Disease ID | Disease name | Source of annotation with CERS3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS242300 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE | ClinVar, OMIM | link to OMIM | 10 | PNPLA1, ST14, ABCA12, NIPAL4, ALOXE3, LIPN, ALOX12B, CYP4F22, CERS3, TGM1 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Sphingolipid metabolism | hsa00600 | 7.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Sphingolipid metabolism | R-HSA-428157 | 6.79 |
Metabolism | R-HSA-1430728 | 2.34 |
Sphingolipid de novo biosynthesis | R-HSA-1660661 | 7.98 |
GO term | GO ID | GO IC |
---|---|---|
N-acyltransferase activity | GO:0016410 | 5.08 |
organic cyclic compound binding | GO:0097159 | 1.05 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
DNA binding | GO:0003677 | 1.92 |
sphingosine N-acyltransferase activity | GO:0050291 | 7.79 |
heterocyclic compound binding | GO:1901363 | 1.06 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |