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Disorder Names

  • N-acetylglutamate synthase deficiency (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Naegeli-Franceschetti-Jadassohn syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Naevi and other abnormalities (ARHGAP31, DOCK6, IDS, KRT4, LEMD3, NOTCH1, TEK....)
  • Nail-patella syndrome (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Nails and nail growth defects (AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, CO....)
  • Naxos disease (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Nemaline myopathy (ACADS, ACTA1, AMPD1, ANO5, ATP2A1, BAG3, BIN1, CAV3, CFL2, CHKB, CNTN1, COL12A1,....)
  • Nephrogenic diabetes insipidus (AQP2, AVPR2....)
  • Nephropathies (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Nephropathy with pretibial epidermolysis bullosa and deafness (AQP5, ATP2A2, ATP2C1, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSC3, DSG1, DSP, DST, ....)
  • Nephrotic syndrome (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)
  • Nestor-Guillermo progeria syndrome (ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A....)
  • Netherton syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Neu-Laxova syndrome (ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, ARSE, ATP2A2, BRAF, CARD14....)
  • Neu-Laxova syndrome (AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, AL....)
  • Neurodegeneration due to cerebral folate transport deficiency (ABAT, ALDH5A1, ALDH7A1, ATP7A, DBH, DDC, DHFR, FOLR1, GCH1, GLRA1, GLUL, MAOA, M....)
  • Neurodegeneration with brain iron accumulation (ACTB, ADCY5, AFG3L2, ARFGEF2, ARSA, ATM, ATP13A2, ATP1A3, ATP7B, AUH, BCAP31, BC....)
  • Neurodegenerative syndrome due to cerebral folate transport deficiency (ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS,....)
  • Neurofibromatosis (AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, ....)
  • Neuronal ceroid lipofuscinosis (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Neuronal ceroid lipofuscinosis (AARS, ACTB, ACY1, ADGRV1, ADRA2B, ADSL, AFG3L2, AGTR2, AKT3, ALDH7A1, ALG13, AMT....)
  • Neuronal ceroid lipofuscinosis (ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARH....)
  • Neuropathy (AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10or....)
  • Nicolaides-Baraitser syndrome (ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1,....)
  • Niemann-Pick disease (AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, C....)
  • Nijmegen breakage syndrome (ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1,....)
  • Noonan syndrome (AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, ....)
  • Nager syndrome (ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2....)
  • Nail-patella syndrome (ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, CO....)
  • Nakajo-Nishimura syndrome (ANKH, CHST3, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDX58, HPGD, IL1RN, ....)
  • Nasu-Hakola disease (ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11....)
  • 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, ....)
  • Neurofibromatosis (BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, SHOC....)
  • Neurofibromatosis (NF1, NF2....)
  • Noonan syndrome (BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, SHOC....)
  • Noonan syndrome with multiple lentigines (BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, SHOC....)
  • NAA10 (NAA10....)
  • NAGA (NAGA....)
  • NAGLU (NAGLU....)
  • NAGPA (NAGPA....)
  • NAGS (NAGS....)
  • NAIP (NAIP....)
  • NAMPT (NAMPT....)
  • NAPRT1 (NAPRT1....)
  • NARS2 (NARS2....)
  • NAT1 (NAT1....)
  • NAT2 (NAT2....)
  • NAT8L (NAT8L....)
  • NAV2 (NAV2....)
  • NBAS (NBAS....)
  • NBEA (NBEA....)
  • NBEAL2 (NBEAL2....)
  • NBN (NBN....)
  • NBPF1 (NBPF1....)
  • NCALD (NCALD....)
  • NCAM1 (NCAM1....)
  • NCAN (NCAN....)
  • NCAPD2 (NCAPD2....)
  • NCF1 (NCF1....)
  • NCF2 (NCF2....)
  • NCF4 (NCF4....)
  • NCKAP1 (NCKAP1....)
  • NCOA1 (NCOA1....)
  • NCOA3 (NCOA3....)
  • NCR3 (NCR3....)
  • NCS1 (NCS1....)
  • NCSTN (NCSTN....)
  • NDE1 (NDE1....)
  • NDN (NDN....)
  • NDOR1 (NDOR1....)
  • NDP (NDP....)
  • NDRG1 (NDRG1....)
  • NDST1 (NDST1....)
  • NDUFA1 (NDUFA1....)
  • NDUFA10 (NDUFA10....)
  • NDUFA11 (NDUFA11....)
