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Genes Associated with Diseases

10,706 "disease genes" are currently present in the GeneCards database

Showing 440 "disease genes" starting with 'N'

1  3  5  A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z  Complete list

The genes listed here cause, predispose or protect from diseases

GeneCards Gene Gene Name Locus MalaCards Disorders (sorted by relevance)
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit Xq28 Ogden Syndrome,  Lenz Microphthalmia Syndrome Oculofaciocardiodental Syndrome
NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4q31.1 Gastric Cancer Retinopathy Of Prematurity
NAA20 N(alpha)-acetyltransferase 20, NatB catalytic subunit 20p11.23 Eastern Equine Encephalitis
NAA30 N(alpha)-acetyltransferase 30, NatC catalytic subunit 14q22.3 Eastern Equine Encephalitis
NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1) 2q32.2 Charcot-Marie-Tooth Disease Type 3 Charcot-Marie-Tooth Disease Type 1
NAB2 NGFI-A binding protein 2 (EGR1 binding protein 2) 12q13.3 Solitary Fibrous Tumor Melanoma
NABP1 nucleic acid binding protein 1 2q32.3 Acute Promyelocytic Leukemia
NACA nascent polypeptide-associated complex alpha subunit 12q13.3 Lethal Midline Granuloma,  Atopic Dermatitis Dermatitis
NACA3P NACA family member 3 pseudogene 4q32.3 Babesiosis
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 19p13.2 Hyperargininemia
NADK2 NAD kinase 2, mitochondrial 5p13.2 2,4-Dienoyl-Coa Reductase Deficiency
NAFLD1 Fatty liver disease 1, susceptiblity to 22q13 Fatty Liver Disease, Nonalcoholic 1,  Fatty Liver Disease Liver Disease
NAFLD2 Fatty liver disease, nonalcoholic, susceptibility to, 2 11q23 Fatty Liver Disease, Nonalcoholic 2,  Fatty Liver Disease Liver Disease
NAGA N-acetylgalactosaminidase, alpha- 22q13.2 Schindler Disease,  Kanzaki Disease,  Angiokeratoma,  Neuroaxonal Dystrophy,  Schindler Disease, Type Iii,  Schindler Disease, Type 1,  Fucosidosis,  Fabry Disease,  Neuroaxonal Dystrophy, Infantile,  Blind Loop Syndrome,  Beta-Mannosidosis,  Mannosidosis,  Type 1 Diabetes Mellitus Picks Disease Show all 14
NAGLU N-acetylglucosaminidase, alpha 17q21.2 Mucopolysaccharidosis Iii,  Pyelonephritis,  Chronic Pyelonephritis,  Oligohydramnios,  Acute Pyelonephritis,  Iga Glomerulonephritis,  Hydronephrosis,  Subacute Thyroiditis,  Hypertensive Nephropathy,  Proteinuria,  Agoraphobia,  Cystitis,  Nephrotic Syndrome,  Vesicoureteral Reflux,  Unilateral Renal Agenesis,  Renal Agenesis,  Hepatorenal Syndrome,  Type 2 Diabetes Mellitus,  Myocardial Infarction Type 1 Diabetes Mellitus Show all 20
NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 16p13.3 Speech Disorder
NAGS N-acetylglutamate synthase 17q21.31 N-Acetylglutamate Synthase Deficiency,  Urea Cycle Disorder,  Carbamoyl Phosphate Synthetase I Deficiency Disease Propionic Acidemia Show all 4
NAIP NLR family, apoptosis inhibitory protein 5q13.2 Legionellosis,  Spinal Muscular Atrophy,  Muscular Atrophy,  Werdnig-Hoffmann Disease,  Proximal Spinal Muscular Atrophy,  Juvenile Spinal Muscular Atrophy,  Spinal Muscular Atrophy Type 2,  Spinal Muscular Atrophy 1,  Motor Neuron Disease Neuromuscular Disease Show all 10
NALCN sodium leak channel, non-selective 13q33.1 Neuroaxonal Neurodegeneration, Infantile, With Facial Dysmophism Neuroaxonal Dystrophy
NAMA non-protein coding RNA, associated with MAP kinase pathway and growth arrest 9q22.33 Papillary Thyroid Carcinoma
NAMPT nicotinamide phosphoribosyltransferase 7q22.3 Idiopathic Recurrent Pericarditis,  Gestational Diabetes,  Insulin Resistance,  Type 2 Diabetes Mellitus,  Obesity Pericarditis Show all 6
NANOG Nanog homeobox 12p13.31 Ovarian Germ Cell Tumor,  Sacrococcygeal Teratoma,  Serous Cystadenocarcinoma Ovarian Serous Cystadenocarcinoma Show all 4
NANOGP8 Nanog homeobox pseudogene 8 15q14 Breast Adenocarcinoma
NANOS1 nanos homolog 1 (Drosophila) 10q26.11 Spermatogenic Failure 12,  Globozoospermia,  Atherosclerosis Spermatogenic Failure 8 Show all 4
NANOS2 nanos homolog 2 (Drosophila) 19q13.32 Spermatocytoma
NANS N-acetylneuraminic acid synthase 9q22.33 Hard Palate Cancer Alexithymia
NAP1L4 nucleosome assembly protein 1-like 4 11p15.4 Wilms Tumor,  Breast Cancer Beckwith-Wiedemann Syndrome
NAPB N-ethylmaleimide-sensitive factor attachment protein, beta 20p11.21 Leukemia, Acute Myeloid, Therapy-Related,  Ovarian Cancer Hereditary Neuralgic Amyotrophy
NAPRT1 nicotinate phosphoribosyltransferase domain containing 1 8q24.3 Pellagra,  Methylmalonic Aciduria And Homocystinuria Type Cble,  Methylmalonic Aciduria And Homocystinuria Type Cblg,  Methylmalonic Aciduria And Homocystinuria Type Cblc,  Methylmalonic Aciduria And Homocystinuria Type Cblf,  Methylmalonic Aciduria And Homocystinuria Type Cbld,  Intrinsic Factor Deficiency,  Cbld,  Cblg,  Cble,  Cblf Multiple Carboxylase Deficiency Show all 12
NAPSA napsin A aspartic peptidase 19q13.33 Sarcomatoid Mesothelioma,  Lung Adenocarcinoma Lung Squamous Cell Carcinoma
NARFL nuclear prelamin A recognition factor-like 16p13.3 Pertussis
NARG2 NMDA receptor regulated 2 15q22.2 Breast Cancer
NARS2 asparaginyl-tRNA synthetase 2, mitochondrial (putative) 11q14.1 Inclusion Conjunctivitis
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase) 8p22 Multiple Chemical Sensitivity,  Orthostatic Intolerance,  Drug-Induced Hepatitis,  Talipes Equinovarus,  Non-Hodgkin Lymphoma,  Spina Bifida Neural Tube Defects Show all 7
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase) 8p22 Susceptibility To Adverse Reaction Due To Isoniazide Treatment,  Isoniazid Toxicity,  Multiple Chemical Sensitivity,  Drug-Induced Hepatitis,  Chromosome 8P Deletion,  Discoid Lupus Erythematosus,  Laryngeal Squamous Cell Carcinoma,  Tuberculosis,  Talipes Equinovarus,  Mutagen Sensitivity,  Liver Cirrhosis,  Colorectal Adenoma,  Alcoholic Liver Cirrhosis,  Parkinsons Disease,  Non-Hodgkin Lymphoma,  Behcets Disease,  Lung Cancer,  Breast Cancer,  Bladder Cancer Susceptibility,  Spina Bifida Colorectal Cancer Show all 21
NAT6 N-acetyltransferase 6 (GCN5-related) 3p21.31 Lung Cancer Lung Cancer Susceptibility
NAT8L N-acetyltransferase 8-like (GCN5-related, putative) 4p16.3 N-Acetylaspartate Deficiency
NAV2 neuron navigator 2 11p15.1 Neuroblastoma 1 Neuroblastoma
NAV3 neuron navigator 3 12q21.2 Subcutaneous Panniculitis-Like T-Cell Lymphoma
NBAS neuroblastoma amplified sequence 2p24.3 Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly,  Pelger-Huet Anomaly,  Neuroblastoma Short Stature Show all 4
NBEA neurobeachin 13q13.3 Multiple Myeloma,  Myeloma Chediak-Higashi Syndrome
NBEAL1 neurobeachin-like 1 2q33.2 Ovary Serous Adenocarcinoma,  Amyotrophic Lateral Sclerosis Lateral Sclerosis
NBEAL2 neurobeachin-like 2 3p21.31 Gray Platelet Syndrome
NBL1 neuroblastoma 1, DAN family BMP antagonist 1p36.13 Neuroblastoma,  Neuroblastoma 1 Meningioma
NBLST4 Neuroblastoma, susceptibility to, 4 6p22 Neuroblastoma 4,  Neuroblastoma Neuroblastoma, Susceptibility
NBLST5 Neuroblastoma, susceptibility to, 5 2q35 Neuroblastoma 5,  Neuroblastoma Neuroblastoma, Susceptibility
NBLST6 Neuroblastoma, susceptibility to, 6 1q21.1 Neuroblastoma 6,  Neuroblastoma Neuroblastoma, Susceptibility
NBN nibrin 8q21.3 Nijmegen Breakage Syndrome,  Gastrointestinal Lymphoma,  Breast Cancer,  Prostate Cancer,  Non-Hodgkin Lymphoma,  Hodgkins Lymphoma,  Breast Cancer Susceptibility,  Breast-Ovarian Cancer, Familial, 1,  Aplastic Anemia,  Ataxia-Telangiectasia Variant,  Porokeratosis,  Male Breast Cancer,  Ovarian Cancer,  Ataxia Telangiectasia,  Breast Cancer, Protection Against,  Breast Cancer, Early-Onset,  Breast Cancer, Lobular,  Breast Cancer, Invasive Ductal Breast Cancer, Somatic Show all 19
NBPF1 neuroblastoma breakpoint family, member 1 1p36.13 Neuroblastoma,  Schizophrenia Congenital Heart Disease
NBPF10 neuroblastoma breakpoint family, member 10 1q21.1 Neuroblastoma Schizophrenia
NBPF11 neuroblastoma breakpoint family, member 11 1q21.1 Neuroblastoma
NBPF12 neuroblastoma breakpoint family, member 12 1q21.1 Neuroblastoma Schizophrenia
NBPF13P neuroblastoma breakpoint family, member 13, pseudogene 1q21.1 Neuroblastoma Schizophrenia
NBPF14 neuroblastoma breakpoint family, member 14 1q21.2 Neuroblastoma Schizophrenia
NBPF15 neuroblastoma breakpoint family, member 15 1q21.2 Neuroblastoma Schizophrenia
NBPF17P neuroblastoma breakpoint family, member 17, pseudogene 1q21.2 Neuroblastoma
NBPF18P neuroblastoma breakpoint family, member 18, pseudogene 1q21.3 Neuroblastoma,  Schizophrenia Congenital Heart Disease
NBPF19 neuroblastoma breakpoint family, member 19 1q21 Neuroblastoma
NBPF20 neuroblastoma breakpoint family, member 20 1q21.2 Neuroblastoma Schizophrenia
