Disease ID | Disease name | Source of annotation with SPTLC2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS162400 | HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 14 | DST, WNK1, NTRK1, PRDM12, DNMT1, IKBKAP, FAM134B, NGF, ATL1, KIF1A, SCN11A, ATL3, SPTLC2, SPTLC1 |
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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 |
---|---|---|
anion binding | GO:0043168 | 4.17 |
serine C-palmitoyltransferase activity | GO:0004758 | 8.13 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
cofactor binding | GO:0048037 | 4.16 |
binding | GO:0005488 | 0.18 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
palmitoyltransferase activity | GO:0016409 | 6.15 |
C-acyltransferase activity | GO:0016408 | 7.1 |
C-palmitoyltransferase activity | GO:0016454 | 8.13 |
pyridoxal phosphate binding | GO:0030170 | 5.83 |