Disease ID | Disease name | Source of annotation with AMPD3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
612874 | ERYTHROCYTE AMP DEAMINASE DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | AMPD3 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Purine metabolism | hsa00230 | 5.28 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Purine salvage | R-HSA-74217 | 9.28 |
Metabolism of nucleotides | R-HSA-15869 | 6.7 |
Metabolism | R-HSA-1430728 | 2.34 |
Purine metabolism | R-HSA-73847 | 7.94 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
cation binding | GO:0043169 | 1.4 |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | GO:0016810 | 4.76 |
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines | GO:0016814 | 6.21 |
ion binding | GO:0043167 | 1.36 |
GO:0047623 | 8.64 | |
catalytic activity | GO:0003824 | 1.05 |
deaminase activity | GO:0019239 | 6.24 |
binding | GO:0005488 | 0.18 |
metal ion binding | GO:0046872 | 1.41 |
GO:0003876 | 8.64 |