NBPF21P neuroblastoma breakpoint family, member 21, pseudogene 3p22.2 Neuroblastoma,  Schizophrenia Congenital Heart Disease
NBPF22P neuroblastoma breakpoint family, member 22, pseudogene 5q14.3 Neuroblastoma Schizophrenia
NBPF23P neuroblastoma breakpoint family, member 23, pseudogene 1q21.2 Neuroblastoma,  Schizophrenia Congenital Heart Disease
NBPF25P neuroblastoma breakpoint family, member 25, pseudogene 1q21.1 Neuroblastoma,  Schizophrenia Congenital Heart Disease
NBPF26 neuroblastoma breakpoint family, member 26 1q21.1 Neuroblastoma
NBPF2P neuroblastoma breakpoint family, member 2, pseudogene 1p36.12 Neuroblastoma,  Schizophrenia Congenital Heart Disease
NBPF3 neuroblastoma breakpoint family, member 3 1p36.12 Neuroblastoma Schizophrenia
NBPF4 neuroblastoma breakpoint family, member 4 1p13.3 Neuroblastoma Schizophrenia
NBPF5P neuroblastoma breakpoint family, member 5, pseudogene 1p13.3 Neuroblastoma
NBPF6 neuroblastoma breakpoint family, member 6 1p13.3 Neuroblastoma Schizophrenia
NBPF7 neuroblastoma breakpoint family, member 7 1p12 Neuroblastoma Schizophrenia
NBPF8 neuroblastoma breakpoint family, member 8 1q21.1 Neuroblastoma,  Schizophrenia Genital Herpes
NBPF9 neuroblastoma breakpoint family, member 9 1q21.1 Neuroblastoma,  Congenital Heart Disease Schizophrenia
NBR1 neighbor of BRCA1 gene 1 17q21.31 Ovarian Cancer Synucleinopathy
NCAM1 neural cell adhesion molecule 1 11q23.2 Small Cell Carcinoma,  Salivary Gland Tumor,  Subcutaneous Panniculitis-Like T-Cell Lymphoma,  Bile Duct Disease,  Transitional Meningioma,  Monoclonal Gammopathy Of Uncertain Significance,  Meningioma,  Gastric Small Cell Carcinoma,  Blastic Plasmacytoid Dendritic Cell,  Pancreas Adenocarcinoma,  Myxopapillary Ependymoma,  Chordoid Meningioma,  Primary Pigmented Nodular Adrenocortical Disease,  Panniculitis,  Pancreatic Endocrine Carcinoma,  Myeloid Sarcoma,  Centronuclear Myopathy,  Sarcoglycanopathies,  Myeloma,  Perineurioma Ependymoma Show all 21
NCAPG non-SMC condensin I complex, subunit G 4p15.31 Melanoma Croup
NCBP1 nuclear cap binding protein subunit 1, 80kDa 9q22.33 Asthenopia
NCDN neurochondrin 1p34.3 Osteochondrosis
NCF1 neutrophil cytosolic factor 1 7q11.23 Chronic Granulomatous Disease Due To Deficiency Of Ncf-1,  Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type I,  Chronic Granulomatous Disease Idiopathic Pulmonary Fibrosis Show all 4
NCF2 neutrophil cytosolic factor 2 1q25.3 Chronic Granulomatous Disease Due To Deficiency Of Ncf-2,  Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Ii,  Chronic Granulomatous Disease Chronic Granulomatous Disease Due To Deficiency Of Ncf-1 Show all 4
NCF4 neutrophil cytosolic factor 4, 40kDa 22q12.3 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Iii,  Chronic Granulomatous Disease Chronic Granulomatous Disease Due To Deficiency Of Ncf-1
NCK1 NCK adaptor protein 1 3q22.3 Wiskott-Aldrich Syndrome
NCK2 NCK adaptor protein 2 2q12.2 Craniofrontonasal Syndrome Low Tension Glaucoma
NCKAP1 NCK-associated protein 1 2q32.1 Nance-Horan Syndrome
NCKAP1L NCK-associated protein 1-like 12q13.13 Hypochromic Anemia
NCKAP5 NCK-associated protein 5 2q21.2 Hypersomnia
NCKIPSD NCK interacting protein with SH3 domain 3p21.31 Wiskott-Aldrich Syndrome
NCL nucleolin 2q37.1 Parainfluenza Virus Type 3
NCOA1 nuclear receptor coactivator 1 2p23.3 Trachea Leiomyoma Goldenhar Syndrome
NCOA2 nuclear receptor coactivator 2 8q13.3 Prostate Cancer,  Partial Androgen Insensitivity Syndrome,  Spindle Cell Rhabdomyosarcoma Mesenchymal Chondrosarcoma Show all 4
NCOA3 nuclear receptor coactivator 3 20q13.12 Breast Cancer
NCOA4 nuclear receptor coactivator 4 10q11.23 Papillary Thyroid Carcinoma,  Follicular Thyroid Carcinoma Prostate Cancer
NCOA6 nuclear receptor coactivator 6 20q11.22 Breast Cancer
NCOR2 nuclear receptor corepressor 2 12q24.31 Thyroid Hormone Resistance Syndrome
NCR3 natural cytotoxicity triggering receptor 3 6p21.33 Proliferative Vitreoretinopathy,  Malaria, Mild,  Malaria,  Allergic Contact Dermatitis,  Cytomegalovirus Infection Contact Dermatitis Show all 6
NCSTN nicastrin 1q23.2 Acne Inversa, Familial, 1,  Hidradenitis Suppurativa,  Acne,  Hidradenitis Alzheimers Disease Show all 5
NDC80 NDC80 kinetochore complex component 18p11.32 Retinoblastoma
NDE1 nudE neurodevelopment protein 1 16p13.11 Lissencephaly 4,  Hydranencephaly,  Lissencephaly,  Microhydranencephaly Microcephaly Show all 5
NDEL1 nudE neurodevelopment protein 1-like 1 17p13.1 Iridocyclitis
NDFIP1 Nedd4 family interacting protein 1 5q31.3 Breast Cancer
NDFIP2 Nedd4 family interacting protein 2 13q31.1 Hypochromic Anemia
NDIC Nail dysplasia, isolated congenital 17p13 Nail Dysplasia, Isolated Congenital
NDN necdin, melanoma antigen (MAGE) family member 15q11.2 Prader-Willi Syndrome,  Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2,  Prader-Willi Syndrome Due To Imprinting Mutation,  Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15,  Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1,  Angelman Syndrome Autism Spectrum Disorder Show all 7
NDNC9 Nail disorder, nonsyndromic congenital, 9 17q25.1-q25.3 Nail Disorder, Nonsyndromic Congenital, 9
NDNL2 necdin-like 2 15q13.1 Hepatocellular Carcinoma
NDOR1 NADPH dependent diflavin oxidoreductase 1 9q34.3 Colorectal Adenocarcinoma
NDP Norrie disease (pseudoglioma) Xp11.3 Ndp-Related Retinopathies,  X-Linked Familial Exudative Vitreoretinopathy,  Norrie Disease,  Exudative Vitreoretinopathy,  Telangiectasis,  Exudative Vitreoretinopathy 2, X-Linked,  Coats Disease,  Retinopathy Of Prematurity,  Osteoporosis-Pseudoglioma Syndrome,  Retinoschisis,  Persistent Hyperplastic Primary Vitreous, Autosomal Recessive,  Venous Insufficiency,  Klippel-Trenaunay Syndrome Osteoporosis Show all 14
NDRG1 N-myc downstream regulated 1 8q24.22 Charcot-Marie-Tooth Neuropathy Type 4D,  Neuropathy, Hereditary Motor And Sensory, Lom Type,  Central Neurocytoma,  Charcot-Marie-Tooth Neuropathy Type 4,  Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Show all 6
NDRG2 NDRG family member 2 14q11.2 Glioblastoma
NDRG3 NDRG family member 3 20q11.23 Motor Peripheral Neuropathy
NDRG4 NDRG family member 4 16q21 Motor Peripheral Neuropathy
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 5q33.1 Treacher Collins Syndrome
NDST3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 4q26 Mast Cell Neoplasm
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa Xq24 Mitochondrial Complex I Deficiency,  Fanconi Anemia, Complementation Group A,  Leigh Disease Leber Hereditary Optic Neuropathy Show all 4
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 2q37.3 Leigh Disease,  Leigh Syndrome With Leukodystrophy Mitochondrial Dna Deletion Syndromes
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa 19p13.3 Mitochondrial Complex I Deficiency
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 12q22 Orbital Cancer,  Placenta Praevia,  Mitochondrial Dna Deletion Syndromes,  Leigh Syndrome Due To Mitochondrial Complex I Deficiency Mitochondrial Dna-Associated Leigh Syndrome And Narp Show all 5
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 19p13.11 Thyroid Hurthle Cell Carcinoma,  Follicular Thyroid Carcinoma Kidney Cancer
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa 5q31.3 Leigh Syndrome Due To Mitochondrial Complex I Deficiency,  Mitochondrial Dna Deletion Syndromes,  Leigh Syndrome With Leukodystrophy,  Mitochondrial Disorders,  Mitochondrial Dna-Associated Leigh Syndrome And Narp,  Mitochondrial Complex I Deficiency Leigh Disease Show all 7
NDUFA4 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa 7p21.3 Dandy-Walker Syndrome Cytochrome-C Oxidase Deficiency Disease
NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa 22q13.2 21-Hydroxylase Deficiency
NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 9q33.2 Leigh Disease Mitochondrial Complex I Deficiency
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 12p13.32 Leigh Syndrome Due To Mitochondrial Complex I Deficiency,  Mitochondrial Dna Deletion Syndromes Mitochondrial Complex I Deficiency
NDUFAB1 NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa 16p12.2 Hcl-V
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 15q15.1 Fatal Infantile Hypertrophic Cardiomyopathy Due To Mitochondrial Complex I Deficiency Mitochondrial Complex I Deficiency
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 5q12.1 Leigh Disease,  Mitochondrial Complex I Deficiency Mitochondrial Dna Deletion Syndromes
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 3p21.31 Mitochondrial Complex I Deficiency
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 6q16.1 Mitochondrial Complex I Deficiency
