Search our Test Catalogue

Contact Us

For assistance with
ordering one of our tests
call 1-800-1200-695.



Disorder Names

  • C3 glomerulopathy (ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH,....)
  • CAMRQ syndrome (ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, ....)
  • Canavan disease (AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, C....)
  • CAP myopathy (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Capillary malformation-arteriovenous malformation (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • CAPOS syndrome (ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, ....)
  • Carbamoyl phosphate synthetase I deficiency (AARS, ABCB6, ACO2, AFG3L2, AK2, BTD, C19orf12, CISD2, COX4I2, CPS1, CYCS, CYP11A....)
  • Cardiofaciocutaneous syndrome (AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, ....)
  • Cardiomyopathies (ABCC9, ACE, ACTC1, ACTN2, AGT, ANKRD1, BAG3, BMP10, CASQ2, CHRM2, COX15, CRYAB, ....)
  • Carney complex (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Carnitine deficiency, systemic primary (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Carnitine-acylcarnitine translocase deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • Carpenter syndrome (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Catecholaminergic polymorphic ventricular tachycardia (ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ....)
  • CEDNIK syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Central core disease (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Centronuclear myopathy (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Cerebral cavernous malformations (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • Cerebral creatine deficiency syndrome (MT, GATM, SLC6A8....)
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Cerebrooculofacioskeletal syndrome (BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH....)
  • Cerebrooculofacioskeletal syndrome (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Cerebrotendinous xanthomatosis (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Chanarin-Dorfman syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Charcot-Marie-Tooth disease (AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10or....)
  • Chediak-Higashi syndrome (ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143....)
  • Chediak-Higashi syndrome (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • CHILD syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Caffey disease (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • CHIME syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Choanal atresia and lymphoedema (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • Chondrodysplasia punctata (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Campomelic dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Choroideremia (CHM....)
  • Christianson syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Chudley-McCullough syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Chylomicron retention disease (ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, A....)
  • Camptosynpolydactyly, complex (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • Camurati-Engelmann disease (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Citrullinemia (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • CK syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • CK syndrome (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Cardiofaciocutaneous syndrome (BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, SHOC....)
  • COACH syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Cobblestone cortical malformation (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Cockayne syndrome (BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH....)
  • Coffin-Lowry syndrome (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Coffin-Lowry syndrome (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Coffin-Lowry syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Coffin-Siris syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Carney complex (PRKAR1A....)
  • Cohen syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Cole disease (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Combined deficiency of vitamin K-dependent clotting factors (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Combined oxidative phosphorylation deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Complement factor H deficiency (ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH,....)
  • Cone rod dystrophy (ABCA4, ADAM9, AIPL1, ALMS1, C8orf37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNG....)
  • Carney-Stratakis syndrome (SDHB, SDHD, SDHC....)
  • Congenital disorders of glycosylation (ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B3GNT....)
  • Congenital disorders of glycosylation (ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B3GNT....)
  • Congenital fiber type disproportion myopathy (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Congenital generalized lipodystrophies (AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS,....)
  • Congenital ichthyosis erythroderma (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Congenital Ichthyosis, Late onset (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Congenital lactase deficiency (AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, ....)
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Congenital myasthenic syndrome (AGRN, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, LAMB2....)
  • Congenital myotonia (ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, ....)
  • Congenital nephrotic syndrome of the Finnish type (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Congenital stationary night blindness (CABP4, CACNA1F, GNAT1, GNB3, GPR179, GRK1, GRM6, PDE6B, RDH5, RHO, SAG, SLC24A1,....)
  • Conradi-Hünermann-Happle syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Corneal dystrophy (CYP4V2, DCN, KRT12, KRT3, PAX6, PIKFYVE, SLC4A11, TACSTD2, TGFBI, UBIAD1, VSX1, ....)
  • Cornelia de Lange syndrome (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Cornelia de Lange syndrome (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Carpenter syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Cornification disorders (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Costello syndrome (AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, ....)
  • Cartilage-hair hypoplasia (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • CATSHL syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Cowchock syndrome (AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10or....)
  • Cowden syndrome 1 (AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, ....)
  • CPT deficiency (ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CA....)
  • CPT deficiency (AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMA....)
  • Cenani-Lenz syndactyly syndrome (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • Cranioectodermal dysplasia (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Cenani-Lenz-like non-syndromic oligosyndactyly (CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, ....)
