Disease ID | Disease name | Source of annotation with AMPD2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS607596 | PONTOCEREBELLAR HYPOPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 13 | AMPD2, EXOSC3, CLP1, SEPSECS, TSEN34, TSEN2, PCLO, VPS53, TSEN54, KCNT1, RARS2, VRK1, CHMP1A |
PS303350 | SPASTIC PARAPLEGIA | OMIM | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ARL6IP1, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, VPS37A, L1CAM, TFG, RTN2, CYP7B1, ERLIN2, KIF1A, AP4M1, AMPD2, SPAST, SPG20, AP4S1, HSPD1, SPG21, PLP1, REEP1, ALDH18A1, TECPR2, BSCL2, PNPLA6, SPG7, CYP2U1, NT5C2, NIPA1, DDHD1, CPT1C, ZFYVE27, AP4B1, FA2H |
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 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
GO:0003876 | 8.64 |