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 20p12.1 Mitochondrial Complex I Deficiency,  Leigh Disease,  Leigh Syndrome Due To Cytochrome C Oxidase Deficiency,  Leigh Syndrome Due To Mitochondrial Cox4 Deficiency,  Leigh Syndrome, Due To Cox Deficiency Leigh Syndrome Due To Mitochondrial Complex I Deficiency Show all 6
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 8q22.1 Leigh Syndrome Due To Mitochondrial Complex I Deficiency,  Leigh Syndrome With Leukodystrophy,  Leigh Disease,  Mitochondrial Complex I Deficiency,  Mitochondrial Disorders Mitochondrial Dna Deletion Syndromes Show all 6
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa 2q33.1 Mitochondrial Complex I Deficiency Leigh Disease
NDUFB6 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa 9p21.1 Mitochondrial Complex I Deficiency
NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa 10q24.31 Epicondylitis,  Myofascial Pain Syndrome Spondylosis
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 8q24.13 Mitochondrial Complex I Deficiency
NDUFC2 NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa 11q14.1 Lung Cancer Papillary Thyroid Carcinoma
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 2q33.3 Progressive Cavitating Leukoencephalopathy,  Mitochondrial Complex I Deficiency,  Leigh Disease Leigh Syndrome With Leukodystrophy Show all 4
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 1q23.3 Tricuspid Valve Prolapse Mitochondrial Complex I Deficiency
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 11p11.2 Tungiasis,  Leigh Syndrome Due To Mitochondrial Complex I Deficiency,  Mitochondrial Complex I Deficiency,  Mitochondrial Dna Deletion Syndromes,  Leigh Syndrome With Leukodystrophy Leigh Disease Show all 6
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) 5q11.2 Leigh Disease,  Leigh Syndrome With Leukodystrophy,  Landau-Kleffner Syndrome,  Bursitis,  Mitochondrial Complex I Deficiency,  Fatal Infantile Lactic Acidosis,  Parkinsons Disease,  Schizophrenia,  Focal Dystonia,  Leigh-Like Syndrome,  Optic Nerve Hypoplasia,  Leber Hereditary Optic Neuropathy,  Melas Syndrome Mitochondrial Dna Deletion Syndromes Show all 14
NDUFS5 NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) 1p34.3 Atrophic Gastritis
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) 5p15.33 Mitochondrial Complex I Deficiency Leigh Disease
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 19p13.3 Leigh Disease,  Mitochondrial Dna Deletion Syndromes,  Leigh Syndrome With Leukodystrophy,  Mitochondrial Complex I Deficiency,  Mitochondrial Dna-Associated Leigh Syndrome And Narp,  Mitochondrial Disorders Leigh Syndrome Due To Mitochondrial Complex I Deficiency Show all 7
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 11q13.2 Leigh Syndrome Due To Mitochondrial Complex I Deficiency,  Leigh Syndrome With Leukodystrophy,  Mitochondrial Dna Deletion Syndromes,  Leigh Disease,  Mitochondrial Complex I Deficiency,  Leigh Syndrome Due To Cytochrome C Oxidase Deficiency,  Leigh Syndrome Due To Mitochondrial Cox4 Deficiency Leigh Syndrome, Due To Cox Deficiency Show all 8
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 11q13.2 Alexander Disease,  Mitochondrial Complex I Deficiency,  Spastic Diplegia,  Leigh Disease,  Leigh Syndrome With Leukodystrophy,  Leigh Syndrome Due To Cytochrome C Oxidase Deficiency,  Leigh Syndrome Due To Mitochondrial Cox4 Deficiency,  Leigh Syndrome Due To Mitochondrial Complex I Deficiency Leigh Syndrome, Due To Cox Deficiency Show all 9
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 18p11.22 Bipolar Disorder,  Schizophrenia,  Mitochondrial Complex I Deficiency Hypertrophic Cardiomyopathy Show all 4
NDUFV3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 21q22.3 Autosomal Recessive Nonsyndromic Deafness
NEB nebulin 2q23.3 Nemaline Myopathy 2,  Severe Congenital Nemaline Myopathy,  Nemaline Myopathy 2, Autosomal Recessive,  Nebulin-Related Early-Onset Distal Myopathy,  Neb-Related Nemaline Myopathy,  Myopathy,  Nemaline Myopathy,  Typical Nemaline Myopathy,  Intermediate Nemaline Myopathy,  Childhood-Onset Nemaline Myopathy,  Nemaline Myopathy 5, Amish Type Dystrophinopathies Show all 12
NEBL nebulette 10p12.31 Ebstein Anomaly Endocardial Fibroelastosis
NECAP1 NECAP endocytosis associated 1 12p13.31 Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 2
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 15q21.3 Keloid Formation Pseudohypoaldosteronism Type 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 18q21.31 Essential Hypertension,  Hypertension Liddle Syndrome
NEDD8 neural precursor cell expressed, developmentally down-regulated 8 14q12 Glomuvenous Malformation
NEDE nephropathy, progressive, with deafness 11q24 Nephropathy, Progressive, With Deafness
NEFH neurofilament, heavy polypeptide 22q12.2 Tropical Spastic Paraparesis,  Amyotrophic Lateral Sclerosis Type 14,  Spastic Paraparesis,  Toxic Encephalopathy,  Amyotrophic Lateral Sclerosis,  Lateral Sclerosis,  Motor Neuron Disease,  Hyperphenylalaninemia,  Amyotrophic Lateral Sclerosis Type 18 Leber Hereditary Optic Neuropathy Show all 10
NEFL neurofilament, light polypeptide 8p21.2 Charcot-Marie-Tooth Neuropathy Type 2E/1F,  Charcot-Marie-Tooth Disease Type 2,  Charcot-Marie-Tooth Disease Type 1F,  Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency,  Charcot-Marie-Tooth Disease,  Tooth Disease,  Charcot-Marie-Tooth Neuropathy Type 2,  Charcot-Marie-Tooth Disease Type 1,  Charcot-Marie-Tooth Neuropathy Type 1,  Tropical Spastic Paraparesis,  Axonal Neuropathy,  Spastic Paraparesis,  Schizophrenia Parkinsons Disease Show all 14
NEFM neurofilament, medium polypeptide 8p21.2 Wallerian Degeneration,  Charcot-Marie-Tooth Disease Type 2 Toxic Encephalopathy
NEGR1-IT1 NEGR1 intronic transcript 1 (non-protein coding) 1p31.1 Systemic Lupus Erythematosus
NEIL1 nei endonuclease VIII-like 1 (E. coli) 15q24.2 Familial Colorectal Cancer,  Primary Sclerosing Cholangitis,  Sclerosing Cholangitis Steroid-Resistant Nephrotic Syndrome Show all 4
NEK1 NIMA-related kinase 1 4q33 Short Rib-Polydactyly Syndrome Type 2,  Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly,  Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly,  Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly,  Polycystic Kidney Disease,  Sensenbrenner Syndrome Asphyxiating Thoracic Dystrophy Show all 7
NEK2 NIMA-related kinase 2 1q32.3 Retinitis Pigmentosa 67,  Van Der Woude Syndrome,  Retinitis Pigmentosa Plexiform Neurofibroma Show all 4
NEK3 NIMA-related kinase 3 13q14.3 Muscular Phosphorylase Kinase Deficiency,  Muscle Phosphorylase Kinase Deficiency,  Phosphorylase Kinase Deficiency Muscle Glycogenosis Show all 4
NEK4 NIMA-related kinase 4 3p21.1 Coffin-Lowry Syndrome
NEK8 nimA-related kinase 8 17q11.2 Renal-Hepatic-Pancreatic Dysplasia 2,  Nephronophthisis 9,  Breast Malignant Phyllodes Tumor,  Jaw Cancer,  Renal-Hepatic-Pancreatic Dysplasia,  Kidney Disease,  Polycystic Kidney Disease,  Infantile Nephronophthisis,  Renal-Hepatic-Pancreatic Dysplasia 1 Nephronophthisis 1, Juvenile Show all 10
NELFA negative elongation factor complex member A 4p16.3 Wolf-Hirschhorn Syndrome
NELL1 NEL-like 1 (chicken) 11p15.1 Gnathodiaphyseal Dysplasia Craniosynostosis
NEMF nuclear export mediator factor 14q21.3 Colon Cancer
NENF neudesin neurotrophic factor 1q32.3 Spinal Cord Injury
NES nestin 1q23.1 Pituitary Infarct,  Anaplastic Oligoastrocytoma,  Anaplastic Ganglioglioma,  Periventricular Leukomalacia,  Leukomalacia,  Medulloepithelioma,  Papillary Glioneuronal Tumor,  Brain Ischemia,  Oligoastrocytoma,  Glioblastoma Multiforme,  Central Neurocytoma,  Brain Glioma,  Subependymal Giant Cell Astrocytoma,  Optic Nerve Glioma,  Central Nervous System Germ Cell Tumor,  Dysembryoplastic Neuroepithelial Tumor,  Subependymoma,  Gastrointestinal Stromal Tumor,  Ganglioglioma,  Astrocytoma,  Pilocytic Astrocytoma,  Osteochondroma,  Hemangioblastoma,  Creutzfeldt-Jakob Disease,  Solitary Fibrous Tumor,  Pancreatic Cancer,  Malignant Peripheral Nerve Sheath Tumor Glioblastoma Show all 28
NET1 neuroepithelial cell transforming 1 10p15.1 Orthostatic Intolerance Skin Squamous Cell Carcinoma
NEU1 sialidase 1 (lysosomal sialidase) 6p21.33 Sialidosis Type I,  Swine Influenza,  Newcastle Disease,  Avian Influenza,  Parainfluenza Virus Type 3,  Sialidosis, Type Ii,  Congenital Sialidosis Type 2,  Juvenile Sialidosis Type 2,  Bacterial Vaginosis,  Galactosialidosis,  Influenza,  Canavan Disease,  Inflammatory Breast Carcinoma,  Hydrops Fetalis,  Plague,  Gangliosidosis,  Malaria,  Vacuolar Myopathy,  Abacavir Hypersensitivity,  Chagas Disease,  Gm1 Gangliosidosis Type 2,  Myoclonus,  Mumps,  Gangliosidosis Gm1,  Bernard-Soulier Syndrome,  Lysosomal Storage Disease,  Pneumonia Nephrosis Show all 28
NEU2 sialidase 2 (cytosolic sialidase) 2q37.1 Galactosialidosis,  Stomach Cancer,  Lysinuric Protein Intolerance Influenza Show all 4
NEU3 sialidase 3 (membrane sialidase) 11q13.4 Galactosialidosis
NEU4 sialidase 4 2q37.3 Galactosialidosis
NEUROD1 neuronal differentiation 1 2q31.3 Maturity-Onset Diabetes Of The Young, Type 6,  Insulin Resistance,  Type 2 Diabetes Mellitus,  Diabetes Mellitus,  Diabetes Mellitus, Noninsulin-Dependent, 2,  Diabetes Mellitus, Noninsulin-Dependent, Late Onset,  Diabetes Mellitus, Type 2, Susceptiblity To,  Diabetes Mellitus, Noninsulin-Dependent, Association With,  Hypertension, Insulin Resistance-Related,  Diabetes Mellitus, Noninsulin-Dependent,  Monogenic Diabetes,  Maturity-Onset Diabetes Of The Young, Type 1 Type 1 Diabetes Mellitus Show all 13
NEUROD2 neuronal differentiation 2 17q12 Alcohol Dependence
NEUROG1 neurogenin 1 5q31.1 Moebius Syndrome Medulloblastoma
NEUROG2 neurogenin 2 4q25 Alcohol Dependence
NEUROG3 neurogenin 3 10q22.1 Congenital Malabsorptive Diarrhea 4 Diarrhea
NEXN nexilin (F actin binding protein) 1p31.1 Cardiomyopathy, Dilated, 1Cc,  Nexn-Related Dilated Cardiomyopathy,  Nexn-Related Familial Hypertrophic Cardiomyopathy,  Cardiomyopathy, Familial Hypertrophic, 20,  Dilated Cardiomyopathy,  Cardiomyopathy, Dilated, 1Ii Familial Hypertrophic Cardiomyopathy Show all 7
NF1 neurofibromin 1 17q11.2 Watson Syndrome,  Familial Spinal Neurofibromatosis,  Optic Pathway Glioma,  Neurofibromatosis-Noonan Syndrome,  Neurofibroma,  Juvenile Myelomonocytic Leukemia,  Neurofibromatosis,  17Q11 Microdeletion Syndrome,  17Q11.2 Microduplication Syndrome,  Legius Syndrome,  Plexiform Neurofibroma,  Pheochromocytoma,  Multiple Endocrine Neoplasia,  Spindle Cell Sarcoma,  Cellular Schwannoma,  Neurofibrosarcoma,  Noonan Syndrome,  Oculo-Auriculo-Vertebral Spectrum,  Ring Chromosome 22,  Dental Enamel Hypoplasia,  Tenosynovial Giant Cell Tumor,  Optic Nerve Glioma,  Osteofibrous Dysplasia,  Renovascular Hypertension,  Neurilemmoma,  Wdha Syndrome,  Cherubism,  Benign Schwannoma,  Ectropion,  Leopard Syndrome,  Giant Cell Tumor,  Meningocele,  Multiple Endocrine Neoplasia Type 2A,  Colorectal Cancer,  Learning Disability Pilocytic Astrocytoma Show all 36
NF1L1P neurofibromatosis type 1 pseudogene Neurofibromatosis
NF2 neurofibromin 2 (merlin) 22q12.2 Plexiform Schwannoma,  Neurofibromatosis Type 5,  Pediatric Meningioma,  Tanycytic Ependymoma,  Spinal Cord Ependymoma,  Neurilemmomatosis,  Chronic Angina,  Transitional Meningioma,  Cellular Schwannoma,  Acoustic Neuroma,  Benign Meningioma,  Anaplastic Ependymoma,  Neuroma,  Meningioma, Nf2-Related, Somatic,  Neurofibromatosis,  Plexiform Neurofibroma,  Facial Paralysis,  Neurofibrosarcoma,  Fibrous Meningioma,  Meningioma,  Ring Chromosome 22,  Sclerosing Perineurioma,  Neurofibroma,  Perineurioma,  Pten Hamartoma Tumor Syndrome,  Benign Mesothelioma,  Ependymoma,  Neurilemmoma,  Gastrointestinal Stromal Tumor,  Benign Schwannoma,  Spinal Meningioma,  Secretory Meningioma,  Schwannomatosis-1,  Colorectal Cancer Malaria Show all 35
NFASC neurofascin 1q32.1 Hyperkalemic Periodic Paralysis
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive 16q22.1 Cherubism
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 18q23 Enchondroma Cherubism
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 20q13.2 Enchondroma
NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 14q12 Dilated Cardiomyopathy
NFE2L2 nuclear factor, erythroid 2-like 2 2q31.2 Non-Small Cell Lung Carcinoma
NFE2L3 nuclear factor, erythroid 2-like 3 7p15.2 Fibrosarcoma
NFIA nuclear factor I/A 1p31.3 1P31P32 Microdeletion Syndrome Agenesis Of The Corpus Callosum
NFIB nuclear factor I/B 9p22.3 Lipoma Of Colon Polymorphous Low-Grade Adenocarcinoma
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 19p13.3 Common Wart
NFIL3 nuclear factor, interleukin 3 regulated 9q22.31 Autism Spectrum Disorder
NFIX nuclear factor I/X (CCAAT-binding transcription factor) 19p13.2 Marshall-Smith Syndrome,  Sotos Syndrome 2,  Common Wart,  Sotos Syndrome Sotos Syndrome 1 Show all 5
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 4q24 Limb-Girdle Muscular Dystrophy Type 2H,  Aneurysmal Bone Cysts,  Hepatitis D Primary Mediastinal Large B-Cell Lymphoma Show all 4
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 10q24.32 Immunodeficiency, Common Variable, 10,  B-Cell Lymphomas,  Immunodeficiency, Common Variable, 3,  Splenic Marginal Zone Lymphoma,  Immunodeficiency, Common Variable, 1 Legionellosis Show all 6
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 14q13.2 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency,  Ectodermal Dysplasia 10A, Hypohidrotic/hair/nail Type, Autosomal Dominant,  Giant Cell Glioblastoma,  Gliosarcoma,  Hypohidrotic Ectodermal Dysplasia With Immune Deficiency,  Autosomal Dominant Disease Ectodermal Dysplasia Show all 7
NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 6p21.33 Chronic Venous Leg Ulcers,  Chronic Thromboembolic Pulmonary Hypertension,  Rheumatoid Arthritis,  Juvenile Rheumatoid Arthritis,  Autoimmune Pancreatitis Rheumatoid Arthritis, Progression Of Show all 6
NFS1 NFS1 cysteine desulfurase 20q11.22 Combined Oxidative Phosphorylation Deficiency 19
NFU1 NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) 2p13.3 Multiple Mitochondrial Dysfunctions Syndrome 1,  Epilepsy With Generalized Tonic-Clonic Seizures,  Lafora Disease Genital Herpes Show all 4
NFXL1 nuclear transcription factor, X-box binding-like 1 4p12 Colon Cancer
NFYAP1 nuclear transcription factor Y, alpha pseudogene 1 13q21.31 Pulmonary Function
NGF nerve growth factor (beta polypeptide) 1p13.2 Neuroschistosomiasis,  Ependymoblastoma,  Autonomic Neuropathy,  Hereditary Sensory And Autonomic Neuropathy Type V,  Diabetic Autonomic Neuropathy,  Corneal Ulcer,  Cystitis,  Burning Mouth Syndrome,  Cannabis Abuse,  Rhinitis,  Allergic Rhinitis,  Anhidrosis,  Chronic Cystitis,  Congenital Insensitivity To Pain With Anhidrosis,  Cough Variant Asthma,  Diabetic Polyneuropathy,  Polyneuropathy,  Lead Poisoning,  Neuropathy,  Askins Tumor,  Keratoconjunctivitis,  Opiate Dependence,  Hemimegalencephaly,  Diabetic Neuropathy,  Pain Disorder,  Pheochromocytoma,  Keratoconjunctivitis Sicca,  Neuroblastoma,  Lesch-Nyhan Syndrome Corneal Disease Show all 30
NGFR nerve growth factor receptor 17q21.33 Prurigo Nodularis,  Noma,  Infiltrative Basal Cell Carcinoma,  Tetraploidy,  Malignant Peripheral Nerve Sheath Tumor,  Pediatric Ependymoma,  Epithelioid Malignant Peripheral Nerve Sheath Tumor,  Thymic Epithelial Tumor,  Medulloblastoma,  Pyloric Stenosis,  Distal Muscular Dystrophy,  Anhidrosis,  Hypertrophic Pyloric Stenosis,  Thymic Carcinoma,  Ependymoma,  Neuroblastoma,  Hirschsprungs Disease,  Limb Ischemia,  Mucosal Melanoma,  Adenomyosis Uveal Melanoma Show all 21
NGLY1 N-glycanase 1 3p24.2 Congenital Disorder Of Glycosylation, Type Iv
NGRN neugrin, neurite outgrowth associated 15q26.1 Neuroblastoma
NHEG1 neuroblastoma highly expressed 1 6q23.3 Neuroblastoma
NHEJ1 nonhomologous end-joining factor 1 2q35 Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation,  Dna Ligase Iv Deficiency,  Severe Combined Immunodeficiency Polymicrogyria With Seizures Show all 4
NHLH2 nescient helix loop helix 2 1p13.1 Egg Allergy
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 6p22.3 Neuroleptic Malignant Syndrome,  Nhlrc1-Related Lafora Disease,  Myoclonus,  Myoclonus Epilepsy,  Lafora Disease,  Progressive Myoclonus Epilepsy,  Progressive Myoclonus Epilepsy, Lafora Type,  Early-Onset Lafora Body Disease,  Congenital Generalized Lipodystrophy,  Epilepsy, Progressive Myoclonic 2A Epilepsy, Progressive Myoclonic 2B Show all 11
NHP2 NHP2 ribonucleoprotein 5q35.3 Dyskeratosis Congenita, Autosomal Recessive 2,  Nhp2-Related Dyskeratosis Congenita,  Dyskeratosis Congenita, Autosomal Recessive 1,  Dyskeratosis Congenita, Autosomal Recessive 4,  Dyskeratosis Congenita Autosomal Recessive,  Dyskeratosis Congenita Aplastic Anemia Show all 7
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) Xp22.13 Scleral Staphyloma,  Nance-Horan Syndrome,  Decubitus Ulcer,  Cataract 40, X-Linked,  Cataract, Congenital, With Microcornea Or Slight Microphthalmia,  Cataract 20, Multiple Types Cataract 4, Multiple Types Show all 7
NHSL1 NHS-like 1 6q24.1 Nance-Horan Syndrome
NICN1 nicolin 1 3p21.31 Glycine Encephalopathy
NID1 nidogen 1 1q42.3 Goodpasture Syndrome
NIDDM1 non-insulin-dependent diabetes mellitus (common, type 2) 1 2q Diabetes Mellitus, Noninsulin-Dependent 1
NIDDM2 non-insulin-dependent diabetes mellitus (common, type 2) 2 12q24.2 Diabetes Mellitus, Noninsulin-Dependent, 2
NIDDM3 Noninsulin-dependent diabetes mellitus 3 20q12-q13.1 Diabetes Mellitus Diabetes Mellitus, Noninsulin-Dependent
NIDDM4 Diabetes mellitus, noninsulin-dependent 5q34-q35.2 Diabetes Mellitus Diabetes Mellitus, Noninsulin-Dependent
NIF3L1 NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 2q33.1 Amyotrophic Lateral Sclerosis Lateral Sclerosis
NIN ninein (GSK3B interacting protein) 14q22.1 Seckel Syndrome 7,  Diabetic Cataract,  Primary Autosomal Recessive Microcephalies And Seckel Syndrome Spectrum Disorders Seckel Syndrome Show all 4
NINJ1 ninjurin 1 9q22.31 Spinal Cord Injury Acrocallosal Syndrome
NINJ2 ninjurin 2 12p13.33 Acrocallosal Syndrome
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 15q11.2 Spastic Paraplegia 6,  Spastic Paraplegia 6, Autosomal Dominant,  Angelman Syndrome,  Paraplegia,  Microdeletion 15Q11.2,  Autosomal Recessive Congenital Ichthyosis Hereditary Spastic Paraplegia Show all 7
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 15q11.2 Microdeletion 15Q11.2,  Angelman Syndrome,  Prader-Willi Syndrome Autosomal Recessive Congenital Ichthyosis Show all 4
NIPA2P1 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1 7q21.13 Angelman Syndrome
NIPA2P2 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2 3p12.3 Angelman Syndrome
NIPA2P3 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3 21q21.1 Angelman Syndrome
NIPA2P4 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4 8q21.13 Angelman Syndrome
NIPA2P5 non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5 13q31.1 Angelman Syndrome
NIPAL1 NIPA-like domain containing 1 4p12 Angelman Syndrome
NIPAL2 NIPA-like domain containing 2 8q22.2 Autosomal Recessive Congenital Ichthyosis
NIPAL4 NIPA-like domain containing 4 5q33.3 Ichthyosis, Congenital, Autosomal Recessive 6,  Nipal4-Related Autosomal Recessive Congenital Ichthyosis,  Autosomal Recessive Congenital Ichthyosis,  Ichthyosis, Congenital, Autosomal Recessive 2,  Ichthyosis, Congenital, Autosomal Recessive 4A Angelman Syndrome Show all 6
NIPBL Nipped-B homolog (Drosophila) 5p13.2 Limb Reduction Defect,  Cornelia De Lange Syndrome 1,  Nipbl-Related Cornelia De Lange Syndrome,  5P13 Microduplication Syndrome,  Cornelia De Lange Syndrome,  Roberts Syndrome,  Sc Phocomelia Syndrome Phocomelia Show all 8
NIPSNAP1 nipsnap homolog 1 (C. elegans) 22q12.2 Phenylketonuria
NISCH nischarin 3p21.1 Morphine Dependence Rosacea
NKAIN2 Na+/K+ transporting ATPase interacting 2 6q22.31 Genital Herpes
NKCD Natural killer cell deficiency, familial isolated Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect
NKX2-1 NK2 homeobox 1 14q13.3 Nkx2-1-Related Disorders,  Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia,  Bronchogenic Cyst,  Pulmonary Sclerosing Hemangioma,  Lentigo Maligna Melanoma,  Benign Hereditary Chorea,  Sclerosing Hemangioma,  Papillary Serous Adenocarcinoma,  Large Cell Neuroendocrine Carcinoma,  Pulmonary Large Cell Neuroendocrine Carcinoma,  Pulmonary Blastoma,  Dyskinetic Cerebral Palsy,  Sarcomatoid Mesothelioma,  Ovarian Mucinous Neoplasm,  Thyroid Cancer,  Neuroendocrine Cell Hyperplasia Of Infancy,  Goiter, Familial, Due To Ttf-1 Defect,  Brain Lung Thyroid Syndrome,  Hypothyroidism,  Blastoma,  Chorea,  Struma Ovarii,  Intestinal Perforation,  Large Cell Carcinoma,  Papillary Adenocarcinoma,  Pleomorphic Carcinoma,  Mucinous Cystadenocarcinoma,  Merkel Cell Carcinoma,  Malignant Mesothelioma,  Benign Mesothelioma,  Hemangioma,  Non-Small Cell Lung Carcinoma,  Thymic Carcinoma,  Adenomatoid Tumor,  Neuroendocrine Carcinoma,  Small Cell Neuroendocrine Carcinoma,  Papillary Carcinoma,  Small Cell Carcinoma,  Congenital Hypothyroidism,  Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia,  Ovarian Small Cell Carcinoma,  Pulmonary Neuroendocrine Tumor,  Follicular Thyroid Carcinoma,  Myoclonus-Dystonia,  Respiratory Failure,  Teratoma,  Papillary Thyroid Carcinoma,  Neuroendocrine Tumor,  Thymoma,  Goiter,  Congenital Diaphragmatic Hernia,  Lung Cancer,  Patent Foramen Ovale Lung Adenocarcinoma Show all 54
NKX2-2 NK2 homeobox 2 20p11.22 Gastrointestinal Neuroendocrine Tumor Neuroendocrine Tumor
NKX2-3 NK2 homeobox 3 10q24.2 Ulcerative Colitis,  Dental Caries Crohns Disease
NKX2-5 NK2 homeobox 5 5q35.1 Hypoplastic Left Heart Syndrome 2,  Ventricular Septal Defect 3,  Hypertrophic Pyloric Stenosis,  Tetrology Of Fallot,  Patent Foramen Ovale,  Atrial Septal Defect 7, With Or Without Av Conduction Defects,  Hypothyroidism, Congenital Nongoitrous, 5,  Conotruncal Heart Malformations, Variable,  Atrioventricular Block,  Hypoplastic Left Heart Syndrome,  Ebstein Anomaly,  Ventricular Septal Defect,  Pyloric Stenosis,  Atrial Heart Septal Defect,  Heart Septal Defect,  Atrial Fibrillation, Familial, 3,  Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia,  Atrioventricular Septal Defect,  Hypothyroidism,  Wolff-Parkinson-White Syndrome,  Asplenia, Isolated Congenital,  Tetralogy Of Fallot,  Syncope,  Transposition Of The Great Arteries,  Holt-Oram Syndrome,  Single Ventricular Septal Defect,  Double Outlet Right Ventricle,  Hypoplastic Left Heart Syndrome 1,  Congenital Hypothyroidism,  Heart Block, Progressive, Type Ia,  Conotruncal Heart Malformations Familial Atrial Fibrillation Show all 32
NKX2-6 NK2 homeobox 6 8p21.2 Persistent Truncus Arteriosus,  Conotruncal Heart Malformations,  Velocardiofacial Syndrome,  Conotruncal Heart Malformations, Variable Double Outlet Right Ventricle Show all 5
NKX3-1 NK3 homeobox 1 8p21.2 Chromosome 8P Deletion Prostate Cancer
NKX3-2 NK3 homeobox 2 4p15.33 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia,  Metaphyseal Dysplasia,  Skeletal Dysplasias Osteosarcoma Show all 4
NLGN3 neuroligin 3 Xq13.1 Asperger Syndrome,  Atypical Autism,  Autism Susceptibility, X-Linked 1,  Asperger Syndrome Susceptibility, X-Linked 1,  Autism Spectrum Disorder Pervasive Developmental Disorder Show all 6
NLGN4X neuroligin 4, X-linked Xp22.31 Autism Susceptibility, X-Linked 2,  Mental Retardation, X-Linked,  Nlgn4-Related X-Linked Mental Retardation,  Asperger Syndrome,  Autism Spectrum Disorder,  Pervasive Developmental Disorder,  Atypical Autism X-Linked Ichthyosis Show all 8
NLRC4 NLR family, CARD domain containing 4 2p22.3 Autoinflammation With Infantile Enterocolitis Legionnaires Disease
NLRC5 NLR family, CARD domain containing 5 16q13 Legionnaires Disease
NLRP1 NLR family, pyrin domain containing 1 17p13.2 Corneal Intraepithelial Dyskeratosis And Ectodermal Dysplasia,  Vitiligo,  Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1,  Autoimmune Disease 1,  Systemic Lupus Erythematosus,  Congenital Toxoplasmosis Toxoplasmosis Show all 7
NLRP11 NLR family, pyrin domain containing 11 19q13.43 Necrotizing Fasciitis
NLRP12 NLR family, pyrin domain containing 12 19q13.42 Familial Cold Autoinflammatory Syndrome 2,  Familial Cold Autoinflammatory Syndrome X-Linked Congenital Stationary Night Blindness
NLRP3 NLR family, pyrin domain containing 3 1q44 Familial Cold Autoinflammatory Syndrome 1,  Chronic Meningitis,  Mycobacterium Kansasii,  Muckle-Wells Syndrome,  Familial Cold Autoinflammatory Syndrome,  Cryopyrin-Associated Periodic Syndrome,  Wells Syndrome,  Chronic Infantile Neurological Cutaneous Articular Syndrome,  Cinca Syndrome With Nlrp3 Mutations,  Mycobacterium Abscessus,  Vulvovaginal Candidiasis,  Blau Syndrome,  Vulvar Vestibulitis Syndrome,  Neurohypophyseal Diabetes Insipidus,  Exanthem,  Familial Mediterranean Fever,  Psoriatic Juvenile Idiopathic Arthritis,  Pyoderma Urticaria Show all 19
NLRP5 NLR family, pyrin domain containing 5 19q13.43 Autoimmune Polyendocrine Syndrome Type 1
NLRP6 NLR family, pyrin domain containing 6 11p15.5 Colitis
NLRP7 NLR family, pyrin domain containing 7 19q13.42 Hydatidiform Mole, Recurrent,  Gestational Trophoblastic Neoplasm,  Partial Hydatidiform Mole,  Trophoblastic Neoplasm Triploidy Show all 5
NM neutrophil migration 7q22-qter Neutrophil Chemotactic Repsonse, Abnormal,  Sialuria Inclusion Body Myositis
NMB neuromedin B 15q25.3 Gastrinoma,  Late-Infantile Neuronal Ceroid Lipofuscinosis,  Lung Cancer Neuronal Ceroid Lipofuscinosis Show all 4
NMBR neuromedin B receptor 6q24.1 Lung Cancer
NME1 NME/NM23 nucleoside diphosphate kinase 1 17q21.33 Acute Monocytic Leukemia,  Laryngeal Carcinoma,  Neuroblastoma,  Soft Tissue Sarcoma,  Lung Giant Cell Carcinoma,  Skin Melanoma,  Alk-Related Neuroblastoma Susceptibility,  Malignant Hyperthermia Susceptibility,  Anal Canal Carcinoma,  Gallbladder Adenocarcinoma,  Neuroblastoma, Susceptibility,  Cervical Adenocarcinoma,  Keratoacanthoma,  Cervical Intraepithelial Neoplasia,  Peripheral T-Cell Lymphoma,  Acute Myeloid Leukemia,  Monocytic Leukemia,  Smooth Muscle Tumor,  Ovarian Serous Carcinoma,  Malignant Hyperthermia,  Uveal Melanoma,  Ovarian Cancer,  Laryngeal Squamous Cell Carcinoma,  Endometrial Carcinoma,  Follicular Thyroid Carcinoma,  Lung Cancer,  Papillary Adenocarcinoma,  Breast Cancer,  Cervical Cancer,  Colorectal Cancer,  Male Breast Cancer Adenocarcinoma Show all 32
