Disease ID | Disease name | Source of annotation with ADSL | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
103050 | ADENYLOSUCCINASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ADSL |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Alanine, aspartate and glutamate metabolism | hsa00250 | 7.64 |
Metabolic pathways | hsa01100 | 2.49 |
Purine metabolism | hsa00230 | 5.28 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of nucleotides | R-HSA-15869 | 6.7 |
Purine ribonucleoside monophosphate biosynthesis | R-HSA-73817 | 9.52 |
Metabolism | R-HSA-1430728 | 2.34 |
Purine metabolism | R-HSA-73847 | 7.94 |
GO term | GO ID | GO IC |
---|---|---|
GO:0004018 | 9.74 | |
carbon-nitrogen lyase activity | GO:0016840 | 7.44 |
GO:0016842 | 8.35 | |
lyase activity | GO:0016829 | 4.53 |
GO:0070626 | 9.74 | |
catalytic activity | GO:0003824 | 1.05 |