Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency
0.550 Biomarker disease CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675 2015
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency
0.550 GeneticVariation disease BEFREE Inactivating mutations in HSD11B1 cause true cortisone reductase deficiency (CRD). 23132696 2013
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency
0.550 Biomarker disease BEFREE Variation in 11-beta hydroxysteroid dehydrogenase (HSD11B1) is associated with cortisone reductase deficiency, a condition with a phenotype similar to PCOS. 22238371 2012
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency
0.550 GermlineCausalMutation disease ORPHANET Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. 21325058 2011
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency
0.550 GeneticVariation disease BEFREE Recently, it was proposed that a combination of the 83,557insA polymorphism in the 11beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene and the R453Q polymorphism in the hexose-6-phosphate dehydrogenase (H6PD) gene interacts to cause cortisone reductase deficiency (CRD) when at least three alleles are affected. 17062770 2007
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency
0.550 GeneticVariation disease BEFREE Common polymorphisms in both HSD11B1 and the hexose-6-phosphate dehydrogenase (H6PD) gene encoding hexose-6-phosphate dehydrogenase have been found together in ACRD patients, who carry three of a possible four minor alleles at the two loci. 16091483 2005
CUI: C1291245
Disease: Cortisone reductase deficiency
Cortisone reductase deficiency
0.550 GeneticVariation disease BEFREE The R453Q variant in the hexose-6-phosphate dehydrogenase gene (H6PD) and 83557insA mutations in 11beta-hydroxysteroid dehydrogenase (11betaHSD) type 1 gene (HSD11B1) interact, resulting in cortisone reductase deficiency (CRD), a rare disorder characterized by a polycystic ovary syndrome (PCOS)-like phenotype. 15827106 2005