  • CHILD syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Chondrodysplasia punctata (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Ciliopathies with major skeletal involvement (ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2....)
  • CINCA syndrome (ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, ....)
  • Cleidocranial dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • CRASH syndrome (ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6....)
  • Crigler-Najjar syndrome (ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR....)
  • Coffin-Siris syndrome (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Curry-Hall syndrome (ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EV....)
  • Colon cancer (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • Cutaneous vasculature disorders (ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTP....)
  • Cutis laxa (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Cystathioninuria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Cystinosis (AGL, ALDOB, ATP7B, COX10, COX6B1, CTNS, EYA1, FAH, FASTKD2, G6PC, GALT, GLA, HPR....)
  • Cystinosis (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Cystinuria (SLC1A1, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9....)
  • Cystinuria (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Colorectal cancer (APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK....)
  • Congenital contractural arachnodactyly (DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, ....)
  • Cornelia de Lange syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Costello syndrome (BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, SHOC....)
  • Costello syndrome (HRAS....)
  • Cousin syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Cowden syndrome (CS) (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2,....)
  • Craniodiaphyseal dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Cranioectodermal dysplasia (ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2....)
  • Craniofacial-deafness-hand syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Craniofacial-skeletal-dermatologic dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Craniofrontonasal syndrome (Craniofrontonasal dysostosis) (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Craniolenticulosutural dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • Cranioosteoarthropathy (ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, ....)
  • Crouzon syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Curry-Hall syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Czech dysplasia (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • C10orf11 (C10orf11....)
  • C10orf137 (C10orf137....)
  • C10orf2 (C10orf2....)
  • C12orf10 (C12orf10....)
  • C12orf57 (C12orf57....)
  • C12orf65 (C12orf65....)
  • C19orf12 (C19orf12....)
  • C1GALT1 (C1GALT1....)
  • C1QA (C1QA....)
  • C1QB (C1QB....)
  • C1QC (C1QC....)
  • C1QTNF5 (C1QTNF5....)
  • C1R (C1R....)
  • C1S (C1S....)
  • C2 (C2....)
  • C2orf71 (C2orf71....)
  • C3 (C3....)
  • C3AR1 (C3AR1....)
  • C4B (C4B....)
  • C4BPA (C4BPA....)
  • C5 (C5....)
  • C5AR2 (C5AR2....)
  • C5orf42 (C5orf42....)
  • C6 (C6....)
  • C6orf15 (C6orf15....)
  • C7 (C7....)
  • C7orf10 (C7orf10....)
  • C8A (C8A....)
  • C8B (C8B....)
  • C8orf37 (C8orf37....)
  • C9 (C9....)
  • C9orf72 (C9orf72....)
  • CA1 (CA1....)
  • CA12 (CA12....)
  • CA2 (CA2....)
  • CA4 (CA4....)
  • CA6 (CA6....)
  • CA8 (CA8....)
  • CABIN1 (CABIN1....)
  • CABP4 (CABP4....)
  • CACNA1A (CACNA1A....)
  • CACNA1C (CACNA1C....)
  • CACNA1D (CACNA1D....)
  • CACNA1E (CACNA1E....)
  • CACNA1F (CACNA1F....)
  • CACNA1G (CACNA1G....)
  • CACNA1H (CACNA1H....)
  • CACNA1S (CACNA1S....)
  • CACNA2D1 (CACNA2D1....)
  • CACNA2D3 (CACNA2D3....)
  • CACNA2D4 (CACNA2D4....)
  • CACNB2 (CACNB2....)
  • CACNB4 (CACNB4....)
  • CACNG2 (CACNG2....)
  • CADM1 (CADM1....)
  • CALCA (CALCA....)
  • CALCR (CALCR....)
  • CALHM1 (CALHM1....)
  • CALM1 (CALM1....)
  • CALM3 (CALM3....)
  • CALR (CALR....)
  • CALR3 (CALR3....)
  • CAMK4 (CAMK4....)
  • CAMKK1 (CAMKK1....)
  • CAMKK2 (CAMKK2....)
  • CAMP (CAMP....)
  • CAMTA1 (CAMTA1....)
  • CANT1 (CANT1....)
  • CAPN10 (CAPN10....)
  • CAPN13 (CAPN13....)
  • CAPN3 (CAPN3....)
  • CARD14 (CARD14....)
  • CARD8 (CARD8....)
  • CARD9 (CARD9....)
  • CARTPT (CARTPT....)
  • CASC16 (CASC16....)
  • CASC5 (CASC5....)
  • CASK (CASK....)
  • CASP1 (CASP1....)
  • CASP10 (CASP10....)
  • CASP12 (CASP12....)
  • CASP2 (CASP2....)
  • CASP3 (CASP3....)
  • CASP5 (CASP5....)
  • CASP8 (CASP8....)
  • CASP9 (CASP9....)
  • CASQ2 (CASQ2....)
  • CASR (CASR....)
  • CAST (CAST....)
  • CAT (CAT....)
  • CATSPER1 (CATSPER1....)
  • CATSPER2 (CATSPER2....)
  • CATSPER3 (CATSPER3....)
  • CATSPER4 (CATSPER4....)
  • CAV1 (CAV1....)
  • CAV3 (CAV3....)
  • CBFB (CBFB....)
  • CBL (CBL....)
  • CBLB (CBLB....)
  • CBR1 (CBR1....)
  • CBR3 (CBR3....)
  • CBS (CBS....)
  • CBX2 (CBX2....)
  • CBX4 (CBX4....)
  • CC2D1A (CC2D1A....)
  • CC2D2A (CC2D2A....)
  • CCBE1 (CCBE1....)
  • CCDC103 (CCDC103....)
  • CCDC14 (CCDC14....)
  • CCDC170 (CCDC170....)
  • CCDC22 (CCDC22....)
  • CCDC28B (CCDC28B....)
  • CCDC39 (CCDC39....)
  • CCDC40 (CCDC40....)
  • CCDC50 (CCDC50....)
  • CCDC8 (CCDC8....)
  • CCDC88C (CCDC88C....)
  • CCHCR1 (CCHCR1....)
  • CCK (CCK....)
  • CCKAR (CCKAR....)
  • CCKBR (CCKBR....)
  • CCL11 (CCL11....)
  • CCL13 (CCL13....)
  • CCL17 (CCL17....)
  • CCL2 (CCL2....)
  • CCL22 (CCL22....)
  • CCL26 (CCL26....)
  • CCL3L1 (CCL3L1....)
  • CCL5 (CCL5....)
  • CCL7 (CCL7....)
  • CCM2 (CCM2....)
  • CCNA2 (CCNA2....)
  • CCND1 (CCND1....)
  • CCPG1 (CCPG1....)
  • CCR1 (CCR1....)
  • CCR2 (CCR2....)
  • CCR3 (CCR3....)
  • CCR5 (CCR5....)
  • CCR6 (CCR6....)
  • CCR7 (CCR7....)
  • CCRL2 (CCRL2....)
  • CCT5 (CCT5....)
  • CD109 (CD109....)
  • CD14 (CD14....)
  • CD151 (CD151....)
  • CD177 (CD177....)
  • CD19 (CD19....)
  • CD1A (CD1A....)
  • CD1E (CD1E....)
  • CD207 (CD207....)
  • CD209 (CD209....)
  • CD22 (CD22....)
  • CD226 (CD226....)
  • CD24 (CD24....)
  • CD244 (CD244....)
  • CD247 (CD247....)
  • CD27 (CD27....)
  • CD2AP (CD2AP....)
  • CD320 (CD320....)
  • CD36 (CD36....)
  • CD38 (CD38....)
  • CD3D (CD3D....)
  • CD3E (CD3E....)
  • CD3EAP (CD3EAP....)
  • CD3G (CD3G....)
  • CD4 (CD4....)
  • CD40 (CD40....)
  • CD40LG (CD40LG....)
  • CD44 (CD44....)
  • CD46 (CD46....)
  • CD5 (CD5....)
  • CD55 (CD55....)
  • CD58 (CD58....)
  • CD59 (CD59....)
  • CD72 (CD72....)
  • CD79A (CD79A....)
  • CD79B (CD79B....)
  • CD81 (CD81....)
  • CD86 (CD86....)
  • CD8A (CD8A....)
  • CD96 (CD96....)
  • CDA (CDA....)
  • CDAN1 (CDAN1....)
  • CDC42BPB (CDC42BPB....)
