Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 GeneticVariation disease BEFREE A newly-identified major histocompatibility Class I-like gene, HFE (originally HLA-H) located approximately 3.5 Mb telomeric to the Class I cluster on chromosome 6p 21.3 harbours mutations in haemochromatosis. 9691000 1998
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 GeneticVariation disease BEFREE A major histocompatibility complex class I-like gene, HLA-H, has been proposed to be responsible for genetic haemochromatosis. 9382962 1997
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 GeneticVariation disease BEFREE The HLA-H gene has been found to have two mutations that apparently cause hemochromatosis. 9215754 1997
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 Biomarker disease BEFREE Caucasian-type hemochromatosis (prevalence of 0.005) is associated with genetic abnormalities in HLA-H but also occurs in other ethnic groups. 9265905 1997
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 Biomarker disease BEFREE These findings confirm the direct implication of HLA-H in hemochromatosis. 9341868 1997
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 Biomarker disease BEFREE HLA-H and associated proteins in patients with hemochromatosis. 9234244 1997
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 GeneticVariation disease BEFREE Here, we report the successful application of the TDI assay to detect mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the human leukocyte antigen H (HLA-H) gene, and the receptor tyrosin kinase (RET) protooncogene that are associated with cystic fibrosis, hemochromatosis, and multiple endocrine neoplasia, type 2, respectively. 9380706 1997
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 GeneticVariation disease BEFREE We have examined normal individuals and all the patients currently being treated for hemochromatosis at the Norfolk and Norwich hospital for mutations in the HLA-H gene. 9410472 1997
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 GeneticVariation disease BEFREE The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 9162021 1997
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 Biomarker disease BEFREE Hemochromatosis and "HLA-H": definite! 9021970 1997
Entrez Id: 3136
Gene Symbol: HLA-H
HLA-H
0.100 GeneticVariation disease BEFREE The three polymorphic sites in HLA-H together with the two hemochromatosis mutations in this gene give rise to 8 different haplotypes. 9268673 1997