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Disorder Names

Fabry disease(AGL, ALDOB, ATP7B, COX10, COX6B1, CTNS, EYA1, FAH, FASTKD2, G6PC, GALT, GLA, HPRT1, OCRL, PFKM, PRPS1, PYGM, REN, SARS2, SCO1, SIX1, SLC22A12, SLC37A4, TACO1, UMO)

Fabry disease(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Familial atrial fibrillation(ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DES, DSC2, DSG2, DSP, EMD, GATA4, GJA5, GLA, GPD1L, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NKX2-5, NPPA, NUP155, PKP2, PRKAG2, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR)

Familial juvenile hyperuricemic nephropathy(APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, INVS, IQCB1, ITGA3, LAMB2, LMX1B, NEK8, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, PDSS1, PDSS2, PLCE1, PTPRO, REN, RPGRIP1L, SCARB2, SDCCAG8, SLC26A1, SLC34A1, SLC36A2, SLC6A19, SLC6A20, SLC9A3R1, SMARCAL1, TMEM67, TRAF3IP1, TTC21B,UMOD, WDR19, WT1, XPNPEP3)

Familial partial lipodystrophy(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Familial transient neonatal hyperbilirubinemia(ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR7, EBP, FGFR2, HSD3B7, LBR, MSMO1, MVK, NR1H4, NSDHL, POR, SC5D, SLC10A2, STS, TJP2, UGT1A1)

Fanconi renotubular syndrome(HNF4A, SLC2A2, SLC34A1, SLC5A1, SLC5A2)

Fanconi syndrome(ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ARSA, CLCN5, ETFA, ETFB, ETFDH, OCRL, PCK1, PCK2, PSAP)

Fanconi-Bickel Syndrome(HNF4A, SLC2A2, SLC34A1, SLC5A1, SLC5A2)

Farber lipogranulomatosis(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Fatty acid and peroxisomal disorders(ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37)

Fazio-Londe disease(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)

FG syndrome(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)

Fish-eye disease(ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CETP, CIDEC, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, DECR1, DGAT1, EPHX2, GPD1, GPIHBP1, HSD3B2, JAG1, LCAT, LDLR, LDLRAP1, LIPC, LIPE, LIPI, LMF1, LMNA, LPL, MTTP, NOTCH2, PANK2, PCSK9, PLIN1, PPARG, PSMB8, PTRF, SAR1B, SMPD1, SPTLC1, SPTLC2, USF1)

Focal segmental glomerulosclerosis(ACTN4, APOL1, CD2AP, COQ6, INF2*, MYO1E, PAX2, PLCE1, TRPC6)

Folate malabsorption(ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, MECP2, MTHFR, PAH, PCBD1, PHGDH, PNPO, PSPH, PTS, QDPR, SLC46A1, SPR, TH)

Fragile X mental retardation syndrome(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)

Fragile X-associated tremor/ataxia syndrome(ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, C10orf2, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CC2D2A, CCDC88C, CISD2, CLCN2, CLN5, CLN6, CLN8, COQ2, COQ4, COQ6, COQ9, COX10, COX6B1, CSTB, CTSD, CYP27A1, DARS2, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, FASTKD2, FGF14, FLVCR1, FMR1, FXN, GJB1, GOSR2, GPR56, GRM1, GRN, IFRD1, IFT140, ITM2B, ITPR1, KCNA1, KCND3, KCNJ10, KCTD7, KIAA0226, LMNB2, MARS2, MECP2, MFSD8, MME, MRE11A, MTPAP, NBN, NDUFS7, NHLRC1, NKX2-1, NPC1, NPC2, NUBPL, OPA1, PAX6, PC, PDHA1, PDSS1, PDSS2, PDYN, PEX10, PEX16, PEX2, PEX7, PHYH, PIK3R5, PLEKHG4, PMM2, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPT1, PRF1, PRICKLE1, PRKCG, PRPS1, PRX, PSEN1, RNF170, RPGRIP1L, SACS, SCARB2, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SPTBN2, SQSTM1, SRD5A3, SYNE1, SYT14, TACO1, TDP1, TGM6, TMEM67, TPP1, TRPC3, TTBK2, TTC19, TTPA, VLDLR, WDR81, WFS1, WWOX, ZNF592)

Fructose-1,6-bisphosphatase deficiency(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)

Fructosuria(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)