  • CDC6 (CDC6....)
  • CDC73 (CDC73....)
  • CDH1 (CDH1....)
  • CDH12 (CDH12....)
  • CDH13 (CDH13....)
  • CDH15 (CDH15....)
  • CDH23 (CDH23....)
  • CDH3 (CDH3....)
  • CDH5 (CDH5....)
  • CDH8 (CDH8....)
  • CDHR1 (CDHR1....)
  • CDK11A (CDK11A....)
  • CDK4 (CDK4....)
  • CDK5R1 (CDK5R1....)
  • CDK5RAP2 (CDK5RAP2....)
  • CDK5RAP3 (CDK5RAP3....)
  • CDK7 (CDK7....)
  • CDKL3 (CDKL3....)
  • CDKL5 (CDKL5....)
  • CDKN1A (CDKN1A....)
  • CDKN1B (CDKN1B....)
  • CDKN1C (CDKN1C....)
  • CDKN2A (CDKN2A....)
  • CDKN2B (CDKN2B....)
  • CDKN2B-AS1 (CDKN2B-AS1....)
  • CDKN2C (CDKN2C....)
  • CDON (CDON....)
  • CDSN (CDSN....)
  • CDT1 (CDT1....)
  • CDY2A (CDY2A....)
  • CEACAM16 (CEACAM16....)
  • CEBPA (CEBPA....)
  • CEBPE (CEBPE....)
  • CEL (CEL....)
  • CELSR1 (CELSR1....)
  • CENPJ (CENPJ....)
  • CEP135 (CEP135....)
  • CEP152 (CEP152....)
  • CEP290 (CEP290....)
  • CEP41 (CEP41....)
  • CEP57 (CEP57....)
  • CEP63 (CEP63....)
  • CEP68 (CEP68....)
  • CEP85L (CEP85L....)
  • CER1 (CER1....)
  • CERKL (CERKL....)
  • CERS6 (CERS6....)
  • CES1 (CES1....)
  • CES2 (CES2....)
  • CETP (CETP....)
  • CFB (CFB....)
  • CFC1 (CFC1....)
  • CFC1B (CFC1B....)
  • CFD (CFD....)
  • CFH (CFH....)
  • CFHR1 (CFHR1....)
  • CFHR2 (CFHR2....)
  • CFHR3 (CFHR3....)
  • CFHR4 (CFHR4....)
  • CFHR5 (CFHR5....)
  • CFI (CFI....)
  • CFL2 (CFL2....)
  • CFLAR (CFLAR....)
  • CFP (CFP....)
  • CFTR (CFTR....)
  • CGA (CGA....)
  • CGB (CGB....)
  • CHAT (CHAT....)
  • CHD1L (CHD1L....)
  • CHD2 (CHD2....)
  • CHD3 (CHD3....)
  • CHD6 (CHD6....)
  • CHD7 (CHD7....)
  • CHD8 (CHD8....)
  • CHDH (CHDH....)
  • CHEK2 (CHEK2....)
  • CHFR (CHFR....)
  • CHGA (CHGA....)
  • CHGB (CHGB....)
  • CHI3L1 (CHI3L1....)
  • CHI3L2 (CHI3L2....)
  • CHIA (CHIA....)
  • CHIT1 (CHIT1....)
  • CHKB (CHKB....)
  • CHL1 (CHL1....)
  • CHM (CHM....)
  • CHMP2B (CHMP2B....)
  • CHMP4B (CHMP4B....)
  • CHN1 (CHN1....)
  • CHRDL1 (CHRDL1....)
  • CHRFAM7A (CHRFAM7A....)
  • CHRM1 (CHRM1....)
  • CHRM2 (CHRM2....)
  • CHRM3 (CHRM3....)
  • CHRNA1 (CHRNA1....)
  • CHRNA2 (CHRNA2....)
  • CHRNA3 (CHRNA3....)
  • CHRNA4 (CHRNA4....)
  • CHRNA5 (CHRNA5....)
  • CHRNA7 (CHRNA7....)
  • CHRNA9 (CHRNA9....)
  • CHRNB1 (CHRNB1....)
  • CHRNB2 (CHRNB2....)
  • CHRNB4 (CHRNB4....)
  • CHRND (CHRND....)
  • CHRNE (CHRNE....)
  • CHRNG (CHRNG....)
  • CHST14 (CHST14....)
  • CHST3 (CHST3....)
  • CHST6 (CHST6....)
  • CHST8 (CHST8....)
  • CHSY1 (CHSY1....)
  • CHUK (CHUK....)
  • CIB2 (CIB2....)
  • CIC (CIC....)
  • CIDEA (CIDEA....)
  • CIDEC (CIDEC....)
  • CIITA (CIITA....)
  • CILP (CILP....)
  • CIRH1A (CIRH1A....)
  • CISD2 (CISD2....)
  • CISH (CISH....)
  • CITED2 (CITED2....)
  • CKM (CKM....)
  • CLCA1 (CLCA1....)
  • CLCA2 (CLCA2....)
  • CLCF1 (CLCF1....)
  • CLCN1 (CLCN1....)
  • CLCN2 (CLCN2....)
  • CLCN5 (CLCN5....)
  • CLCN7 (CLCN7....)
  • CLCNKA (CLCNKA....)
  • CLCNKB (CLCNKB....)
  • CLDN1 (CLDN1....)
  • CLDN14 (CLDN14....)
  • CLDN16 (CLDN16....)
  • CLDN19 (CLDN19....)
  • CLEC11A (CLEC11A....)
  • CLEC2D (CLEC2D....)
  • CLEC4M (CLEC4M....)
  • CLEC7A (CLEC7A....)
  • CLIC2 (CLIC2....)
  • CLK2 (CLK2....)
  • CLMP (CLMP....)
  • CLN3 (CLN3....)
  • CLN5 (CLN5....)
  • CLN6 (CLN6....)
  • CLN8 (CLN8....)
  • CLNK (CLNK....)
  • CLOCK (CLOCK....)
  • CLPS (CLPS....)
  • CLPTM1 (CLPTM1....)
  • CLRN1 (CLRN1....)
  • CLSTN2 (CLSTN2....)
  • CLTCL1 (CLTCL1....)
  • CLU (CLU....)
  • CLUL1 (CLUL1....)
  • CLYBL (CLYBL....)
  • CMA1 (CMA1....)
  • CMPK1 (CMPK1....)
  • CNBP (CNBP....)
  • CNDP1 (CNDP1....)
  • CNGA1 (CNGA1....)
  • CNGA3 (CNGA3....)
  • CNGB1 (CNGB1....)
  • CNGB3 (CNGB3....)
  • CNKSR1 (CNKSR1....)
  • CNKSR2 (CNKSR2....)
  • CNNM2 (CNNM2....)
  • CNNM4 (CNNM4....)
  • CNOT3 (CNOT3....)
  • CNOT4 (CNOT4....)
  • CNPY3 (CNPY3....)
  • CNR1 (CNR1....)
  • CNR2 (CNR2....)
  • CNTF (CNTF....)
  • CNTN1 (CNTN1....)
  • CNTN4 (CNTN4....)
  • CNTNAP2 (CNTNAP2....)
  • CNTNAP4 (CNTNAP4....)
  • CNTNAP5 (CNTNAP5....)
  • COA5 (COA5....)
  • COCH (COCH....)
  • COG1 (COG1....)
  • COG4 (COG4....)
  • COG5 (COG5....)
  • COG6 (COG6....)
  • COG7 (COG7....)
  • COG8 (COG8....)
  • COL10A1 (COL10A1....)
  • COL11A1 (COL11A1....)
  • COL11A2 (COL11A2....)
  • COL12A1 (COL12A1....)
  • COL17A1 (COL17A1....)
  • COL18A1 (COL18A1....)
  • COL1A1 (COL1A1....)
  • COL1A2 (COL1A2....)
  • COL25A1 (COL25A1....)
  • COL2A1 (COL2A1....)
  • COL3A1 (COL3A1....)
  • COL4A1 (COL4A1....)
  • COL4A2 (COL4A2....)
  • COL4A3 (COL4A3....)
  • COL4A4 (COL4A4....)
  • COL4A5 (COL4A5....)
  • COL4A6 (COL4A6....)
  • COL5A1 (COL5A1....)
  • COL5A2 (COL5A2....)
  • COL6A1 (COL6A1....)
  • COL6A2 (COL6A2....)
  • COL6A3 (COL6A3....)
  • COL6A5 (COL6A5....)
  • COL7A1 (COL7A1....)
  • COL8A2 (COL8A2....)
  • COL9A1 (COL9A1....)
  • COL9A2 (COL9A2....)
  • COL9A3 (COL9A3....)
  • COLEC11 (COLEC11....)
  • COLQ (COLQ....)
  • COMMD1 (COMMD1....)
  • COMP (COMP....)
  • COMT (COMT....)
  • COQ2 (COQ2....)
  • COQ4 (COQ4....)
  • COQ5 (COQ5....)
  • COQ6 (COQ6....)
  • COQ9 (COQ9....)
  • CORIN (CORIN....)
  • CORO1A (CORO1A....)
  • COX10 (COX10....)
  • COX14 (COX14....)
  • COX15 (COX15....)
  • COX4I1 (COX4I1....)
  • COX4I2 (COX4I2....)
  • COX6B1 (COX6B1....)
  • COX7A1 (COX7A1....)
  • COX7A2 (COX7A2....)
  • CP (CP....)
  • CPA4 (CPA4....)
  • CPA6 (CPA6....)
  • CPB2 (CPB2....)
  • CPE (CPE....)
  • CPLX2 (CPLX2....)
  • CPN1 (CPN1....)
  • CPOX (CPOX....)
  • CPS1 (CPS1....)
  • CPT1A (CPT1A....)
  • CPT1B (CPT1B....)
  • CPT2 (CPT2....)
  • CPZ (CPZ....)
  • CR1 (CR1....)
  • CR2 (CR2....)
  • CRADD (CRADD....)
  • CRB1 (CRB1....)
  • CRBN (CRBN....)
  • CREB1 (CREB1....)
  • CREB3L3 (CREB3L3....)
  • CREBBP (CREBBP....)
  • CRELD1 (CRELD1....)
  • CRH (CRH....)
  • CRHR1 (CRHR1....)
  • CRISP2 (CRISP2....)
  • CRK (CRK....)
  • CRKL (CRKL....)
  • CRLF1 (CRLF1....)
  • CRP (CRP....)
  • CRTAP (CRTAP....)
  • CRX (CRX....)
  • CRYAA (CRYAA....)
  • CRYAB (CRYAB....)
  • CRYBA1 (CRYBA1....)
  • CRYBA4 (CRYBA4....)
  • CRYBB1 (CRYBB1....)
  • CRYBB2 (CRYBB2....)
  • CRYBB3 (CRYBB3....)
  • CRYGB (CRYGB....)
  • CRYGC (CRYGC....)
  • CRYGD (CRYGD....)
  • CRYGS (CRYGS....)
  • CRYM (CRYM....)
  • CSAG1 (CSAG1....)
  • CSDE1 (CSDE1....)
  • CSF1 (CSF1....)
  • CSF1R (CSF1R....)
  • CSF2 (CSF2....)
  • CSF2RA (CSF2RA....)
  • CSF2RB (CSF2RB....)
  • CSF3R (CSF3R....)
  • CSGALNACT1 (CSGALNACT1....)
  • CSH1 (CSH1....)
  • CSMD1 (CSMD1....)
  • CSMD3 (CSMD3....)
  • CSNK1A1L (CSNK1A1L....)
  • CSNK1D (CSNK1D....)
  • CSNK1E (CSNK1E....)
  • CSNK2A2 (CSNK2A2....)
  • CSNK2A3 (CSNK2A3....)
  • CSRP3 (CSRP3....)
  • CST3 (CST3....)
  • CSTA (CSTA....)
  • CSTB (CSTB....)
  • CSTF2T (CSTF2T....)
  • CTC1 (CTC1....)
  • CTDP1 (CTDP1....)
  • CTF1 (CTF1....)
  • CTGF (CTGF....)
  • CTH (CTH....)
  • CTHRC1 (CTHRC1....)
  • CTLA4 (CTLA4....)
  • CTNNA3 (CTNNA3....)
  • CTNNB1 (CTNNB1....)
  • CTNND1 (CTNND1....)
  • CTNS (CTNS....)
  • CTRC (CTRC....)
  • CTSA (CTSA....)
  • CTSB (CTSB....)
  • CTSC (CTSC....)
  • CTSD (CTSD....)
  • CTSG (CTSG....)
  • CTSK (CTSK....)
  • CTSZ (CTSZ....)
