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HGNC GENE SYMBOL |
HGNC gene description | OMIM NO | DATABASE NAME/INTERNET ADDRESS | CURATORS |
|---|---|---|---|---|
| NSDHL | NAD(P) dependent steroid dehydrogenase-like | 300275 | NSDHL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NSD1 | nuclear receptor binding SET domain protein 1 | 606681 | NSD1 at LOVD | Janneke Weiss, LUMC, Leiden, Netherlands |
| NLGN4X | neuroligin 4, X-linked | 300427 | NLGN4X 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 |
| NHP2 | NHP2 ribonucleoprotein homolog (yeast) | 606470 | The Telomerase Database | Julian J-L Chen at Arizona State University |
| NOP10 | NOP10 ribonucleoprotein homolog (yeast) | 606471 | The Telomerase Database | Julian J-L Chen at Arizona State University |
| 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 |
| NAGS | N-acetylglutamate synthase | 608300 | NAGS database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NUP133 | nucleoporin 133kDa | 607613 | Nucleoporin 133kDa (NUP133) database | Belinda Giardine and Joseph Borg |
| NKRF | NFKB repressing factor | 300440 | NKRF database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NLRP7 | NLR family, pyrin domain containing 7 | 609661 | INFEVERS: The repertory of RMHs sequence variants | Rima Slim, Montreal General Hospital Research Institute, Montreal, Canada |
| NRK | Nik related kinase | 300791 | NRK database at LOVD | Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| 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 |
| NUP62CL | nucleoporin 62kDa C-terminal like | \N | NUP62CL database at LOVD | Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy |
| NIPBL | Nipped-B homolog (Drosophila) | 608667 | NIPBL - LOVD | Jorge Oliveira, Unidade de Genética Molecular, Centro de Genética Médica J. Magalhães - 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 |
| 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 |
| NCBP2L | nuclear cap binding protein subunit 2-like | \N | NCBP2L 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 |
| NOD2 | nucleotide-binding oligomerization domain containing 2 | 605956 | Crohn's Disease & Blau Syndrome; INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations | Jean-pierre Hugot & Suzanne Lesage, INSERM 289, Paris, France |
| 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 |
| 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 |
| 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 |
| 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 |
| NOG | noggin | 602991 | Sequence alterations in the NOG gene | Sarah Emery |
| 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 |
| NRL | neural retina leucine zipper | 162080 | Mutations of the Neuroretina-linked Leucine Zipper Gene | Retina International |
| 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 |
| 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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