| Disease ID | Disease name | Source of annotation with PTPRC | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 608971 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE | ClinVar, OMIM | link to OMIM | 2 | IL7R, PTPRC |
| 609532 | HEPATITIS C VIRUS, SUSCEPTIBILITY TO | ClinVar, OMIM | link to OMIM | 6 | IFNG, PTPRC, IFNL3, KRT8, KRT18, CCR5 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| T cell receptor signaling pathway | hsa04660 | 6.01 |
| Primary immunodeficiency | hsa05340 | 7.52 |
| Cell adhesion molecules (CAMs) | hsa04514 | 5.36 |
| Fc gamma R-mediated phagocytosis | hsa04666 | 6.21 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Other semaphorin interactions | R-HSA-416700 | 8.73 |
| Phosphorylation of CD3 and TCR zeta chains | R-HSA-202427 | 7.73 |
| Immune System | R-HSA-168256 | 2.37 |
| TCR signaling | R-HSA-202403 | 6.64 |
| Semaphorin interactions | R-HSA-373755 | 6.92 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Adaptive Immune System | R-HSA-1280218 | 3.19 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| GO term | GO ID | GO IC |
|---|---|---|
| hydrolase activity | GO:0016787 | 1.9 |
| enzyme binding | GO:0019899 | 2.27 |
| phosphatase activity | GO:0016791 | 4.11 |
| protein binding | GO:0005515 | 0.46 |
| molecular transducer activity | GO:0060089 | 2.32 |
| protein kinase binding | GO:0019901 | 3.44 |
| catalytic activity | GO:0003824 | 1.05 |
| protein tyrosine phosphatase activity | GO:0004725 | 5.09 |
| transmembrane receptor protein tyrosine phosphatase activity | GO:0005001 | 6.91 |
| phosphoprotein phosphatase activity | GO:0004721 | 4.55 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| kinase binding | GO:0019900 | 3.32 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| phosphoric ester hydrolase activity | GO:0042578 | 3.82 |
| signaling receptor activity | GO:0038023 | 2.49 |
| transmembrane receptor protein phosphatase activity | GO:0019198 | 6.91 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| receptor activity | GO:0004872 | 2.32 |