  • CTTNBP2 (CTTNBP2....)
  • CUBN (CUBN....)
  • CUL3 (CUL3....)
  • CUL4B (CUL4B....)
  • CUL5 (CUL5....)
  • CUL7 (CUL7....)
  • CX3CR1 (CX3CR1....)
  • CXCL10 (CXCL10....)
  • CXCL11 (CXCL11....)
  • CXCL12 (CXCL12....)
  • CXCL16 (CXCL16....)
  • CXCL5 (CXCL5....)
  • CXCR1 (CXCR1....)
  • CXCR3 (CXCR3....)
  • CXCR4 (CXCR4....)
  • CYB5A (CYB5A....)
  • CYB5R3 (CYB5R3....)
  • CYBA (CYBA....)
  • CYBB (CYBB....)
  • CYBRD1 (CYBRD1....)
  • CYCS (CYCS....)
  • CYLD (CYLD....)
  • CYP11A1 (CYP11A1....)
  • CYP11B1 (CYP11B1....)
  • CYP11B2 (CYP11B2....)
  • CYP17A1 (CYP17A1....)
  • CYP19A1 (CYP19A1....)
  • CYP1A1 (CYP1A1....)
  • CYP1A2 (CYP1A2....)
  • CYP1B1 (CYP1B1....)
  • CYP21A2 (CYP21A2....)
  • CYP24A1 (CYP24A1....)
  • CYP26A1 (CYP26A1....)
  • CYP26B1 (CYP26B1....)
  • CYP27A1 (CYP27A1....)
  • CYP27B1 (CYP27B1....)
  • CYP2A13 (CYP2A13....)
  • CYP2A6 (CYP2A6....)
  • CYP2B6 (CYP2B6....)
  • CYP2C18 (CYP2C18....)
  • CYP2C19 (CYP2C19....)
  • CYP2C8 (CYP2C8....)
  • CYP2C9 (CYP2C9....)
  • CYP2D6 (CYP2D6....)
  • CYP2D7P (CYP2D7P....)
  • CYP2E1 (CYP2E1....)
  • CYP2F1 (CYP2F1....)
  • CYP2J2 (CYP2J2....)
  • CYP2R1 (CYP2R1....)
  • CYP2W1 (CYP2W1....)
  • CYP3A4 (CYP3A4....)
  • CYP3A43 (CYP3A43....)
  • CYP3A5 (CYP3A5....)
  • CYP3A7 (CYP3A7....)
  • CYP46A1 (CYP46A1....)
  • CYP4A11 (CYP4A11....)
  • CYP4A22 (CYP4A22....)
  • CYP4B1 (CYP4B1....)
  • CYP4F12 (CYP4F12....)
  • CYP4F2 (CYP4F2....)
  • CYP4F22 (CYP4F22....)
  • CYP4F3 (CYP4F3....)
  • CYP4V2 (CYP4V2....)
  • CYP7A1 (CYP7A1....)
  • CYP7B1 (CYP7B1....)
  • CYSLTR1 (CYSLTR1....)
  • CYSLTR2 (CYSLTR2....)
  • Cinca syndrome (ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP1....)
  • CD8 deficiency, familial (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • CHARGE syndrome (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Combined immunodeficiency (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Combined immunodeficiency, X-linked, moderate (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • C1q deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • C1s deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • C2 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • C3 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • C4B deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • C5 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • C6 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • C7 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • C8 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • C9 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Complement component 4, partial deficiency of (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Complement deficiencies (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Complement factor B deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Complement factor D deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Complement factor H deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Complement factor I deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Chronic granulomatous disease (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Cohen syndrome (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Congenital disorder of glycosylation, type IIc (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Congenital defects of phagocyte number and function (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Candidiasis, familial, 2, autosomal recessive (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Candidiasis, familial, 5, autosomal recessive (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Candidiasis, familial, 6, autosomal dominant (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Candidiasis, familial, 8 (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Chronic infections, due to MBL deficiency (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Chediak-Higashi syndrome (ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA....)
  • Cystic fibrosis (CFTR....)
  • Campomelic dysplasia with autosomal sex reversal (AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5....)
  • Cortisone reductase deficiency 1 (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)
  • Cortisone reductase deficiency 2 (CYP11B1, H6PD, HSD11B1, INSR, KISS1R, LHCGR, MKRN3....)