Disease ID | Disease name | Source of annotation with AP4B1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS303350 | SPASTIC PARAPLEGIA | ClinVar, OMIM | 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 |
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 |
Lysosome Vesicle Biogenesis | R-HSA-432720 | 7.85 |
Clathrin derived vesicle budding | R-HSA-421837 | 6.85 |
Vesicle-mediated transport | R-HSA-5653656 | 4.33 |
GO term | GO ID | GO IC |
---|---|---|
protein transporter activity | GO:0008565 | 5.17 |
transporter activity | GO:0005215 | 2.57 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |