Cortisone reductase deficiency

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CORTISONE REDUCTASE DEFICIENCY
C1291245MESH:C536447MONDO:0000193
H6PD Unknown
18628520
CTD, Disgenet, Orphanet
HSD11B1 Unknown
21325058 25526675
CTD, Disgenet, GWAS catalog
CORTISONE REDUCTASE DEFICIENCY 1
604931C3551716MONDO:0011503
H6PD Causal
16356929 18222920 18628520 23132696 242284 251462 282726
ClinVar, Disgenet, GWAS catalog, HPO
CORTISONE REDUCTASE DEFICIENCY 2
614662C3553382MONDO:0013842
HSD11B1 Causal
21325058 9405715
ClinVar, Disgenet, GWAS catalog, HPO
All2 Causal2 Unknown2
Related Diseases Diseases that share the most curated genes with Cortisone reductase deficiency.
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Hyperandrogenism 2 shared genesHSD11B1, H6PD Related via 2 shared genes including HSD11B1, H6PD. Omphalocele exstrophy imperforate anus 1 shared geneHSD11B1 Related via 1 shared gene including HSD11B1. Hyperglycemia 1 shared geneHSD11B1 Related via 1 shared gene including HSD11B1. Allergic contact dermatitis 1 shared geneHSD11B1 Related via 1 shared gene including HSD11B1. Venous thromboembolism 1 shared geneH6PD Related via 1 shared gene including H6PD.