  • NDUFA12 (NDUFA12....)
  • NDUFA13 (NDUFA13....)
  • NDUFA2 (NDUFA2....)
  • NDUFA4 (NDUFA4....)
  • NDUFA6 (NDUFA6....)
  • NDUFA7 (NDUFA7....)
  • NDUFA8 (NDUFA8....)
  • NDUFA9 (NDUFA9....)
  • NDUFAF1 (NDUFAF1....)
  • NDUFAF2 (NDUFAF2....)
  • NDUFAF3 (NDUFAF3....)
  • NDUFAF4 (NDUFAF4....)
  • NDUFAF5 (NDUFAF5....)
  • NDUFAF6 (NDUFAF6....)
  • NDUFAF7 (NDUFAF7....)
  • NDUFB1 (NDUFB1....)
  • NDUFB3 (NDUFB3....)
  • NDUFB6 (NDUFB6....)
  • NDUFB9 (NDUFB9....)
  • NDUFC2 (NDUFC2....)
  • NDUFS1 (NDUFS1....)
  • NDUFS2 (NDUFS2....)
  • NDUFS3 (NDUFS3....)
  • NDUFS4 (NDUFS4....)
  • NDUFS5 (NDUFS5....)
  • NDUFS6 (NDUFS6....)
  • NDUFS7 (NDUFS7....)
  • NDUFS8 (NDUFS8....)
  • NDUFV1 (NDUFV1....)
  • NDUFV2 (NDUFV2....)
  • NDUFV3 (NDUFV3....)
  • NEB (NEB....)
  • NEBL (NEBL....)
  • NEDD4L (NEDD4L....)
  • NEDD9 (NEDD9....)
  • NEFH (NEFH....)
  • NEFL (NEFL....)
  • NEFM (NEFM....)
  • NEGR1 (NEGR1....)
  • NEIL1 (NEIL1....)
  • NEIL2 (NEIL2....)
  • NEK1 (NEK1....)
  • NEK8 (NEK8....)
  • NELFA (NELFA....)
  • NELL1 (NELL1....)
  • NEU1 (NEU1....)
  • NEU2 (NEU2....)
  • NEUROD1 (NEUROD1....)
  • NEUROG3 (NEUROG3....)
  • NEXN (NEXN....)
  • NF1 (NF1....)
  • NF2 (NF2....)
  • NFATC4 (NFATC4....)
  • NFE2L2 (NFE2L2....)
  • NFIA (NFIA....)
  • NFIX (NFIX....)
  • NFKB1 (NFKB1....)
  • NFKBIA (NFKBIA....)
  • NFKBIL1 (NFKBIL1....)
  • NFU1 (NFU1....)
  • NGF (NGF....)
  • NGFR (NGFR....)
  • NHEJ1 (NHEJ1....)
  • NHLRC1 (NHLRC1....)
  • NHP2 (NHP2....)
  • NHS (NHS....)
  • NID1 (NID1....)
  • NINJ1 (NINJ1....)
  • NIPA1 (NIPA1....)
  • NIPAL4 (NIPAL4....)
  • NIPBL (NIPBL....)
  • NIPSNAP1 (NIPSNAP1....)
  • NIPSNAP3A (NIPSNAP3A....)
  • NKAIN2 (NKAIN2....)
  • NKX2-1 (NKX2-1....)
  • NKX2-3 (NKX2-3....)
  • NKX2-5 (NKX2-5....)
  • NKX2-6 (NKX2-6....)
  • NKX3-1 (NKX3-1....)
  • NKX3-2 (NKX3-2....)
  • NLGN1 (NLGN1....)
  • NLGN2 (NLGN2....)
  • NLGN3 (NLGN3....)
  • NLGN4X (NLGN4X....)
  • NLGN4Y (NLGN4Y....)
  • NLRP1 (NLRP1....)
  • NLRP12 (NLRP12....)
  • NLRP14 (NLRP14....)
  • NLRP2 (NLRP2....)
  • NLRP3 (NLRP3....)
  • NLRP7 (NLRP7....)
  • NLRX1 (NLRX1....)
  • NMB (NMB....)
  • NME1 (NME1....)
  • NME8 (NME8....)
  • NMNAT1 (NMNAT1....)
  • NMT2 (NMT2....)
  • NMU (NMU....)
  • NOBOX (NOBOX....)
  • NOD1 (NOD1....)
  • NOD2 (NOD2....)
  • NODAL (NODAL....)
  • NOG (NOG....)
  • NOP10 (NOP10....)
  • NOP56 (NOP56....)
  • NOS1 (NOS1....)
  • NOS1AP (NOS1AP....)
  • NOS2 (NOS2....)
  • NOS3 (NOS3....)
  • NOTCH1 (NOTCH1....)
  • NOTCH2 (NOTCH2....)
  • NOTCH3 (NOTCH3....)
  • NOTCH4 (NOTCH4....)
  • NPAP1 (NPAP1....)
  • NPAS2 (NPAS2....)
  • NPAS3 (NPAS3....)
  • NPAT (NPAT....)
  • NPC1 (NPC1....)
  • NPC1L1 (NPC1L1....)
  • NPC2 (NPC2....)
  • NPFFR2 (NPFFR2....)
  • NPHP1 (NPHP1....)
  • NPHP3 (NPHP3....)
  • NPHP4 (NPHP4....)
  • NPHS1 (NPHS1....)
  • NPHS2 (NPHS2....)
  • NPL (NPL....)
  • NPM1 (NPM1....)
  • NPPA (NPPA....)
  • NPPB (NPPB....)
  • NPPC (NPPC....)
  • NPR1 (NPR1....)
  • NPR2 (NPR2....)
  • NPR3 (NPR3....)
  • NPSR1 (NPSR1....)
  • NPTN (NPTN....)
  • NPY (NPY....)
  • NPY1R (NPY1R....)
  • NPY2R (NPY2R....)
  • NQO1 (NQO1....)
  • NQO2 (NQO2....)
  • NR0B1 (NR0B1....)
  • NR0B2 (NR0B2....)
  • NR1H2 (NR1H2....)
  • NR1H3 (NR1H3....)
  • NR1H4 (NR1H4....)
  • NR1I2 (NR1I2....)
  • NR1I3 (NR1I3....)
  • NR2E1 (NR2E1....)
  • NR2E3 (NR2E3....)
  • NR2F1 (NR2F1....)
  • NR3C1 (NR3C1....)
  • NR3C2 (NR3C2....)
  • NR4A2 (NR4A2....)
  • NR5A1 (NR5A1....)
  • NRAS (NRAS....)
  • NRG1 (NRG1....)
  • NRG3 (NRG3....)
  • NRIP1 (NRIP1....)
  • NRL (NRL....)
  • NRP2 (NRP2....)
  • NRTN (NRTN....)
  • NRXN1 (NRXN1....)
  • NRXN2 (NRXN2....)
  • NRXN3 (NRXN3....)
  • NSD1 (NSD1....)
  • NSDHL (NSDHL....)
  • NSMF (NSMF....)
  • NSUN2 (NSUN2....)
  • NSUN7 (NSUN7....)
  • NT5C1B (NT5C1B....)
  • NT5C3A (NT5C3A....)
  • NT5E (NT5E....)
  • NTF3 (NTF3....)
  • NTF4 (NTF4....)
  • NTHL1 (NTHL1....)
  • NTNG1 (NTNG1....)
  • NTRK1 (NTRK1....)
  • NTRK2 (NTRK2....)
  • NTRK3 (NTRK3....)
  • NUAK1 (NUAK1....)
  • NUBPL (NUBPL....)
  • NUDC (NUDC....)
  • NUDT1 (NUDT1....)
  • NUDT6 (NUDT6....)
  • NUMBL (NUMBL....)
  • NUP155 (NUP155....)
  • NUP62 (NUP62....)
  • NXF3 (NXF3....)
  • NXF5 (NXF5....)
  • NXNL1 (NXNL1....)
  • NYX (NYX....)
  • Netherton syndrome (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Neutropenia, severe congenital, X-linked (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Nijmegen breakage syndrome (ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8....)
  • Nephropathy due to CFHR5 deficiency (C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CF....)
  • Neutropenia, cyclic (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Neutropenia, severe congenital 1, autosomal dominant (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Neutropenia, severe congenital 2, autosomal dominant (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Neutropenia, severe congenital 3, autosomal recessive (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Neutropenia, severe congenital 4, autosomal recessive (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Neutropenia, severe congenital 7, autosomal recessive (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Neutrophil immunodeficiency syndrome (CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR....)
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect (CARD9, CXCR4, FCGR3A, IKBKG, IL17F, IL17RA, IRAK4, MBL2, MCM4, MYD88, NFKBIA, ST....)
  • Nephronophthisis (APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, I....)