Disease ID | Disease name | Source of annotation with PYCR2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS312080 | LEUKODYSTROPHY, HYPOMYELINATING | ClinVar, OMIM, HUMSAVAR | link to OMIM | 13 | PYCR2, POLR3A, HIKESHI, AIMP1, RARS, POLR3B, VPS11, PLP1, HSPD1, POLR1C, FAM126A, GJC2, TUBB4A |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Biosynthesis of amino acids | hsa01230 | 6.58 |
Metabolic pathways | hsa01100 | 2.49 |
Arginine and proline metabolism | hsa00330 | 6.84 |
GO term | GO ID | GO IC |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
oxidoreductase activity | GO:0016491 | 3.12 |
oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor | GO:0016646 | 6.79 |
oxidoreductase activity, acting on the CH-NH group of donors | GO:0016645 | 6.41 |
pyrroline-5-carboxylate reductase activity | GO:0004735 | 8.13 |