Disease ID | Disease name | Source of annotation with GBA2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 47 | KIF5A, ATL1, C12orf65, IBA57, GJC2, GBA2, KIAA0196, ZFYVE26, ENTPD1, AP4E1, B4GALNT1, DDHD2, C19orf12, AP5Z1, SPG11, SLC33A1, MAG, CYP2U1, L1CAM, TFG, ARL6IP1, AP4M1, ERLIN2, KIF1A, AMPD2, SPAST, SPG20, AP4S1, HSPD1, RTN2, PLP1, CYP7B1, REEP1, SPG21, TECPR2, BSCL2, PNPLA6, SPG7, VPS37A, NT5C2, NIPA1, DDHD1, CPT1C, ALDH18A1, ZFYVE27, AP4B1, FA2H |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Other glycan degradation | hsa00511 | 8.45 |
Sphingolipid metabolism | hsa00600 | 7.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Metabolism | R-HSA-1430728 | 2.34 |
Glycosphingolipid metabolism | R-HSA-1660662 | 7.62 |
Sphingolipid metabolism | R-HSA-428157 | 6.79 |
GO term | GO ID | GO IC |
---|---|---|
glucosidase activity | GO:0015926 | 7.1 |
glucosylceramidase activity | GO:0004348 | 8.64 |
hydrolase activity | GO:0016787 | 1.9 |
hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
beta-glucosidase activity | GO:0008422 | 7.95 |
catalytic activity | GO:0003824 | 1.05 |
hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |