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Disorder Names

Ichthyosis(ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14, CAST, CDSN, CLDN1, CSTA, CTSC, CYP4F22, DKC1, DOLK, DSG1, DSP, EBP, ELOVL4, ENPP1, ERCC2, ERCC3, FERMT1, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, GTF2H5, HPGD, JUP, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LIPH, LIPN, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MVK, NHP2, NIPAL4, NLRP1, NOP10, NSDHL, PEX5, PEX7, PHGDH, PHYH, PIGL, PKP1, PNPLA1, POMP, PSAT1, PTEN, RHBDF2, RSPO1, SLC27A4, SLCO2A1, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SUMF1, TAT, TERC, TERT, TGM1, TINF2, TP63, TRPV3, VIPAS39, VPS33B, WNT10A, WRAP53)

IFAP syndrome with or without BRESHECK syndrome(ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, FGF10, FGFR2, FGFR3, FLNA, FOXN1, GJA1, GJB2, GJB6, GRHL2, HCCS, IFT122, IFT43, IKBKG, KRT14, KRT16, KRT17, KRT81, KRT83, KRT85, KRT86, MBTPS2, MPLKIP, MSX1, NFKBIA, NOP10, OFD1, PEX1, PEX6, PIGL, PKP1, PNPLA6, PORCN, PVRL1, PVRL4, RECQL4, RIPK4, RMRP, RNF113A, ROGDI, SETBP1, TBC1D24, TBX3, TERC, TP63, TRAF6, TRPS1, TWIST2, UBR1, WDR19, WNT10A)

IFAP syndrome with or without BRESHECK syndrome(ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH, CFHR5, COL4A1, CPT2, DHCR7, FGF20, FN1, FREM1, GATA3, GPC3, H19, HSD11B2, IFT140, JAG1, KAT6B, KMT2D, LRP4, MBTPS2, MKKS, NEK8, NIPBL, NOTCH2, NPHP3, NSD1, SALL1, SALL4, SLC17A3, SLC2A9, SPRY2, TMEM138, TMEM216, VIPAS39, VPS33B, WNT4)

Iminoglycinuria(SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9)

Iminoglycinuria(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Inclusion body myopathy(ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COL9A3, CPT2, CRYAB, DES, DNM2, DYSF, FHL1, FKBP14, FLNC, GBE1, GFER, GNE, GYG1, HADHA, HADHB, HRAS, HSPG2, ISCU, ITGA7, KBTBD13, KLHL9, LAMP2, LDB3, LMNA, MATR3, MEGF10, MTAP, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYO18B, MYOT, MYPN, NEB, OPA1, ORAI1, PABPN1, PGAM2, PNPLA2, PUS1, RRM2B, RYR1, SEPN1, SGCG, SIL1, SLC16A1, SLC5A7, SQSTM1, STIM1, SUCLA2, SUCLG1, TAZ, TK2, TNNT1, TPM2, TPM3, TRIM32, TSFM, TTN, VCP, VMA21, YARS2)

Incontinentia pigmenti(ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, IKBKG, KIT, KITLG, KRT14, KRT5, LYST, MITF, MLPH, MYO5A, NHP2, NLRP1, NOP10, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, STK11, TERT, TINF2, TYR, TYRP1, WRAP53)

Inosine triphosphatase deficiency(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Intellectual disability(ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ATP10A, ATP6AP2, ATP7A, ATP8A2, ATP13A2, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRWD3, C12orf57, CA8, CACNA1A, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CDH15, CDKL5, CEP290, CEP41, CHD2, CHKB, CIC, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, CRADD, CRBN, CREBBP, CTNNB1, CTSD, CUL4B, DCAF17, DCX, DEAF1, DIP2B, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK8, DPP6, DYNC1H1, DYRK1A, EFHC2, EFTUD2, EHMT1, ELK1, ELOVL4, ELP2, ENTPD1, EP300, EPB41L1, ESCO2, FGD1, FGFR2, FKRP, FKTN, FLNA, FMN2, FMR1, FOXP1, FRMPD4, FTSJ1, GAMT, GATM, GDI1, GFAP, GNB5, GPC3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, HDAC4, HDAC8, HEPACAM, HNRNPU, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IGF1, IL1RAPL1, INPP5E, IQSEC2, IRX5, ISPD, ITPR1, KAT6B, KCNJ10, KCNK9, KCTD7, KDM5C, KIAA1033, KIAA2022, KIF11, KIF1A, KIF7, KIRREL3, L1CAM, LAMA1, LAMP2, LARGE, LINS, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MGAT2, MTHFR, MYT1L, NDP, NDST1, NIPBL, NLGN4X, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OMG, OPHN1, OTC, PAFAH1B1, PAK3, PAX6, PCDH19, PDHA1, PDHX, PEX11B, PEX7, PGK1, PHF6, PHF8, PIGL, PIGO, PIGV, PLP1, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP2R1A, PPT1, PQBP1, PRMT7, PRPS1, PRSS12, PTCHD1, RAB39B, RAB3GAP2, RAB40AL, RAD21, RBBP8, RPGRIP1L, RPS6KA3, SATB2, SETBP1, SHROOM4, SIL1, SLC16A1, SLC16A2, SLC2A1, SLC4A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOBP, SOX3, SOX5, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STXBP1, SYNGAP1, SYP, TAF2, TBC1D24, TBCE, TBL1XR1, TCF4, TCTN1, TCTN2, TECR, TMCO1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TRIO, TSPAN7, TTC21B, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, WDR81, WWOX, ZBTB16, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF41, ZNF674, ZNF711, ZNF81)

