Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 265
Gene Symbol: AMELX
AMELX
0.320 GeneticVariation disease BEFREE Mutations in the amelogenin gene, AMGX, are known to cause X-linked amelogenesis imperfecta (AIH1). 9083938 1997
Entrez Id: 265
Gene Symbol: AMELX
AMELX
0.320 GeneticVariation disease BEFREE We have identified three families exhibiting AIH1 and screened the AMGX gene for mutations using single-strand conformational polymorphism analysis and DNA sequencing. 7599636 1995
Entrez Id: 265
Gene Symbol: AMELX
AMELX
0.320 Biomarker disease CTD_human
Entrez Id: 266
Gene Symbol: AMELY
AMELY
0.200 Biomarker disease MGD A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. 20067920 2010
Entrez Id: 266
Gene Symbol: AMELY
AMELY
0.200 Biomarker disease MGD Amelogenin-deficient mice display an amelogenesis imperfecta phenotype. 11406633 2001
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
0.010 AlteredExpression disease BEFREE In addition, higher serum ALT, AST levels and more common cirrhosis were observed in AIH-1 patients with T allele (CT/TT) than those with CC genotype. 28448618 2017
Entrez Id: 7528
Gene Symbol: YY1
YY1
0.010 GeneticVariation disease BEFREE The repression of TBX21 expression by high-affinity binding of YY1 to the -1993C allele may contribute to a decreased development of AIH-1 <i>via</i> suppression of type 1 immunity. 29358858 2017
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.010 AlteredExpression disease BEFREE Knockdown of YY1 with siRNA caused increased expression of T-bet and IFN-γ in peripheral blood mononuclear cells in AIH-1 patients. 29358858 2017
Entrez Id: 6862
Gene Symbol: TBXT
TBXT
0.010 Biomarker disease BEFREE Flow cytometry and quantitative real-time PCR were used to analyze T-box transcription factor (T-bet) and interferon-γ (IFN-γ) expressions in CD4<sup>+</sup> T cells, B cells and monocytes from the peripheral blood of AIH-1 patients including 5-1993TC and 15-1993TT genotype carriers, and healthy controls including 10-1993TC and 25-1993TT genotype carriers. 29358858 2017
Entrez Id: 30009
Gene Symbol: TBX21
TBX21
0.010 AlteredExpression disease BEFREE The repression of TBX21 expression by high-affinity binding of YY1 to the -1993C allele may contribute to a decreased development of AIH-1 <i>via</i> suppression of type 1 immunity. 29358858 2017
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
0.010 GeneticVariation disease BEFREE However, the CTLA-4 alleles as well as genotypes in dominant and recessive models were not associated with a risk for AIH-1 in both Caucasians and Asians. 25942345 2015
Entrez Id: 3502
Gene Symbol: IGHG3
IGHG3
0.010 Biomarker disease BEFREE Quantitation of AAA IgG subclasses revealed that IgG1 and IgG3 were specifically increased in D-AAA from AIH-1 and PBC, respectively, as compared to N-AAA. 12791319 2003
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 GeneticVariation disease BEFREE IgG AAA from sera of healthy donors, patients with autoimmune hepatitis type 1 (AIH-1) and patients with primary biliary cirrhosis (PBC) were affinity-purified on actin immunoadsorbent and tested initially for polyspecificity against various cytoskeleton proteins by enzyme-linked immunosorbent assay (ELISA). 12791319 2003