Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Corticosteroid-Binding Globulin Deficiency
0.950 AlteredExpression disease BEFREE Our aim was to ascertain whether CBG deficiency could affect the endocrine synthetic activity of adrenal gland and if the adrenal gland produces CBG. 31570737 2019
Corticosteroid-Binding Globulin Deficiency
0.950 Biomarker disease BEFREE Then the dissection of some CBG physiological roles in an animal model of genetic CBG deficiency is reported. 19643164 2010
Corticosteroid-Binding Globulin Deficiency
0.950 Biomarker disease MGD We have investigated the effect of partial or total transcortin deficiency using transcortin knockout mice on hypothalamus-pituitary-adrenal axis functioning and regulation as well as on behaviors linked to anxiety and depression traits in animals. 20022933 2010
Corticosteroid-Binding Globulin Deficiency
0.950 GeneticVariation disease BEFREE To the best of our knowledge, this case represents the first de novo mutation reported for corticosteroid-binding globulin deficiency, implicating a pathogenic role of variants of SERPINA6 in some cases of muscle fatigue. 17245537 2007
Corticosteroid-Binding Globulin Deficiency
0.950 GeneticVariation disease UNIPROT To the best of our knowledge, this case represents the first de novo mutation reported for corticosteroid-binding globulin deficiency, implicating a pathogenic role of variants of SERPINA6 in some cases of muscle fatigue. 17245537 2007
Corticosteroid-Binding Globulin Deficiency
0.950 Biomarker disease MGD Hyporesponsiveness to glucocorticoids in mice genetically deficient for the corticosteroid binding globulin. 16980625 2006
Corticosteroid-Binding Globulin Deficiency
0.950 GermlineCausalMutation disease ORPHANET Although relative hypotension and fatigue have recently been associated with CBG deficiency in a family with two CBG mutations (null and Lyon), the two homozygous subjects in this kindred were both normotensive and only the proband presented with fatigue. 12780753 2003
Corticosteroid-Binding Globulin Deficiency
0.950 Biomarker disease BEFREE We propose that the increased proliferation and enhanced differentiation of CBG-negative preadipocytes may promote adipose tissue deposition and explain the obesity seen in individuals with genetic CBG deficiency. 12554596 2003
Corticosteroid-Binding Globulin Deficiency
0.950 GeneticVariation disease BEFREE Although relative hypotension and fatigue have recently been associated with CBG deficiency in a family with two CBG mutations (null and Lyon), the two homozygous subjects in this kindred were both normotensive and only the proband presented with fatigue. 12780753 2003
Corticosteroid-Binding Globulin Deficiency
0.950 GeneticVariation disease UNIPROT Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. 10634411 2000
Corticosteroid-Binding Globulin Deficiency
0.950 GeneticVariation disease UNIPROT Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. 8212073 1993
Corticosteroid-Binding Globulin Deficiency
0.950 GeneticVariation disease UNIPROT A Leu----His substitution at residue 93 in human corticosteroid binding globulin results in reduced affinity for cortisol. 1504007 1992
Corticosteroid-Binding Globulin Deficiency
0.950 Biomarker disease CTD_human
Corticosteroid-Binding Globulin Deficiency
0.950 GeneticVariation disease CLINVAR
Corticosteroid-Binding Globulin Deficiency
0.950 CausalMutation disease CLINVAR