Intrinsic factor deficiency(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Iron-refractory iron deficiency anemia(ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GATA1, HAMP, HBB, HBD, HBG1, HBG2, HFE, HFE2, HMBS, HMOX1, HSPA9, PPOX, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, SLC25A38, SLC40A1, SLC4A1, SPTA1, SPTB, TFR2, TMPRSS6, UROD, UROS)

Iron-sulfur (Fe-S) cluster biogenesis(ABCB7, BOLA3, CYB5A, CYB5R3, FXN, HTRA2, ISCU, NFU1)

Isobutyryl-CoA dehydrogenase deficiency(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Isolated renal hypomagnesemia(CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6)

Isovaleric acidemia(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Idiopathic juvenile osteoporosis(ALPL, ANO5, ANTXR2, ATP6V0A2, B4GALT7, BMP1, CALCR, COL1A1, COL1A2, CRTAP, CTC1, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MMP2, NOTCH2, P3H1, PLOD2, PLOD3, PPIB, PYCR1, SERPINF1, SERPINH1, SLC7A7, SP7, TMEM165, VDR, XYLT2)

Ischiocoxopodopatellar syndrome(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

IVIC syndrome(ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2, FBXW4, FGF10, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLE1, GSC, HDAC8, KDM6A, KMT2D, LMBR1, LRP4, MYH3, NIPBL, NSDHL, PAX3, PITX1, POP1, PTH1R, RAD21, RBM8A, RECQL4, ROR2, SALL1, SALL4, SF3B4, SHOX, SLC26A2, SMC1A, SMC3, SMOC1, TBL1XR1, TBX15, TBX3, TBX5, TNNI2, TNNT3, TP63, TPM2, TRPV4, WDR19, WNT10B, WNT3, WNT5A, WNT7A, ZIC3)

IAPP(IAPP)

IBSP(IBSP)

ICAM1(ICAM1)

ICAM4(ICAM4)

ICAM5(ICAM5)

ICK(ICK)

ICOS(ICOS)

ID3(ID3)

IDE(IDE)

IDH1(IDH1)

IDH2(IDH2)

IDH3B(IDH3B)

IDO1(IDO1)

IDS(IDS)

IDUA(IDUA)

IER3IP1(IER3IP1)

IFI30(IFI30)

IFI44L(IFI44L)

IFIH1(IFIH1)

IFITM3(IFITM3)

IFITM5(IFITM5)

IFNA10(IFNA10)

IFNA17(IFNA17)

IFNA2(IFNA2)

IFNAR1(IFNAR1)

IFNAR2(IFNAR2)

IFNG(IFNG)

IFNGR1(IFNGR1)

IFNGR2(IFNGR2)

IFNL3(IFNL3)

IFRD1(IFRD1)

IFT122(IFT122)

IFT140(IFT140)

IFT43(IFT43)

IFT80(IFT80)

IGBP1(IGBP1)

IGF1(IGF1)

IGF1R(IGF1R)

IGF2(IGF2)

IGF2R(IGF2R)

IGFALS(IGFALS)

IGFBP1(IGFBP1)

IGFBP3(IGFBP3)

IGFBP5(IGFBP5)

IGFBP7(IGFBP7)

IGHA1(IGHA1)

IGHG2(IGHG2)

IGHM(IGHM)

IGHMBP2(IGHMBP2)

IGKV(IGKV)

IGLL1(IGLL1)

IHH(IHH)

IKBIP(IKBIP)

IKBKAP(IKBKAP)

IKBKG(IKBKG)

IL10(IL10)

IL10RA(IL10RA)

IL10RB(IL10RB)

IL11RA(IL11RA)

IL12A(IL12A)

IL12B(IL12B)

IL12RB1(IL12RB1)

IL12RB2(IL12RB2)

IL13(IL13)

IL16(IL16)

IL17A(IL17A)

IL17F(IL17F)

IL17RA(IL17RA)

IL17RB(IL17RB)

IL17REL(IL17REL)

IL18(IL18)

IL18R1(IL18R1)

IL18RAP(IL18RAP)

IL19(IL19)

IL1A(IL1A)

IL1B(IL1B)

IL1R1(IL1R1)

IL1RAPL1(IL1RAPL1)

IL1RL1(IL1RL1)

IL1RN(IL1RN)

IL2(IL2)