NME2 NME/NM23 nucleoside diphosphate kinase 2 17q21.33 Acute Myeloid Leukemia
NME4 NME/NM23 nucleoside diphosphate kinase 4 16p13.3 Fatal Infantile Lactic Acidosis Cystic Fibrosis
NME8 NME/NM23 family member 8 7p14.1 Ciliary Dyskinesia, Primary, 6,  Primary Ciliary Dyskinesia 6: Nme8-Related Primary Ciliary Dyskinesia,  Ciliary Dyskinesia, Primary, 11 Primary Ciliary Dyskinesia Show all 4
NMLFS Nablus mask-like facial syndrome 8q22.1 Nablus Mask-Like Facial Syndrome
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 1p36.22 Leber Congenital Amaurosis 9,  Wallerian Degeneration,  Nmnat1-Related Leber Congenital Amaurosis,  Leber Congenital Amaurosis 10 Leber Congenital Amaurosis Show all 5
NMS neuromedin S 2q11.2 Vulvar Melanoma,  Acral Lentiginous Melanoma Nodular Malignant Melanoma
NMSR Neuropathy, hereditary motor and sensory, Russe type 10q23.2 Neuropathy, Motor And Sensory, Russe Type Neuropathy, Hereditary Motor And Sensory, Russe Type
NMTC1 Nonmedullary thyroid carcinoma 1 2q21 Thyroid Carcinoma, Nonmedullary, 1
NMUR1 neuromedin U receptor 1 2q37.1 Hypertension
NMUR2 neuromedin U receptor 2 5q33.1 Hypertension
NNMT nicotinamide N-methyltransferase 11q23.2 Homocysteine Plasma Level,  Parkinsons Disease,  Thyroid Cancer Kidney Cancer Show all 4
NNO1 nanophthalmos 1 11p13 Nanophthalmos-1
NNO3 nanophthalmos 3 2q11-q14 Nanophthalmos 3
NNT nicotinamide nucleotide transhydrogenase 5p12 Glucocorticoid Deficiency 4,  Glucocorticoid Deficiency, Due To Acth Unresponsiveness Familial Glucocorticoid Deficiency
NOB1 NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 16q22.1 Adenocarcinoma
NOBOX NOBOX oogenesis homeobox 7q35 Premature Ovarian Failure 5,  Premature Ovarian Failure Ovarian Cyst
NOD1 nucleotide-binding oligomerization domain containing 1 7p14.3 Blau Syndrome
NOD2 nucleotide-binding oligomerization domain containing 2 16q12.1 Granulomatous Mastitis,  Granulomatous Dermatitis,  Inflammatory Bowel Disease 1,  Pouchitis,  Gastroduodenal Crohns Disease,  Blau Syndrome,  Ileitis,  Crohns Disease,  Inflammatory Bowel Disease,  Crohns Colitis,  Psoriatic Arthritis,  Sapho Syndrome,  Guttate Psoriasis,  Spondylarthropathy,  Sarcoidosis,  Spondylitis,  Colonic Disease,  Behcets Disease,  Collagenous Colitis,  Mastitis,  Colitis,  Intestinal Obstruction,  Colorectal Cancer,  Pyoderma Gangrenosum,  Pyoderma,  Psoriatic Juvenile Idiopathic Arthritis,  Ocular Toxoplasmosis,  Toxoplasmosis,  Familial Mediterranean Fever Tuberculosis Show all 30
NODAL nodal growth differentiation factor 10q22.1 Heterotaxy, Visceral, 5,  Visceral Heterotaxy,  Situs Inversus,  Dextrocardia With Situs Inversus,  Heterotaxy,  Septopreoptic Holoprosencephaly,  Midline Interhemispheric Variant Of Holoprosencephaly,  Alobar Holoprosencephaly,  Lobar Holoprosencephaly,  Single Median Maxillary Central Incisor,  Semilobar Holoprosencephaly,  Nodal-Related Visceral Heterotaxy,  Nodal-Related Holoprosencephaly Liver Cancer Show all 14
NOG noggin 17q22 Tarsal-Carpal Coalition Syndrome,  Stapes Ankylosis With Broad Thumb And Toes,  Multiple Synostoses Syndrome 1,  Proximal Symphalangism,  Multiple Synostosis Syndrome 1,  Multiple Synostoses Syndrome,  Brachydactyly, Type B2,  Tracheoesophageal Fistula,  Esophageal Atresia,  Ankylosis,  Otosclerosis,  Brachydactyly Type B,  Fibrodysplasia Ossificans Progressiva,  Hyperopia,  Prostate Cancer,  Relapsing-Remitting Multiple Sclerosis Brachydactyly Show all 17
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain) 16q22.1 Myoclonus, Familial Cortical,  Pain Agnosia,  Agnosia Myoclonus Show all 4
NOLC1 nucleolar and coiled-body phosphoprotein 1 10q24.32 Hepatitis C Virus,  Hepatitis C Hepatitis
NONO non-POU domain containing, octamer-binding Xq13.1 Renal Cell Carcinoma, Papillary, 1,  Renal Cell Carcinoma Papillary Renal Cell Carcinoma
NONOP2 non-POU domain containing, octamer-binding pseudogene 2 2p16.1 Psoriatic Arthritis
NOP10 NOP10 ribonucleoprotein 15q14 Dyskeratosis Congenita, Autosomal Recessive 1,  Nop10-Related Dyskeratosis Congenita,  Dyskeratosis Congenita Autosomal Recessive,  Dyskeratosis Congenita, Autosomal Recessive 4,  Aplastic Anemia Dyskeratosis Congenita Show all 6
NOP16 NOP16 nucleolar protein 5q35.2 Breast Cancer
NOP56 NOP56 ribonucleoprotein 20p13 Spinocerebellar Ataxia Type 36
NOS1 nitric oxide synthase 1 (neuronal) 12q24.22 Factitious Disorder,  Pyloric Stenosis,  Hypertrophic Pyloric Stenosis,  Impotence,  Cerebral Hypoxia,  Intestinal Perforation,  Gastroschisis,  Acute Chest Syndrome,  Hyperphenylalaninemia,  Gastroparesis,  Brain Injury,  Sepiapterin Reductase Deficiency,  Atherosclerosis,  Childhood-Onset Schizophrenia,  Spermatogenic Failure 12,  Psychotic Disorder,  Schizophrenia,  Achalasia,  Tetrahydrobiopterin Deficiency,  Brain Ischemia,  Hirschsprungs Disease Neuroblastoma Show all 22
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 1q23.3 Long Qt Syndrome 1
NOS2 nitric oxide synthase 2, inducible 17q11.2 Virilizing Ovarian Tumor,  Borderline Leprosy,  Warthin Tumor,  Pityriasis Lichenoides,  Bladder Carcinoma In Situ,  Malaria,  Hypertension,  Collagenous Colitis,  Colitis,  Peyronies Disease,  Lip Cancer,  Hemorrhoid,  Internal Hemorrhoid,  Crohns Colitis,  Colonic Disease,  Myocarditis,  Idiopathic Achalasia,  Sleeping Sickness,  Periapical Granuloma,  Retinal Vasculitis,  Lymphocytic Colitis,  Microscopic Colitis,  Mycetoma,  Diabetic Angiopathy,  Endolymphatic Hydrops,  Krabbe Disease,  Gastrointestinal System Disease,  Gastritis,  Ischemia,  Priapism,  Myocardial Stunning,  Choledochal Cyst,  Mediterranean Spotted Fever Orthostatic Intolerance Show all 34
NOS3 nitric oxide synthase 3 (endothelial cell) 7q36.1 Placental Abruption,  Acute Chest Syndrome,  Hypertension,  Stroke, Ischemic,  Coronary Artery Spasm 1,  Alzheimer Disease Type 2,  Pre-Eclampsia,  Adiponectin Deficiency,  Chronic Myocardial Ischemia,  Polycystic Kidney Disease, Type 1,  Alzheimers Disease,  Ischemia,  Placenta Accreta,  Ischemic Optic Neuropathy,  Acute Mountain Sickness,  Central Sleep Apnea,  Anterior Ischemic Optic Neuropathy,  Primary Angle-Closure Glaucoma,  Arteritic Anterior Ischemic Optic Neuropathy,  Thromboangiitis Obliterans,  Hemifacial Spasm,  Non-Arteritic Anterior Ischemic Optic Neuropathy,  Carotid Artery Thrombosis,  Gitelman Syndrome,  Mitral Valve Disease,  Sleep Apnea,  Essential Hypertension,  Diabetic Macular Edema,  Gastroschisis,  Priapism,  Low Renin Hypertension,  Diastolic Heart Failure,  Tetrahydrobiopterin Deficiency,  Aortic Coarctation,  Type 2 Diabetes Mellitus,  Renal Artery Disease,  Orthostatic Intolerance Atherosclerosis Show all 38
NOTCH1 notch 1 9q34.3 Nerve Compression Syndrome,  Invasive Bladder Transitional Cell Carcinoma,  Bladder Transitional Cell Carcinoma,  Aortic Valve Disease 1,  Left Ventricular Outflow Tract Obstruction,  Adams-Oliver Syndrome 5,  Aortic Valve Disease,  Transitional Cell Carcinoma,  Esophagus Squamous Cell Carcinoma,  Plasmablastic Lymphoma,  Hypoplastic Left Heart Syndrome,  Superficial Basal Cell Carcinoma,  Ossifying Fibroma,  Acute Biphenotypic Leukemia,  Serotonin Syndrome,  Neuroendocrine Carcinoma,  Heterotaxy,  Nodular Regenerative Hyperplasia,  Acute Lymphoblastic Leukemia,  Spondylocostal Dysostosis,  Alagille Syndrome,  Cadasil,  Breast Cancer,  Adams-Oliver Syndrome 1,  Osteochondritis Dissecans Precursor T-Cell Acute Lymphoblastic Leukemia Show all 26
NOTCH2 notch 2 1p11.2 Serpentine Fibula Polycystic Kidney Syndrome,  Alagille Syndrome 2,  Hajdu-Cheney Syndrome,  Notch2-Related Alagille Syndrome,  Alagille Syndrome,  Nodular Regenerative Hyperplasia Splenic Marginal Zone Lymphoma Show all 7
NOTCH2NL notch 2 N-terminal like 1q21.1 Hajdu-Cheney Syndrome
NOTCH3 notch 3 19p13.12 Myofibromatosis, Infantile 2,  Cadasil,  Balo Concentric Sclerosis,  Cerebrovascular Disease,  Hemiplegic Migraine,  Ossifying Fibroma,  Migraine,  Familial Hemiplegic Migraine,  Pseudobulbar Palsy,  Myofibromatosis, Infantile, 1,  Migraine With Aura,  Vascular Dementia,  Varicose Veins,  Infantile Myofibromatosis Fibroma Show all 15
NOTCH4 notch 4 6p21.32 Salivary Gland Tumor,  Schizoaffective Disorder,  Schizophrenia,  Pseudobulbar Palsy Klippel-Trenaunay Syndrome Show all 5
NOTO notochord homeobox 2p13.2 Diphyllobothriasis Central Sleep Apnea
NOV nephroblastoma overexpressed 8q24.12 Nephroblastoma,  Alveolar Rhabdomyosarcoma Wilms Tumor
NOVA1 neuro-oncological ventral antigen 1 14q12 Lung Cancer,  Breast Cancer Paraneoplastic Neurologic Disorders