Fucosidosis(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Fukuyama congenital muscular dystrophy(ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, COL12A1, COL6A1, COL6A2, COL6A3, COQ2, DAG1, DES, DMD, DNAJB2, DNAJB6, DPM1, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GARS, GJB1, HSPB8, IGHMBP2, ISPD, ITGA7, LAMA2, LAMP2, LARGE, LMNA, MPZ, MYH7, MYOT, PABPN1, PHKA1, PLEC, PLEKHG5, POMGNT1, POMGNT2, POMT1, POMT2, PSMB8, PYGM, REEP1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIGMAR1, SLC16A2, SLC52A3, SLC5A7, SNCA, SYNE1, SYNE2, TCAP, TMEM43, TRIM32, TRPV4, TTN, UBA1, VAPB, VRK1)

Fumarase deficiency(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Fallopian tube Cancer(BRCA1, BRCA2, CHEK2, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, STK11, TP53)

Familial adenomatous polyposis (FAP)(APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53)

Familial spontaneous pneumothorax(FLCN)

Fanconi anemia(BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4)

Fetal akinesia deformation sequence/Pena-Shokeir syndrome(ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1, EMG1, ERBB3, FBLN1, FBN2, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GDF5, GLE1, GLI3, GSC, HOXA11, IL11RA, KRAS, LRP4, MASP1, MSX2, MUSK, MYBPC1, MYH3, MYH8, NOG, PIEZO2, PIP5K1C, PITX1, POR, PRMT7, PTPN11, RAB23, RAPSN, RECQL4, RIPK4, RYR1, SALL4, TBX22, TBX4, TNNI2, TNNT3, TPM2, UBA1, VIPAS39, VPS33B, ZIC1)

Fibrochondrogenesis(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Fibrodysplasia ossificans progressiva(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Fibular hypoplasia and complex brachydactyly(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Focal dermal hypoplasia(CDH3, DLX5, FBXW4, FGFR1, PORCN, TP63, WNT10B, WNT7A)

Frank-ter Haar syndrome(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Freeman-Sheldon syndrome(ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1, EMG1, ERBB3, FBLN1, FBN2, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GDF5, GLE1, GLI3, GSC, HOXA11, IL11RA, KRAS, LRP4, MASP1, MSX2, MUSK, MYBPC1, MYH3, MYH8, NOG, PIEZO2, PIP5K1C, PITX1, POR, PRMT7, PTPN11, RAB23, RAPSN, RECQL4, RIPK4, RYR1, SALL4, TBX22, TBX4, TNNI2, TNNT3, TPM2, UBA1, VIPAS39, VPS33B, ZIC1)

Frontonasal dysplasia(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)

Fuhrmann 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)

Fumarase deficiency/Hereditary leiomyomatosis(FH)

Familial cylindromatosis(CYLD)

F10(F10)

F11(F11)

F12(F12)

F13A1(F13A1)

F13B(F13B)

F2(F2)

F2R(F2R)

F2RL1(F2RL1)

F3(F3)

F5(F5)

F7(F7)

F8(F8)

F9(F9)

FA2H(FA2H)

FAAH(FAAH)

FAAH2(FAAH2)

FABP1(FABP1)

FABP2(FABP2)

FABP3(FABP3)

FABP4(FABP4)

FABP6(FABP6)

FABP7(FABP7)

FADD(FADD)

FADS2(FADS2)

FAH(FAH)

FAM120A(FAM120A)

FAM126A(FAM126A)

FAM134B(FAM134B)

FAM161A(FAM161A)

FAM205A(FAM205A)

FAM20A(FAM20A)

FAM20C(FAM20C)

FAM58A(FAM58A)

FAM83H(FAM83H)

FAM8A1(FAM8A1)

FAM91A1(FAM91A1)

FANCA(FANCA)

FANCB(FANCB)

FANCC(FANCC)

FANCD2(FANCD2)

FANCE(FANCE)

FANCF(FANCF)

FANCG(FANCG)

FANCI(FANCI)

FANCL(FANCL)

FANCM(FANCM)

FARS2(FARS2)

FAS(FAS)

FASLG(FASLG)

FASN(FASN)

FASTKD2(FASTKD2)

FBLIM1(FBLIM1)

FBLN1(FBLN1)

FBLN5(FBLN5)

FBN1(FBN1)

FBN2(FBN2)

FBN3(FBN3)

FBP1(FBP1)

FBXL6(FBXL6)

FBXO10(FBXO10)

FBXO18(FBXO18)

FBXO7(FBXO7)

FBXW11(FBXW11)

FBXW4(FBXW4)

FBXW7(FBXW7)

FCAR(FCAR)

FCER1A(FCER1A)

FCER2(FCER2)

FCGR1A(FCGR1A)

FCGR2A(FCGR2A)

FCGR2B(FCGR2B)

FCGR3A(FCGR3A)

FCGR3B(FCGR3B)

FCGRT(FCGRT)

FCN2(FCN2)

FCN3(FCN3)

FCRL3(FCRL3)

FDFT1(FDFT1)

FECH(FECH)

FEM1A(FEM1A)

FEN1(FEN1)

FERMT1(FERMT1)

FERMT3(FERMT3)

FEV(FEV)

FEZF2(FEZF2)

FFAR1(FFAR1)

FFAR4(FFAR4)

FGA(FGA)

FGB(FGB)

FGD1(FGD1)

FGD3(FGD3)

FGD4(FGD4)

FGF1(FGF1)

FGF10(FGF10)

FGF14(FGF14)

FGF2(FGF2)

FGF20(FGF20)

FGF23(FGF23)

FGF3(FGF3)

FGF8(FGF8)

FGF9(FGF9)

FGFBP1(FGFBP1)

FGFR1(FGFR1)

FGFR2(FGFR2)

FGFR3(FGFR3)

FGFR4(FGFR4)

FGFRL1(FGFRL1)

FGG(FGG)

FH(FH)

FHL1(FHL1)

FHL2(FHL2)

FIG4(FIG4)

FIGLA(FIGLA)

FIP1L1(FIP1L1)

FKBP10(FKBP10)

FKBP14(FKBP14)

FKBP5(FKBP5)

FKBP6(FKBP6)

FKBPL(FKBPL)

FKRP(FKRP)

FKTN(FKTN)

FLCN(FLCN)

FLG(FLG)

FLNA(FLNA)

FLNB(FLNB)

FLNC(FLNC)

FLT1(FLT1)

FLT3(FLT3)

FLT4(FLT4)

FLVCR1(FLVCR1)

FLVCR2(FLVCR2)

FMN1(FMN1)

FMN2(FMN2)

FMO1(FMO1)

FMO2(FMO2)

FMO3(FMO3)

FMO4(FMO4)

FMO5(FMO5)

FMR1(FMR1)

FN1(FN1)

FN3K(FN3K)

FOLH1(FOLH1)

FOLR1(FOLR1)

FOXA1(FOXA1)

FOXA2(FOXA2)

FOXA3(FOXA3)

FOXC1(FOXC1)

FOXC2(FOXC2)

FOXD3(FOXD3)

FOXD4(FOXD4)

FOXE1(FOXE1)

FOXE3(FOXE3)

FOXF1(FOXF1)

FOXF2(FOXF2)

FOXG1(FOXG1)

FOXH1(FOXH1)

FOXI1(FOXI1)

FOXL2(FOXL2)

FOXN1(FOXN1)

FOXP1(FOXP1)

FOXP2(FOXP2)

FOXP3(FOXP3)

FOXRED1(FOXRED1)

FPGS(FPGS)

FPR1(FPR1)

FPR2(FPR2)

FRA10AC1(FRA10AC1)

FRAS1(FRAS1)

FREM1(FREM1)

FREM2(FREM2)

FREM3(FREM3)

FRG1(FRG1)

FRK(FRK)

FRMD6(FRMD6)

FRMD7(FRMD7)

FRMPD4(FRMPD4)

FRY(FRY)

FRZB(FRZB)

FSCB(FSCB)

FSCN2(FSCN2)

FSHB(FSHB)

FSHR(FSHR)

FTCD(FTCD)

FTH1(FTH1)

FTHL17(FTHL17)

FTL(FTL)

FTO(FTO)

FTSJ1(FTSJ1)

FUCA1(FUCA1)

FURIN(FURIN)

FUS(FUS)

FUT1(FUT1)

FUT2(FUT2)

FUT3(FUT3)

FUT6(FUT6)

FUT7(FUT7)

FUT8(FUT8)

FUZ(FUZ)

FXN(FXN)

FXYD2(FXYD2)

FXYD6(FXYD6)

FYCO1(FYCO1)

FZD1(FZD1)

FZD3(FZD3)

FZD4(FZD4)

FZD6(FZD6)

FZD9(FZD9)

Familial cold autoinflammatory syndrome 2(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Familial Mediterranean fever(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Folate malabsorption, hereditary(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)

Familial male-limited precocious puberty()

Fraser syndrome()