IL20RA(IL20RA)

IL20RB(IL20RB)

IL21(IL21)

IL21R(IL21R)

IL23R(IL23R)

IL2RA(IL2RA)

IL2RG(IL2RG)

IL3(IL3)

IL31RA(IL31RA)

IL36RN(IL36RN)

IL4(IL4)

IL4R(IL4R)

IL5(IL5)

IL6(IL6)

IL6R(IL6R)

IL7(IL7)

IL7R(IL7R)

IL8(IL8)

IL9(IL9)

IL9R(IL9R)

ILDR1(ILDR1)

ILK(ILK)

IMMP2L(IMMP2L)

IMMT(IMMT)

IMPA2(IMPA2)

IMPAD1(IMPAD1)

IMPDH1(IMPDH1)

IMPDH2(IMPDH2)

IMPG2(IMPG2)

INF2(INF2)

INHA(INHA)

INMT(INMT)

INPP4A(INPP4A)

INPP5E(INPP5E)

INS(INS)

INSIG1(INSIG1)

INSIG2(INSIG2)

INSL3(INSL3)

INSL6(INSL6)

INSR(INSR)

INVS(INVS)

IQCB1(IQCB1)

IQGAP1(IQGAP1)

IQGAP2(IQGAP2)

IQGAP3(IQGAP3)

IQSEC2(IQSEC2)

IRAK1(IRAK1)

IRAK3(IRAK3)

IRAK4(IRAK4)

IRF1(IRF1)

IRF2(IRF2)

IRF4(IRF4)

IRF5(IRF5)

IRF6(IRF6)

IRF7(IRF7)

IRF8(IRF8)

IRGM(IRGM)

IRS1(IRS1)

IRS2(IRS2)

IRS4(IRS4)

IRX4(IRX4)

IRX5(IRX5)

ISCU(ISCU)

ISL1(ISL1)

ISPD(ISPD)

ISYNA1(ISYNA1)

ITCH(ITCH)

ITGA11(ITGA11)

ITGA2(ITGA2)

ITGA2B(ITGA2B)

ITGA3(ITGA3)

ITGA4(ITGA4)

ITGA6(ITGA6)

ITGA7(ITGA7)

ITGA9(ITGA9)

ITGAE(ITGAE)

ITGAM(ITGAM)

ITGB2(ITGB2)

ITGB3(ITGB3)

ITGB4(ITGB4)

ITIH1(ITIH1)

ITIH3(ITIH3)

ITIH4(ITIH4)

ITIH6(ITIH6)

ITK(ITK)

ITM2B(ITM2B)

ITPA(ITPA)

ITPKC(ITPKC)

ITPR1(ITPR1)

ITPR3(ITPR3)

ITSN2(ITSN2)

IVD(IVD)

IYD(IYD)

Inflammatory bowel disease 25, early onset, autosomal recessive(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Inflammatory bowel disease 28, early onset, autosomal recessive(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Inflammatory skin and bowel disease, neonatal, 1(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Interleukin 1 receptor antagonist deficiency(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Immunodeficiency 10(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 14(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 17, CD3 gamma deficient(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 18(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 19(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 20(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 25(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 26, with or without neurologic abnormalities(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 35(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 37(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 39(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 43(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 45(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 46(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 48(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 8(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency 9(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency due to purine nucleoside phosphorylase deficiency(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency with hyper-IgM, type 3(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency, common variable, 11(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency, common variable, 12(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency, common variable, 5(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency, primary, autosomal recessive, IL21R-related(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency, X-linked, with hyper-IgM(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency-centromeric instability-facial anomalies syndrome 1(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency-centromeric instability-facial anomalies syndrome 2(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Immunodeficiency due to ficolin 3 deficiency(C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CFD, CFH, CFHR5, CFI, CFP, COLEC11, CR2, FCN3, ITGB2, MASP2, SERPING1, THBD)

Immunodeficiency 21(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 27A, mycobacteriosis(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 28, mycobacteriosis(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 29, mycobacteriosis(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 30(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 31A(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 31B(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 31C(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 32A, 32B(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 32B(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 34, mycobacteriosis, X-linked(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Immunodeficiency 20(CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, STAT1, TMC6, TMC8, TRAF3IP2)

Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive(CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, STAT1, TMC6, TMC8, TRAF3IP2)

IRAK4 deficiency(CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, STAT1, TMC6, TMC8, TRAF3IP2)

Immune dysregulation diseases(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Immunodeficiency 41 with lymphoproliferation and autoimmunity(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Immunodeficiency 14(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunodeficiency 36(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunodeficiency with hyper IgM, type 5(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunodeficiency with hyper-IgM, type 2(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunodeficiency with hyper-IgM, type 3(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunodeficiency, common variable, 1(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunodeficiency, common variable, 2(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunodeficiency, common variable, 3(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunodeficiency, common variable, 6(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunodeficiency, common variable, 7(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Immunoglobulin A deficiency 2(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)