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Disorder Names

N-acetylglutamate synthase 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)

Naegeli-Franceschetti-Jadassohn syndrome(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)

Naevi and other abnormalities(ARHGAP31, DOCK6, IDS, KRT4, LEMD3, NOTCH1, TEK)

Nail-patella syndrome(AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, COL7A1, CTC1, CTSC, DKC1, DLX3, DOCK6, DSP, DST, EDA, EDAR, ERCC2, ERCC3, EVC, EVC2, EXT1, EZH2, FERMT1, FIG4, FOXN1, FZD6, GJA1, GJB2, GJB6, GLI3, GTF2H5, IFT122, IFT43, IKBKG, IRF6, ITGB4, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT81, KRT83, KRT85, KRT86, LAMA3, LAMB3, LAMC2, LMX1B, LRP4, MBTPS2, MSX1, NHP2, NLRP1, NOP10, NOTCH1, PIGO, PKP1, PLCD1, PLEC, PORCN, PVRL1, RECQL4, RIPK4, ROR2, RSPO4, SETBP1, SMARCA2, SMARCA4, SMARCB1, SOST, STAT1, TBC1D24, TBX3, TERC, TERT, TINF2, TP63, TRPS1, TRPV3, USB1, WDR19, WNT10A, WRAP53)

Nails and nail growth defects(AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, COL7A1, CTC1, CTSC, DKC1, DLX3, DOCK6, DSP, DST, EDA, EDAR, ERCC2, ERCC3, EVC, EVC2, EXT1, EZH2, FERMT1, FIG4, FOXN1, FZD6, GJA1, GJB2, GJB6, GLI3, GTF2H5, IFT122, IFT43, IKBKG, IRF6, ITGB4, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT81, KRT83, KRT85, KRT86, LAMA3, LAMB3, LAMC2, LMX1B, LRP4, MBTPS2, MSX1, NHP2, NLRP1, NOP10, NOTCH1, PIGO, PKP1, PLCD1, PLEC, PORCN, PVRL1, RECQL4, RIPK4, ROR2, RSPO4, SETBP1, SMARCA2, SMARCA4, SMARCB1, SOST, STAT1, TBC1D24, TBX3, TERC, TERT, TINF2, TP63, TRPS1, TRPV3, USB1, WDR19, WNT10A, WRAP53)

Naxos disease(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)

Nemaline 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)

Nephrogenic diabetes insipidus(AQP2, AVPR2)

Nephropathies(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)

Nephropathy with pretibial epidermolysis bullosa and deafness(AQP5, ATP2A2, ATP2C1, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSC3, DSG1, DSP, DST, FERMT1, IKBKG, ITGA3, ITGA6, ITGB4, JUP, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SLC39A4, TGM5)

Nephrotic syndrome(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)

Nestor-Guillermo progeria syndrome(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

Netherton syndrome(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)

Neu-Laxova syndrome(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)

Neu-Laxova syndrome(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)

Neurodegeneration due to cerebral folate transport deficiency(ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, MECP2, MTHFR, PAH, PCBD1, PHGDH, PNPO, PSPH, PTS, QDPR, SLC46A1, SPR, TH)

Neurodegeneration with brain iron accumulation(ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BCS1L, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, COL6A3, COX10, COX15, CP, CTSD, D2HGDH, DCAF17, DNAJC5, DRD2, DRD5, FA2H, FBXO7, FOXRED1, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GRN, HPRT1, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MTFMT, MUT, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NPC1, NPC2, PAH, PANK2, PARK2, PDGFB, PDHX, PINK1, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKRA, PRRT2, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCP2, SDHA, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A19, SLC6A3, SLC6A8, SNCA, SPR, SQSTM1, SUCLA2, SURF1, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, VPS13A, WDR45, XK)

Neurodegenerative syndrome due to cerebral folate transport 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)

Neurofibromatosis(AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, PTPN11, RAF1, RASA1, SDHB, SEC23B, SHOC2, SOS1, SPRED1, TSC1, TSC2)

Neuronal ceroid lipofuscinosis(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)

Neuronal ceroid lipofuscinosis(AARS, ACTB, ACY1, ADGRV1, ADRA2B, ADSL, AFG3L2, AGTR2, AKT3, ALDH7A1, ALG13, AMT, AP1S2, AP3B2, ARFGEF2, ARHGEF9, ASAH1, ASNS, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATRX, BOLA3, BRAT1, BRWD3, CACNA1A, CACNA1D, CACNA1G, CACNA1H, CACNA2D1, CACNB4, CASK, CASR, CBL, CDKL5, CHD2, CHRNA7, CHRNB2, CLCN2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, COL4A1, COL6A2, COQ4, CPA6, CPT2, CRH, CSTB, CTSD, D2HGDH, DCX, DEAF1, DIAPH1, DNAJC5, DNM1, DNM1L, DOLK, DYNC1H1, DYRK1A, EFHC1, EHMT1, EPM2A, ETHE1, EXT2, FARS2, FIG4, FLNA, FOLR1, GABRA1, GABRA6, GABRB3, GABRD, GABRG2, GAMT, GATM, GCK, GCSH, GLDC, GLYCTK, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HACE1, HCN1, HDAC8, HNRNPU, HSD17B10, IDH2, IER3IP1, INS, IQSEC2, ITPA, JRK, KANSL1, KCNA1, KCND2, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCTD7, KIAA2022, L2HGDH, LGI1, LIAS, LMNB2, MAGI2, MANBA, MAPK10, MBD5, MECP2, MED17, MEF2C, MFF, MFSD8, MOCS1, MTHFR, NEDD4L, NEU1, NHLRC1, NIPBL, NR2F1, NRXN1, PCDH19, PHF6, PHGDH, PIGA, PIGN, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPP1R3C, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSEN1, PTEN, RAD21, RANBP2, RBFOX1, RELN, ROGDI, SACS, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN8A, SCN9A, SCO1, SERPINI1, SEZ6, SLC19A3, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SMC3, SMS, SNIP1, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STRADA, STXBP1, SYNGAP1, TBC1D24, TBCE, TBL1XR1, TCF4, TK2, TPP1, TSC1, TSC2, TWNK, UBE2A, UBE3A, USP9X, WDR45, WDR62, WWOX, ZEB2)

Neuronal ceroid lipofuscinosis(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)

Neuropathy(AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10orf2, CCT5, CD59, CSGALNACT1, CTDP1, DCTN1, DFNB59, DHH, DIAPH3, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GBA, GDAP1, GJB1, GJB3, GLA, GSN, HADHA, HADHB, HARS, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MFN2, MME, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, OTOF, PHYH, PLEKHG5, PMP22, PNPLA6, POLG, PRPS1, PRX, RAB7A, REEP1, RPIA, SACS, SBF2, SCN10A, SCN9A, SCP2, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC5A7, SNAP29, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TMEM126A, TRPV4, TTR, TYMP, VCP, VRK1, WNK1, YARS)

Nicolaides-Baraitser syndrome(ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1, DSG4, DSP, EDA, EDAR, EDARADD, EDNRA, ERCC2, ERCC3, FOXN1, GJA1, GJB2, GJB6, GTF2H5, HR, JUP, KRAS, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, MAP2K1, MAP2K2, MBTPS2, MPLKIP, OFD1, PKP1, PVRL1, PVRL4, RBM28, RECQL4, RIN2, RMRP, RNF113A, RPL21, SHOC2, SKIV2L, SLC39A4, SMARCA2, SPINK5, ST14, TRPS1, TTC37, TWIST2, VDR, WNT10A)

Niemann-Pick 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)

Nijmegen breakage syndrome(ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1, ARID1A, ARID1B, ASNS, ASPM, ATP1A3, ATP6V0A2, ATR, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRAT1, BUB1B, CASK, CDC6, CDK5RAP2, CDKL5, CDT1, CENPJ, CEP135, CEP152, CEP63, COG7, CTNNB1, CTSD, CYB5R3, DEAF1, DHCR24, DHCR7, DIAPH1, DLD, DNM1L, DOCK6, DPM1, DPP6, DPYD, DYNC1H1, DYRK1A, EFTUD2, EMG1, EP300, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EXOSC3, FKTN, FREM1, GLI2, GLYCTK, GNPAT, IER3IP1, IFIH1, IGF1R, IQSEC2, KARS, KAT6B, KDM5C, KIAA1279, KIF11, KMT2D, KNL1, LIG4, LINS1, LMBRD1, MBTPS2, MCM4, MCPH1, MECP2, MED17, MFSD2A, MID1, MMACHC, MMADHC, MOCS2, MRE11, MRPS22, MSMO1, MTHFR, MTR, MTRR, NBN, NDE1, NHEJ1, NIPBL, NR2E1, NSDHL, NSUN2, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PAH, PAK3, PAX6, PCDH15, PCNT, PDHA1, PDX1, PHF6, PHGDH, PIEZO2, PNKP, PNPO, POMGNT1, POMT1, POMT2, PQBP1, PTCH1, PTPRT, PUS1, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RNASEH2A, RNASEH2B, RNASEH2C, RNU4ATAC, RPL10, RPS6KA3, SAMHD1, SEPSECS, SHH, SIX3, SLC16A2, SLC25A19, SLC2A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNX3, SPR, STIL, SYNGAP1, TAF2, TCF4, TMEM165, TRAPPC9, TREX1, TSEN54, TUBA1A, TUBB2B, TUBB3, TUBGCP4, TUBGCP6, UBE3A, VPS13B, VRK1, WDR62, WHSC1, WWOX, XPA, XRCC4, ZBTB16, ZEB2, ZNF335)

Noonan syndrome(AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, PTPN11, RAF1, RASA1, SDHB, SEC23B, SHOC2, SOS1, SPRED1, TSC1, TSC2)

Nager 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)

Nail-patella 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)

Nakajo-Nishimura syndrome(ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, IL6, KIF22, LPIN2, MATN3, MMP2, NLRP3, PAPSS2, PRG4, PSMB8, SLC26A2, SLCO2A1, SMAD3, TRPV4, WISP3)

Nasu-Hakola disease(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)

Nervous system cancer(ALK, APC, MEN1, MLH1, MSH2, MSH6, NF2, PMS2, PTEN, SUFU, TP53, TSC1, TSC2, VHL)

Nestor-Guillermo progeria syndrome(ANTXR2, BANF1, COL3A1, CTSC, CTSK, DDX58, FLNA, HPGD, IFIH1, IL1RN, LMNA, MAFB, MMP14, MMP2, NOTCH2, RUNX2, SQSTM1, TNFRSF11A, WNK1, ZMPSTE24)

Neurofibromatosis(BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, SHOC2, SOS1, SPRED1)

Neurofibromatosis(NF1, NF2)

Noonan syndrome(BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, SHOC2, SOS1, SPRED1)

Noonan syndrome with multiple lentigines(BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, SHOC2, SOS1, SPRED1)

NDUFA10(NDUFA10)

NDUFA11(NDUFA11)

NDUFA12(NDUFA12)

NDUFA13(NDUFA13)

NDUFAF1(NDUFAF1)

NDUFAF2(NDUFAF2)

NDUFAF3(NDUFAF3)

NDUFAF4(NDUFAF4)

NDUFAF5(NDUFAF5)

NDUFAF6(NDUFAF6)

NDUFAF7(NDUFAF7)

NEUROD1(NEUROD1)

NEUROG3(NEUROG3)

NFKBIL1(NFKBIL1)

NIPSNAP1(NIPSNAP1)

NIPSNAP3A(NIPSNAP3A)

Netherton syndrome(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)

Neutropenia, severe congenital, X-linked(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)

Nijmegen breakage syndrome(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)

Nephropathy due to CFHR5 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)

Neutropenia, cyclic(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)

Neutropenia, severe congenital 1, autosomal dominant(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)

Neutropenia, severe congenital 2, autosomal dominant(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)

Neutropenia, severe congenital 3, autosomal recessive(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)

Neutropenia, severe congenital 4, autosomal recessive(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)

Neutropenia, severe congenital 7, autosomal recessive(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)

Neutrophil immunodeficiency syndrome(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)

Natural killer cell and glucocorticoid deficiency with DNA repair defect(CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, STAT1, TMC6, TMC8, TRAF3IP2)

Nephronophthisis(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)