Disease table of CORTISONE REDUCTASE DEFICIENCY OMIM ID: PS604931

Gene-disease associations table

GeneAssociated with CORTISONE REDUCTASE DEFICIENCY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
H6PDClinVar, OMIM, HUMSAVARHGNC link1p36.221PS604931
HSD11B1ClinVar, OMIMHGNC link1q32.21PS604931

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
12H6PD, HSD11B1
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.492HSD11B1, H6PD
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.052HSD11B1, H6PD
oxidoreductase activity, acting on CH-OH group of donors (GO:0016614) 4.832HSD11B1, H6PD
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616) 5.02HSD11B1, H6PD
oxidoreductase activity (GO:0016491) 3.122HSD11B1, H6PD

NET-GE enrichment

Term New enriched termICP valueGenes
oxidoreductase activity, acting on CH-OH group of donors (GO:0016614) -4.830.002HSD11B1, H6PD
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616) -5.00.003HSD11B1, H6PD
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.692HSD11B1, H6PD
single-organism metabolic process (GO:0044710) 1.632HSD11B1, H6PD
single-organism process (GO:0044699) 0.482HSD11B1, H6PD
organic substance metabolic process (GO:0071704) 0.632HSD11B1, H6PD
organic cyclic compound metabolic process (GO:1901360) 1.262HSD11B1, H6PD
metabolic process (GO:0008152) 0.582HSD11B1, H6PD
oxidation-reduction process (GO:0055114) 2.912HSD11B1, H6PD
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62HSD11B1, H6PD
cell part (GO:0044464) 0.112HSD11B1, H6PD
cytoplasmic part (GO:0044444) 0.822HSD11B1, H6PD
intracellular organelle part (GO:0044446) 0.812HSD11B1, H6PD
endoplasmic reticulum part (GO:0044432) 2.732HSD11B1, H6PD
intracellular organelle (GO:0043229) 0.512HSD11B1, H6PD
intracellular part (GO:0044424) 0.282HSD11B1, H6PD
membrane-bounded organelle (GO:0043227) 0.472HSD11B1, H6PD
organelle (GO:0043226) 0.42HSD11B1, H6PD
organelle part (GO:0044422) 0.792HSD11B1, H6PD
endoplasmic reticulum (GO:0005783) 2.562HSD11B1, H6PD