Table 1.
Identified PID candidate genes
| Symbol | Full name | GeneID | Known diseases |
|---|---|---|---|
| CD4 | CD4 antigen (p55) | 920 | 186 940 CD4+ lymphocyte deficiency |
| CD9 | CD9 antigen (p24) | 928 | |
| CTSG | cathepsin G | 1511 | |
| FADD | Fas-associating protein with death domain | 8772 | |
| FYN | Protein-tyrosine kinase fyn | 2534 | |
| GZMB | Granzyme B | 3002 | |
| IGF1R | Insulin-like growth factor 1 receptor | 3480 | 147 370 Intrauterine and postnatal growth retardation |
| IL2RB | Interleukin 2 receptor, β | 3560 | |
| INSR | Insulin receptor | 3643 | 610 549 Diabetes mellitus, insulin-resistant, with acanthosis nigricans |
| 609 968 Hyperinsulinemic hypoglycemia | |||
| 246 200 Leprechaunism | |||
| 262 190 Rabson–Mendenhall syndrome | |||
| IRAK1 | Interleukin-1 receptor-associated kinase 1 | 3654 | |
| ITGB1 | β 1 integrin | 3688 | |
| JAK1 | Janus kinase 1 | 3716 | |
| JAK2 | Janus kinase 2 | 3717 | 600 880 Budd–Chiari syndrome |
| 601 626 Leukemia, acute myelogenous | |||
| 254 450 Myelofibrosis, idiopathic | |||
| 263 300 Myeloproliferative disorder with erythrocytosis—polycythemia vera | |||
| 187 950 Thrombocythemia, essential | |||
| KIT | v-Kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | 3815 | 606 764 Gastrointestinal stromal tumor, somatic |
| 273 300 Germ cell tumors | |||
| 273 300 Mast cell leukemia—mastocytosis with associated hematologic disorder—piebaldism | |||
| LRP1 | Low-density lipoprotein-related protein 1 | 4035 | |
| MAPK14 | Mitogen-activated protein kinase 14 | 1432 | |
| PDGFRB | Platelet-derived growth factor receptor, β-polypeptide | 5159 | 131 440 Myelomonocytic leukemia, chronic—myeloproliferative disorder with eosinophilia |
| RELA | v-Rel reticuloendotheliosis viral oncogene homolog A | 5970 | |
| RIPK1 | Receptor (TNFRSF)-interacting serine-threonine kinase 1 | 8737 | |
| SOCS1 | Suppressor of cytokine signaling 1 | 8651 | |
| STAT3 | Signal transducer and activator of transcription 3 | 6774 | |
| THY1 | Thy-1 cell surface antigen | 7070 | |
| TRAF1 | TNF receptor-associated factor 1 | 7185 | |
| TRAF2 | TNF receptor-associated factor 2 | 7186 | |
| TYK2 | Tyrosine kinase 2 | 7297 | |
| XRCC5 | X-ray repair complementing defective repair in Chinese hamster cells 5 | 7520 |
For each genes, the HGNC approved symbol, full name, Entrez GeneID and OMIM code for known diseases is provided.