Disease ID | Disease name | Source of annotation with GBA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
230900 | GAUCHER DISEASE, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GBA |
608013 | GAUCHER DISEASE, PERINATAL LETHAL | OMIM | link to OMIM | 1 | GBA |
127750 | DEMENTIA, LEWY BODY | OMIM | link to OMIM | 3 | SNCB, GBA, SNCA |
230800 | GAUCHER DISEASE, TYPE I | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GBA |
PS168600 | PARKINSON DISEASE | ClinVar, OMIM | link to OMIM | 30 | ATP13A2, FGF20, VPS13C, DNAJC13, ATXN2, PINK1, CHCHD2, ADH1C, UCHL1, GIGYF2, SYNJ1, PODXL, HTRA2, LRRK2, TBP, PARK2, ATXN8OS, SNCAIP, GBA, SNCA, NR4A2, PLA2G6, GLUD2, PARK7, ATXN3, MAPT, DNAJC6, EIF4G1, FBXO7, VPS35 |
231005 | GAUCHER DISEASE, TYPE IIIC | ClinVar, OMIM | link to OMIM | 1 | GBA |
231000 | GAUCHER DISEASE, TYPE III | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GBA |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Other glycan degradation | hsa00511 | 8.45 |
Lysosome | hsa04142 | 5.78 |
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 |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
glucosylceramidase activity | GO:0004348 | 8.64 |
hydrolase activity, acting on glycosyl bonds | GO:0016798 | 4.91 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
hydrolase activity, hydrolyzing O-glycosyl compounds | GO:0004553 | 5.14 |
receptor binding | GO:0005102 | 2.43 |