Disease ID | Disease name | Source of annotation with SRD5A3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS212065 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I | ClinVar, OMIM | link to OMIM | 25 | ALG2, ALG1, ALG13, ALG3, CAD, STT3A, SRD5A3, ALG12, ALG8, DPAGT1, DDOST, ALG6, MPI, PMM2, STT3B, DOLK, MPDU1, RFT1, PGM1, ALG9, DPM1, DPM3, ALG11, DPM2, SSR4 |
612713 | KAHRIZI SYNDROME | ClinVar, OMIM | link to OMIM | 1 | SRD5A3 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Steroid hormone biosynthesis | hsa00140 | 6.93 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Post-translational protein modification | R-HSA-597592 | 4.54 |
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | R-HSA-446193 | 6.92 |
Diseases associated with glycosylation precursor biosynthesis | R-HSA-5609975 | 9.08 |
Synthesis of substrates in N-glycan biosythesis | R-HSA-446219 | 7.28 |
Metabolism of proteins | R-HSA-392499 | 3.41 |
Synthesis of Dolichyl-phosphate | R-HSA-446199 | 10.66 |
Asparagine N-linked glycosylation | R-HSA-446203 | 6.1 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of steroid hormones and vitamin D | R-HSA-196071 | 7.89 |
Androgen biosynthesis | R-HSA-193048 | 9.52 |
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Diseases of glycosylation | R-HSA-3781865 | 6.89 |
Disease | R-HSA-1643685 | 3.33 |
Defective SRD5A3 causes SRD5A3-CDG (CDG-1q) and KHRZ | R-HSA-4755579 | 12.98 |
GO term | GO ID | GO IC |
---|---|---|
steroid dehydrogenase activity | GO:0016229 | 6.34 |
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | GO:0016628 | 6.56 |
3-oxo-5-alpha-steroid 4-dehydrogenase activity | GO:0003865 | 8.64 |
oxidoreductase activity, acting on the CH-CH group of donors | GO:0016627 | 5.66 |
steroid dehydrogenase activity, acting on the CH-CH group of donors | GO:0033765 | 8.35 |
catalytic activity | GO:0003824 | 1.05 |
enone reductase activity | GO:0035671 | 8.13 |
cholestenone 5-alpha-reductase activity | GO:0047751 | 8.64 |
oxidoreductase activity | GO:0016491 | 3.12 |