Disease ID | Disease name | Source of annotation with NSDHL | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
308050 | CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS | OMIM, HUMSAVAR | link to OMIM | 1 | NSDHL |
300831 | CK SYNDROME | ClinVar, OMIM | link to OMIM | 1 | NSDHL |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Steroid biosynthesis | hsa00100 | 8.45 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Cholesterol biosynthesis | R-HSA-191273 | 8.46 |
Metabolism | R-HSA-1430728 | 2.34 |
GO term | GO ID | GO IC |
---|---|---|
steroid dehydrogenase activity | GO:0016229 | 6.34 |
oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity | GO:0000252 | 9.74 |
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0016616 | 5.0 |
sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity | GO:0047012 | 9.74 |
steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0033764 | 6.48 |
catalytic activity | GO:0003824 | 1.05 |
3-beta-hydroxy-delta5-steroid dehydrogenase activity | GO:0003854 | 7.95 |
oxidoreductase activity | GO:0016491 | 3.12 |