NOVA2 neuro-oncological ventral antigen 2 19q13.32 Paraneoplastic Neurologic Disorders
NOX1 NADPH oxidase 1 Xq22.1 Synucleinopathy
NOXA1 NADPH oxidase activator 1 9q34.3 Colon Cancer
NPAP1 nuclear pore associated protein 1 15q11.2 Prader-Willi Syndrome
NPAS2 neuronal PAS domain protein 2 2q11.2 Seasonal Affective Disorder
NPAS3 neuronal PAS domain protein 3 14q13.1 Schizophrenia Learning Disability
NPAT nuclear protein, ataxia-telangiectasia locus 11q22.3 Ataxia Telangiectasia Ataxia
NPB neuropeptide B 17q25.3 Colorectal Adenocarcinoma
NPC1 Niemann-Pick disease, type C1 18q11.2 Niemann-Pick Disease Type D,  Niemann-Pick Disease Type C1,  Niemann-Pick Disease Type C, Juvenile Neurologic Onset,  Niemann-Pick Disease Type C, Late Infantile Neurologic Onset,  Niemann-Pick Disease Type C, Severe Perinatal Form,  Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset,  Niemann-Pick Disease Type C, Adult Neurologic Onset,  Acid Sphingomyelinase Deficiency,  Picks Disease,  Niemann-Pick Disease,  Sandhoff Disease,  Mucolipidosis Ii,  Tangier Disease Nasopharyngeal Carcinoma 1 Show all 14
NPC1L1 NPC1-like 1 7p13 Picks Disease Niemann-Pick Disease
NPC2 Niemann-Pick disease, type C2 14q24.3 Niemann-Pick Disease Type C2,  Niemann-Pick Disease,  Picks Disease,  Glycine N-Methyltransferase Deficiency,  Niemann-Pick Disease Type C1,  Niemann-Pick Disease Type C, Juvenile Neurologic Onset,  Niemann-Pick Disease Type C, Late Infantile Neurologic Onset,  Niemann-Pick Disease Type C, Severe Perinatal Form,  Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset Niemann-Pick Disease Type C, Adult Neurologic Onset Show all 10
NPCA1 Nasopharyngeal carcinoma 1 4p15.1-q12 Nasopharyngeal Carcinoma 1
NPCA2 Nasopharyngeal carcinoma, susceptibility to, 2 6p21.3 Nasopharyngeal Carcinoma 2
NPFF neuropeptide FF-amide peptide precursor 12q13.13 Opioid Abuse,  Opiate Dependence Withdrawal Disorder
NPHP1 nephronophthisis 1 (juvenile) 2q13 Nephronophthisis 1,  Pontine Tegmental Cap Dysplasia,  Nephronophthisis,  Juvenile Nephronophthisis,  Senior-Loken Syndrome 1,  Nephronophthisis 1, Juvenile,  Joubert Syndrome With Renal Anomalies,  Nphp1-Related Joubert Syndrome,  Apraxia,  Eye Disease,  Nephronophthisis 4,  Senior-Loken Syndrome,  Joubert Syndrome And Related Disorders,  Cystic Kidney,  Familial Juvenile Hyperuricemic Nephropathy,  Doid:4019,  Cerebellar Ataxia Bardet-Biedl Syndrome 2 Show all 18
NPHP3 nephronophthisis 3 (adolescent) 3q22.1 Meckel Syndrome 7,  Nephronophthisis 3,  Renal-Hepatic-Pancreatic Dysplasia 1,  Renal-Hepatic-Pancreatic Dysplasia,  Late-Onset Nephronophthisis,  Nphp3-Related Meckel Syndrome,  Meckel Syndrome,  Encephalocele,  Nephronophthisis,  Cystic Kidney,  Senior-Loken Syndrome 1 Infantile Nephronophthisis Show all 12
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 3q22.1 Nephronophthisis 3 Renal-Hepatic-Pancreatic Dysplasia
NPHP4 nephronophthisis 4 1p36.31 Senior-Loken Syndrome 4,  Nephronophthisis 4,  Senior-Loken Syndrome,  Nephronophthisis,  Nephronophthisis 1, Juvenile,  Juvenile Nephronophthisis,  Senior-Loken Syndrome 1,  End Stage Renal Failure,  Retinitis Pigmentosa Familial Juvenile Hyperuricemic Nephropathy Show all 10
NPHS1 nephrosis 1, congenital, Finnish type (nephrin) 19q13.12 Multilocular Cystic Renal Cell Carcinoma,  Nephrosis,  Proteinuria,  Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Diffuse Mesangial Proliferation,  Nephrotic Syndrome, Type 1,  Congenital Nephrotic Syndrome Finnish Type,  Athetosis,  Diabetic Nephropathy,  Nephrotic Syndrome,  Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Minimal Changes,  Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis,  Denys-Drash Syndrome,  Steroid-Resistant Nephrotic Syndrome,  Membranous Glomerulonephritis,  Focal Segmental Glomerulosclerosis Glomerulosclerosis Show all 16
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin) 1q25.2 Discrete Subaortic Stenosis,  Steroid-Resistant Nephrotic Syndrome,  Nephrotic Syndrome,  Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome With Minimal Changes,  Nephrotic Syndrome, Type 2,  Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis,  Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Minimal Changes,  Nail-Patella Syndrome,  Nephrosis,  Denys-Drash Syndrome,  Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis,  Proteinuria,  Nephrotic Syndrome Type 3,  Ichthyosis Vulgaris,  Focal Segmental Glomerulosclerosis Glomerulosclerosis Show all 16
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin) 5q35.1 Myeloid Leukemia, Acute, M4/m4Eo Subtype, Somatic,  Npm1-Related Acute Myeloid Leukemia,  Acute Myeloid Leukemia With Npm1 Somatic Mutations,  Acute Myeloblastic Leukemia With Maturation,  Leukemia, Acute Promyelocytic, Npm/rara Type,  Acute Myeloblastic Leukemia Without Maturation,  Acute Myeloid Leukemia,  Acute Promyelocytic Leukemia,  Leukemia, Acute Myeloid, Reduced Survival In,  Acute Myelomonocytic Leukemia,  Leukemia, Acute Myeloid, Somatic,  Myeloid Leukemia,  Anaplastic Large Cell Lymphoma,  Myeloid Sarcoma,  Reticulosarcoma,  Blastic Plasmacytoid Dendritic Cell,  Shwachman-Diamond Syndrome,  Acute Myeloid Leukemia, Adult Myelodysplastic Syndromes Show all 19
NPPA natriuretic peptide A 1p36.22 Atrial Fibrillation, Familial, 6,  Cirrhotic Cardiomyopathy,  Univentricular Heart,  Mitral Valve Disease,  Acute Myocardial Infarction,  Atrial Standstill 2,  Atrial Fibrillation, Familial, 3,  Syndrome Of Inappropriate Antidiuretic Hormone,  Dumping Syndrome,  Hepatorenal Syndrome,  Central Sleep Apnea,  Renovascular Hypertension,  Sick Sinus Syndrome,  Acute Kidney Failure,  Essential Hypertension,  Nephropathia Epidemica,  Idiopathic Edema,  Sleep Apnea,  Tuberculous Meningitis,  Atrial Standstill, Digenic,  Myocardial Infarction,  Pandas,  Gastroschisis,  Postural Hypotension,  Congestive Heart Failure,  Collagen Disease,  Twin-To-Twin Transfusion Syndrome,  Endocardial Fibroelastosis,  Renal Artery Disease,  Acute Poststreptococcal Glomerulonephritis,  Cor Pulmonale,  Diastolic Heart Failure,  Pituitary Apoplexy,  Leptin Deficiency,  Olivopontocerebellar Atrophy,  Hypoaldosteronism,  Familial Atrial Fibrillation,  Primary Pulmonary Hypertension,  Inappropriate Adh Syndrome,  Adrenocortical Insufficiency,  Myxedema,  Dilated Cardiomyopathy,  Hypertension,  Pulmonary Hypertension Obstructive Sleep Apnea Show all 45
NPPB natriuretic peptide B 1p36.22 Acute Cor Pulmonale,  Inferior Myocardial Infarction,  Cor Pulmonale,  Constrictive Pericarditis,  Systolic Heart Failure,  Central Sleep Apnea,  Pulmonary Edema,  Third-Degree Atrioventricular Block,  Diastolic Heart Failure,  Chagas Disease,  Pulmonary Embolism,  Pericardial Effusion,  Acute Myocardial Infarction,  Al Amyloidosis,  Cirrhotic Cardiomyopathy,  Syndrome Of Inappropriate Antidiuretic Hormone,  Univentricular Heart,  Vici Syndrome,  Stress Cardiomyopathy,  Atrioventricular Block,  Hypertensive Heart Disease,  Congestive Heart Failure,  Osteoporosis,  Myocardial Infarction,  Sleep Apnea,  Aortic Valve Disease,  Euthyroid Sick Syndrome,  Dilated Cardiomyopathy,  Primary Pulmonary Hypertension,  Renovascular Hypertension,  Cardiac Sarcoidosis,  Pericarditis,  Cardiogenic Shock,  Protein-Losing Enteropathy,  Kawasaki Disease,  Tetralogy Of Fallot,  Sick Sinus Syndrome,  Cardiac Rupture,  Pulmonary Hypertension,  Oligohydramnios,  Essential Hypertension,  Malignant Hypertension,  Endocardial Fibroelastosis,  Restrictive Cardiomyopathy,  Chronic Thromboembolic Pulmonary Hypertension,  Leptin Deficiency,  Ischemic Heart Disease,  Polyhydramnios,  Transthyretin Amyloidosis,  Neuroleptic Malignant Syndrome,  Cardiac Tamponade Hypertension Show all 52
NPPC natriuretic peptide C 2q37.1 Aortic Valve Stenosis,  Colon Adenocarcinoma,  Intracranial Hypertension,  Skeletal Dysplasias,  Cor Pulmonale,  Acromesomelic Dysplasia,  Breast Adenocarcinoma,  Plasmodium Falciparum Malaria,  Eating Disorder,  Phaeochromocytoma,  Malaria,  Achondroplasia,  Cystic Fibrosis Pheochromocytoma Show all 14
NPR1 natriuretic peptide receptor 1 1q21.3 Hypertensive Heart Disease,  Breast Adenocarcinoma,  Colon Adenocarcinoma,  Essential Hypertension Aortic Valve Stenosis Show all 5
NPR2 natriuretic peptide receptor 2 9p13.3 Acromesomelic Dysplasia, Maroteaux Type,  Acromesomelic Dysplasia,  Epiphyseal Chondrodysplasia, Miura Type,  Renovascular Hypertension,  Aortic Valve Stenosis,  Short Stature Essential Hypertension Show all 7
NPR3 natriuretic peptide receptor 3 5p13.3 Hypertension, Salt-Resistant,  Pulmonary Hypertension Hypertension
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae) 16p13.3 Secondary Hypertrophic Osteoarthropathy Myoblastoma
