Disease ID | Disease name | Source of annotation with AP3B1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS203300 | HERMANSKY-PUDLAK SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 9 | BLOC1S6, HPS5, HPS3, HPS6, AP3B1, DTNBP1, BLOC1S3, HPS1, HPS4 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Lysosome | hsa04142 | 5.78 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Membrane Trafficking | R-HSA-199991 | 5.26 |
trans-Golgi Network Vesicle Budding | R-HSA-199992 | 6.85 |
Golgi Associated Vesicle Biogenesis | R-HSA-432722 | 7.23 |
Clathrin derived vesicle budding | R-HSA-421837 | 6.85 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
GO term | GO ID | GO IC |
---|---|---|
GTP-dependent protein binding | GO:0030742 | 6.91 |
enzyme binding | GO:0019899 | 2.27 |
protein phosphatase binding | GO:0019903 | 4.93 |
phosphatase binding | GO:0019902 | 4.63 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |