A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
NAGS N-acetylglutamate synthase 608300 NAGS database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NAP1L2 nucleosome assembly protein 1-like 2 300026 NAP1L2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NAP1L3 nucleosome assembly protein 1-like 3 300117 NAP1L3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NAP1L6 nucleosome assembly protein 1-like 6 \N NAP1L6 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) 108345 Arylamine N-Acetyltransferase(Note- Not really a variation database but useful-lists alleles & nomenclature) David W. Hein, Dept Pharmacology & Toxicology Univ. Sch. Med. Louisville, Kentucky USA; Denis M. Grant, The Hospital for Sick Children, Toronto Canada; Edith Sim, Dept Pharmacology Univ. Oxford, UK
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) 612182 Arylamine N-Acetyltransferase (Note- Not really a variation database but useful-lists alleles & nomenclature) David W. Hein, Dept Pharmacology & Toxicology, Univ. Sch. Med. Louisville, Kentucky, USA; Denis M. Grant, The Hospital for Sick Children, Toronto, Canada; Edith Sim, Dept Pharmacology, Univ. Oxford, UK
NBN nibrin 602667 NBN - Leiden Open Variation Database Jacopo Celli Leiden Univ. Med Centre (acting), Curator vacancy
NCBP2L nuclear cap binding protein subunit 2-like \N NCBP2L database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NCF1 neutrophil cytosolic factor 1 608512 NCF1base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p47phox Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
NCF2 neutrophil cytosolic factor 2 608515 NCF2base: Mutation registry for autosomal recessive chronic granulomatous disease (CGD), deficiency of p67phox Dirk Roos, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
NDP Norrie disease (pseudoglioma) 300658 Mutations of the Norrie Disease Gene Retina International
NDRG1 N-myc downstream regulated 1 605262 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 300078 NDUFA1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NEB nebulin 161650 Leiden Muscular Dystrophy Pages Katarina Pelin, Tom Winder, Vilma-Lotta Lehtokari & Johan den Dunnen
NEFL neurofilament, light polypeptide 162280 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics, Department, Flanders Interuniversity, Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
NF1 neurofibromin 1 162200 NF1 @ The Center for Medical Genetics, Ghent University Hospital, Belgium Ophelia Maertens, Centre for Medical Genetics, Gent, Belgium
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 164008 NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
NGF nerve growth factor (beta polypeptide) 162030 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
NHEJ1 nonhomologous end-joining factor 1 611290 NHEJ1base: Mutation registry for Combined immunodeficiency (CID) associated with microcephaly and increased cellular sensitivity to IR Mauno Vihinen, Univ. of Tampere, Tampere, Finland
NHP2 NHP2 ribonucleoprotein homolog (yeast) 606470 The Telomerase Database Julian J-L Chen at Arizona State University
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) 300457 NHS database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NHSL2 NHS-like 2 \N NHSL2 database at LOVD http://www.LOVD.nl/NHSL2
NIPBL Nipped-B homolog (Drosophila) 608667 NIPBL - LOVD Jorge Oliveira, Unidade de Genética Molecular, Centro de Genética Médica J. Magalh?es - INSA, Porto, Portugal; Johan T. den Dunnen Leiden Univ.Med Centre, Leiden, The Netherlands
NKAP NFKB activating protein 300766 NKAP database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NKRF NFKB repressing factor 300440 NKRF database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NLGN3 neuroligin 3 300336 NLGN3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NLGN4X neuroligin 4, X-linked 300427 NLGN4X database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NLRP3 NLR family, pyrin domain containing 3 606416 INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations Hal Hoffmann, Medicine and Pediatrics, University of California at San Diego, La Jolla,USA
NLRP7 NLR family, pyrin domain containing 7 609661 INFEVERS: The repertory of RMHs sequence variants Rima Slim, Montreal General Hospital Research Institute, Montreal, Canada
NOD2 nucleotide-binding oligomerization domain containing 2 605956 Jean-pierre Hugot & Suzanne Lesage, INSERM 289, Paris, France
NOG noggin 602991 Sequence alterations in the NOG gene Sarah Emery
NOP10 NOP10 ribonucleoprotein homolog (yeast) 606471 The Telomerase Database Julian J-L Chen at Arizona State University
NOS1 nitric oxide synthase 1 (neuronal) 163731 Nitric oxide synthase 1 (neuronal) (NOS1) database Belinda Giardine and Joseph Borg
NOS2 nitric oxide synthase 2, inducible 163730 Nitric oxide synthase 2, inducible (NOS2A) database Belinda Giardine and Joseph Borg
NOS3 nitric oxide synthase 3 (endothelial cell) 163729 Nitric oxide synthase 3 (endothelial cell) (NOS3) database Belinda Giardine and Joseph Borg
NOTCH2 notch 2 600275 Notch homolog 2 (Drosophila) (NOTCH2) Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NOTCH3 notch 3 600276 Notch homolog 3 (NOTCH3) Elles Boon, LUMC, Leiden, Nederland
NOX1 NADPH oxidase 1 300225 NOX1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NOX3 NADPH oxidase 3 607105 NADPH oxidase 3 (NOX3) database Belinda Giardine and Joseph Borg
NR0B1 nuclear receptor subfamily 0, group B, member 1 300473 NROB1 - adrenal hypoplasia (DAX1) Bert Bakker, LUMC, Leiden, Nederland
NR2E3 nuclear receptor subfamily 2, group E, member 3 604485 Mutations of the Photoreceptor cell-specific Nuclear Receptor Retina International
NR2E3 nuclear receptor subfamily 2, group E, member 3 604485 NR2E3 database at LOVD Pascal Escher, IRO-Institut de Recherche en Ophtalmologie, Switzerland
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 138040 Glucocorticoid Receptor Resource database S.Stoney Simons, Mark Danielsen, Georgetown Univ. Georgetown, USA
NRK Nik related kinase 300791 NRK database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NRL neural retina leucine zipper 162080 Mutations of the Neuroretina-linked Leucine Zipper Gene Retina International
NSD1 nuclear receptor binding SET domain protein 1 606681 NSD1 at LOVD Janneke Weiss, LUMC, Leiden, Netherlands
NSDHL NAD(P) dependent steroid dehydrogenase-like 300275 NSDHL database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 191315 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
NUP133 nucleoporin 133kDa 607613 Nucleoporin 133kDa (NUP133) database Belinda Giardine and Joseph Borg
NUP62CL nucleoporin 62kDa C-terminal like \N NUP62CL database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NXF3 nuclear RNA export factor 3 300316 NXF3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NXF5 nuclear RNA export factor 5 300319 NXF5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
NYX nyctalopin 300278 Mutations of Nyctalopin Retina International

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