Disease ID | Disease name | Source of annotation with BLOC1S3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS203300 | HERMANSKY-PUDLAK SYNDROME | OMIM | link to OMIM | 9 | BLOC1S6, HPS5, HPS3, HPS6, AP3B1, DTNBP1, BLOC1S3, HPS1, HPS4 |
Download the gene annotation in CSV format
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 |
---|---|---|
substrate-specific transmembrane transporter activity | GO:0022891 | 2.9 |
protein transporter activity | GO:0008565 | 5.17 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
macromolecule transmembrane transporter activity | GO:0022884 | 6.65 |
transporter activity | GO:0005215 | 2.57 |
protein transmembrane transporter activity | GO:0008320 | 6.79 |
transmembrane transporter activity | GO:0022857 | 2.82 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |