| Disease ID | Disease name | Source of annotation with ERLIN2 | 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
| GO term | GO ID | GO IC |
|---|---|---|
| ubiquitin protein ligase binding | GO:0031625 | 4.17 |
| ubiquitin-like protein ligase binding | GO:0044389 | 4.15 |
| cholesterol binding | GO:0015485 | 6.1 |
| alcohol binding | GO:0043178 | 5.53 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| kinase activity | GO:0016301 | 2.93 |
| lipid binding | GO:0008289 | 3.26 |
| enzyme binding | GO:0019899 | 2.27 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| sterol binding | GO:0032934 | 5.98 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein kinase activity | GO:0004672 | 3.27 |
| steroid binding | GO:0005496 | 5.24 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| protein tyrosine kinase activity | GO:0004713 | 4.54 |