypic, non-epidemic strain VPI10463. 28125650 2017
Entrez Id: 10005
Gene Symbol: ACOT8
ACOT8
0.010 Biomarker disease BEFREE We demonstrate, using the Syrian golden hamster model of CDI, that the inclusion of binary toxin components CDTa and CDTb significantly improves the efficacy of the vaccine against challenge with NAP1 strains in comparison to vaccines containing only TcdA and TcdB antigens, while providing comparable efficacy against challenge with the prototypic, non-epidemic strain VPI10463. 28125650 2017
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.010 GeneticVariation disease BEFREE Mutations in the coding sequence of the human collagen XVII (COL17A1) gene are not the cause of CDB2. 14562173 2003