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| Gene ID | Symbol | Synonyms | Official Full Name | Location | SZ group ? | Functional group ? |
|---|---|---|---|---|---|---|
| 64421 | DCLRE1C | A-SCID | DCLREC1C | RS-SCID | SCIDA | SNM1C | DNA cross-link repair 1C | 10p13 | CV:PGCnp DMG:Jaffe_2016 DMG:Wockner_2014 Expression | |
| 29760 | BLNK | AGM4 | BASH | BLNK-S | LY57 | SLP-65 | SLP65 | bca | B-cell linker | 10q23.2-q23.33 | CV:GWASdb CV:PGCnp DMG:Wockner_2014 DNM:Gulsuner_2013 Expression | G2Cdb.humanPSD G2Cdb.humanPSP |
| 5896 | RAG1 | RAG-1 | RNF74 | recombination activating gene 1 | 11p13 | CV:PGCnp | |
| 915 | CD3D | CD3-DELTA | IMD19 | T3D | CD3d molecule | 11q23 | CV:PGCnp GO_Annotation GSMA_I | |
| 916 | CD3E | IMD18 | T3E | TCRE | CD3e molecule | 11q23 | CV:PGCnp DMG:vanEijk_2014 GO_Annotation GSMA_I | |
| 57379 | AICDA | AID | ARP2 | CDA2 | HEL-S-284 | HIGM2 | activation-induced cytidine deaminase | 12p13 | CV:PGCnp PMID:cooccur | |
| 920 | CD4 | CD4mut | CD4 molecule | 12p13.31 | Association CV:PGCnp GO_Annotation PMID:cooccur | |
| 7374 | UNG | DGU | HIGM4 | HIGM5 | UDG | UNG1 | UNG15 | UNG2 | uracil DNA glycosylase | 12q23-q24.1 | CV:PGCnp | |
| 5994 | RFXAP | - | regulatory factor X associated protein | 13q14 | CV:GWASdb CV:PGCnp | |
| 930 | CD19 | B4 | CVID3 | CD19 molecule | 16p11.2 | GSMA_IIE PMID:cooccur | |
| 4261 | CIITA | C2TA | CIITAIV | MHC2TA | NLRA | class II, major histocompatibility complex, transactivator | 16p13 | CV:PGCnp | |
| 23495 | TNFRSF13B | CD267 | CVID | CVID2 | IGAD2 | RYZN | TACI | TNFRSF14B | tumor necrosis factor receptor superfamily member 13B | 17p11.2 | CV:PGCnp DMG:Wockner_2014 | |
| 3718 | JAK3 | JAK-3 | JAK3_HUMAN | JAKL | L-JAK | LJAK | Janus kinase 3 | 19p13.1 | CV:PGCnp | |
| 973 | CD79A | IGA | MB-1 | CD79a molecule | 19q13.2 | DMG:vanEijk_2014 GO_Annotation | |
| 3932 | LCK | IMD22 | LSK | YT16 | p56lck | pp58lck | LCK proto-oncogene, Src family tyrosine kinase | 1p34.3 | CV:PGCnp DMG:vanEijk_2014 PMID:cooccur | G2Cdb.humanPSD G2Cdb.humanPSP |
| 958 | CD40 | Bp50 | CDW40 | TNFRSF5 | p50 | CD40 molecule | 20q12-q13.2 | CV:GWASdb CV:PGCnp PMID:cooccur | |
| 100 | ADA | - | adenosine deaminase | 20q13.12 | CV:PGCnp Network PMID:cooccur | |
| 326 | AIRE | AIRE1 | APECED | APS1 | APSI | PGA1 | autoimmune regulator | 21q22.3 | CV:GWASdb CV:PGCnp | |
| 3543 | IGLL1 | 14.1 | AGM2 | CD179b | IGL1 | IGL5 | IGLJ14.1 | IGLL | IGO | IGVPB | VPREB2 | immunoglobulin lambda like polypeptide 1 | 22q11.23 | CV:GWASdb CV:PGCnp CV:PheWAS GSMA_I | |
| 115650 | TNFRSF13C | BAFF-R | BAFFR | BROMIX | CD268 | CVID4 | prolixin | tumor necrosis factor receptor superfamily member 13C | 22q13.1-q13.31 | CV:PGCnp DNM:McCarthy_2014 | |
| 925 | CD8A | CD8 | Leu2 | MAL | p32 | CD8a molecule | 2p12 | CV:PGCnp DMG:vanEijk_2014 DMG:Wockner_2014 GO_Annotation GSMA_I | |
| 926 | CD8B | CD8B1 | LEU2 | LY3 | LYT3 | P37 | CD8b molecule | 2p12 | CV:PGCnp GO_Annotation GSMA_I | |
| 7535 | ZAP70 | SRK | STCD | STD | TZK | ZAP-70 | zeta chain of T cell receptor associated protein kinase 70kDa | 2q12 | CV:PGCnp GO_Annotation GSMA_I | |
| 6890 | TAP1 | ABC17 | ABCB2 | APT1 | D6S114E | PSF-1 | PSF1 | RING4 | TAP1*0102N | TAP1N | transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) | 6p21.3 | CV:GWASdb CV:PGCnp DMG:Jaffe_2016 DMG:Wockner_2014 GSMA_I PMID:cooccur | |
| 6891 | TAP2 | ABC18 | ABCB3 | APT2 | D6S217E | PSF-2 | PSF2 | RING11 | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | 6p21.3 | CV:GWASdb CV:PGCnp GSMA_I PMID:cooccur | |
| 3561 | IL2RG | CD132 | CIDX | IL-2RG | IMD4 | P64 | SCIDX | SCIDX1 | interleukin 2 receptor subunit gamma | Xq13.1 | PMID:cooccur | |
| 695 | BTK | AGMX1 | AT | ATK | BPK | IMD1 | PSCTK1 | XLA | Bruton tyrosine kinase | Xq21.33-q22 | CV:PGCnp DNM:Kranz_2015 Network PMID:cooccur | |
| 959 | CD40LG | CD154 | CD40L | HIGM1 | IGM | IMD3 | T-BAM | TNFSF5 | TRAP | gp39 | hCD40L | CD40 ligand | Xq26 | DMG:vanEijk_2014 | |