NPSR1 neuropeptide S receptor 1 7p14.3 Asthma 2 Asthma
NPSR1-AS1 NPSR1 antisense RNA 1 7p14.3 Asthma
NPTN neuroplastin 15q24.1 Allergic Bronchopulmonary Aspergillosis
NPTX1 neuronal pentraxin I 17q25.3 Prostate Cancer Wallerian Degeneration
NPTX2 neuronal pentraxin II 7q22.1 Visual Pathway Disease,  Parkinsons Disease,  Narcolepsy,  Neurohypophyseal Diabetes Insipidus,  Autism Spectrum Disorder,  Pearson Syndrome,  Kearns-Sayre Syndrome Leigh Disease Show all 8
NPVF neuropeptide VF precursor 7p15.3 Cystoid Macular Dystrophy
NPW neuropeptide W 16p13.3 Colorectal Adenocarcinoma
NPY neuropeptide Y 7p15.3 Stress Cardiomyopathy,  Reflex Sympathetic Dystrophy,  Normal Pressure Hydrocephalus,  X-Linked Dystonia-Parkinsonism,  Subependymal Giant Cell Astrocytoma,  Tendinosis,  Anorexia Nervosa,  Neuroepithelioma,  Social Phobia,  Obesity,  Post-Traumatic Stress Disorder,  Fibromyalgia,  Carcinoid Syndrome,  Status Epilepticus,  Generalized Anxiety Disorder,  Hepatorenal Syndrome,  Neuroblastoma,  Neural Crest Tumor,  Ganglioneuroblastoma,  Bulimia Nervosa,  Seasonal Affective Disorder,  Essential Hypertension Schizophrenia Show all 23
NPY1R neuropeptide Y receptor Y1 4q32.2 Proliferative Vitreoretinopathy,  Angina Pectoris,  Morbid Obesity Obesity Show all 4
NPY5R neuropeptide Y receptor Y5 4q32.2 Papillon-Lefevre Disease,  Morbid Obesity Obesity
NQO1 NAD(P)H dehydrogenase, quinone 1 16q22.1 Benzene Toxicity,  Leukemia, Post-Chemotherapy,  Breast Cancer, Poor Survival After Chemotherapy For,  Tardive Dyskinesia,  Colon Adenocarcinoma,  Atrophy Of Testis,  Lung Cancer,  Anal Canal Carcinoma,  Breast Adenocarcinoma,  Parkinsons Disease,  Colon Cancer Breast Cancer Show all 12
NQO2 NAD(P)H dehydrogenase, quinone 2 6p25.2 Breast Cancer Susceptibility,  Brca1 And Brca2 Hereditary Breast And Ovarian Cancer,  Alcoholic Pancreatitis,  Brca2 Hereditary Breast And Ovarian Cancer,  Ovarian Cancer,  Hepatoblastoma,  Parkinsons Disease Schizophrenia Show all 8
NR0B1 nuclear receptor subfamily 0, group B, member 1 Xp21.2 Complex Glycerol Kinase Deficiency,  X-Linked Adrenal Hypoplasia Congenita,  Dosage-Sensitive Sex Reversal,  Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism,  46Xy Sex Reversal 2, Dosage-Sensitive,  Isolated X-Linked Adrenal Hypoplasia Congenita,  Nr0B1-Related 46,xy Dsd And 46,xy Cgd,  Trophoblastic Neoplasm,  Lipoid Adrenal Hyperplasia,  Familial Glucocorticoid Deficiency,  Botulism,  Gestational Trophoblastic Neoplasm,  Hypogonadism,  Metaphyseal Dysplasia,  Hemiplegia,  46Xy Sex Reversal 7,  46,xy Disorder Of Sex Development And 46,xy Complete Gonadal Dysgenesis,  Adrenocortical Carcinoma,  Developmental Disabilities Gonadal Dysgenesis Show all 20
NR0B2 nuclear receptor subfamily 0, group B, member 2 1p36.11 Obesity, Mild, Early-Onset,  Dosage-Sensitive Sex Reversal,  Hepatopulmonary Syndrome,  Obesity Liver Cancer Show all 5
NR1H2 nuclear receptor subfamily 1, group H, member 2 19q13.33 Seborrheic Keratosis,  Complete Androgen Insensitivity Syndrome,  Biliary Tract Disease,  Dosage-Sensitive Sex Reversal,  Atherosclerosis,  Thyroid Hormone Resistance Syndrome,  Cerebrotendinous Xanthomatosis,  Acth-Secreting Pituitary Adenoma,  Androgen Insensitivity Syndrome,  Prostate Cancer Breast Cancer Show all 11
NR1H3 nuclear receptor subfamily 1, group H, member 3 11p11.2 Acth-Secreting Pituitary Adenoma,  Atherosclerosis Myxoid Liposarcoma
NR1H4 nuclear receptor subfamily 1, group H, member 4 12q23.1 Atp8B1 Deficiency,  Xanthomatosis,  Biliary Tract Disease,  Intrahepatic Cholestasis Of Pregnancy,  Fragile X Syndrome,  Cerebrotendinous Xanthomatosis,  Atherosclerosis,  Cholestasis, Intrahepatic, Of Pregnancy, 1,  Intrahepatic Cholestasis Cholestasis Show all 10
NR1I2 nuclear receptor subfamily 1, group I, member 2 3q13.33 Biliary Tract Disease,  Acute Porphyria,  Cholangitis Intrahepatic Cholestasis Of Pregnancy Show all 4
NR1I3 nuclear receptor subfamily 1, group I, member 3 1q23.3 Biliary Tract Disease,  Acute Porphyria,  Humoral Hypercalcemia Of Malignancy,  Primary Hyperparathyroidism,  Familial Hypocalciuric Hypercalcemia,  Uremia,  Hyperparathyroidism,  Hypercalcemia,  Intrahepatic Cholestasis Of Pregnancy Cholestasis Show all 10
NR2C2AP nuclear receptor 2C2-associated protein 19p13.11 Non-Small Cell Lung Carcinoma
NR2E1 nuclear receptor subfamily 2, group E, member 1 6q21 Lymphoid Leukemia
NR2E3 nuclear receptor subfamily 2, group E, member 3 15q23 Retinitis Pigmentosa 37,  Goldmann-Favre Syndrome,  Accommodative Esotropia,  Esotropia,  Nr2E3-Related Retinitis Pigmentosa,  Retinitis Pigmentosa Achromatopsia Show all 7
NR2F1 nuclear receptor subfamily 2, group F, member 1 5q15 Bosch-Boonstra-Schaaf Optic Atrophy Syndrome,  Ovarian Epithelial Cancer,  Transitional Cell Carcinoma Bladder Transitional Cell Carcinoma Show all 4
NR2F2 nuclear receptor subfamily 2, group F, member 2 15q26.2 Ring Chromosome 15,  Complete Atrioventricular Canal,  Congenital Heart Defects, Multiple Types, 4,  Partial Atrioventricular Canal,  Endometriosis,  Glucocorticoid Resistance Congenital Diaphragmatic Hernia Show all 7
NR2F6 nuclear receptor subfamily 2, group F, member 6 19p13.11 Chronic Purulent Otitis Media
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 5q31.3 Primary Cortisol Resistance,  Glucocorticoid Resistance,  Osteochondrosis,  Ocular Hypertension,  Corticosteroid-Binding Globulin Deficiency,  Post-Traumatic Stress Disorder,  Nelson Syndrome,  In Situ Carcinoma,  Pre-B-Cell Acute Lymphoblastic Leukemia,  Treacher Collins Syndrome,  Acth-Secreting Pituitary Adenoma,  Glucocorticoid-Remediable Aldosteronism,  Metabolic Syndrome X,  Primary Pigmented Nodular Adrenocortical Disease,  Dosage-Sensitive Sex Reversal,  Chronic Fatigue Syndrome,  Obesity,  Breast Cancer Acute Lymphoblastic Leukemia Show all 19
NR3C2 nuclear receptor subfamily 3, group C, member 2 4q31.23 Autosomal Dominant Pseudohypoaldosteronism Type 1,  Hypertension, Early-Onset, Autosomal Dominant, With Exacerbation In Pregnancy,  Hypertension,  Apparent Mineralocorticoid Excess Syndrome,  Pseudohypoaldosteronism,  Pseudohypoaldosteronism Type 1,  Nephrosclerosis,  Anuria,  Glucocorticoid-Remediable Aldosteronism Conns Syndrome Show all 10
NR4A1 nuclear receptor subfamily 4, group A, member 1 12q13.13 Staphyloenterotoxemia Impetigo
NR4A2 nuclear receptor subfamily 4, group A, member 2 2q24.1 Parkinsons Disease,  Lrrk2-Related Parkinson Disease,  Rheumatoid Arthritis,  Schizophrenia Arthritis Show all 5
NR4A3 nuclear receptor subfamily 4, group A, member 3 9q22.33 Extraskeletal Myxoid Chondrosarcoma Chondrosarcoma
NR5A1 nuclear receptor subfamily 5, group A, member 1 9q33.3 Adrenocortical Insufficiency, Without Ovarian Defect,  46Xy Sex Reversal 3,  Premature Ovarian Failure 7,  Spermatogenic Failure 8,  Adrenocortical Insufficiency,  Nr5A1-Related 46,xy Dsd And 46,xy Cgd,  Dosage-Sensitive Sex Reversal,  Denys-Drash Syndrome,  Partial Androgen Insensitivity Syndrome,  Adrenal Rest Tumor,  46Xy Sex Reversal 2, Dosage-Sensitive,  Anorchia,  Acute Adrenal Insufficiency,  Endometriosis,  Adrenocortical Carcinoma,  Gonadal Dysgenesis,  46Xy Sex Reversal 7,  Cryptorchidism,  46,xy Disorder Of Sex Development And 46,xy Complete Gonadal Dysgenesis,  Spermatogenic Failure,  Leydig Cell Tumor,  Ovarian Dysgenesis 1 Premature Ovarian Failure Show all 23
NR5A2 nuclear receptor subfamily 5, group A, member 2 1q32.1 Hepatitis B Dental Caries
NRARP NOTCH-regulated ankyrin repeat protein 9q34.3 Inflammatory Breast Carcinoma
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 1p13.2 Noonan Syndrome 6,  Neurocutaneous Melanosis,  Nras-Related Noonan Syndrome,  Ras-Associated Autoimmune Leukoproliferative Disease,  Melanocytic Nevus Syndrome, Congenital, Somatic,  Autoimmune Lymphoproliferative Syndrome Type Iv,  Neurocutaneous Melanosis, Somatic,  Acral Lentiginous Melanoma,  Thyroid Cancer,  Bone Marrow Cancer,  Follicular Thyroid Carcinoma,  Noonan Syndrome,  Juvenile Myelomonocytic Leukemia,  Epidermal Nevus, Somatic,  Thyroid Carcinoma, Follicular, Somatic,  Autoimmune Lymphoproliferative Syndrome, Type Ib,  Colorectal Cancer, Somatic,  Exanthem,  Myelodysplastic Syndromes,  Noonan Syndrome 1,  Acute Myeloid Leukemia,  Mucosal Melanoma,  Autoimmune Lymphoproliferative Syndrome,  Thymic Epithelial Tumor,  Neuroblastoma,  Chronic Myelomonocytic Leukemia,  Familial Melanoma,  Colorectal Cancer Nevus Sebaceous, Somatic Show all 29
NRBP2 nuclear receptor binding protein 2 8q24.3 Medulloblastoma
NRCLP2 Narcolepsy, HLA-associated 4p13-q21 Narcolepsy 2 Narcolepsy
NRCLP3 Narcolepsy 3 21q11.2 Narcolepsy 3 Narcolepsy
NRCLP4 Narcolepsy 4 22q13 Narcolepsy 4 Narcolepsy
NRCLP5 Narcolepsy 5 14q11.2 Narcolepsy 5 Narcolepsy
NRCLP6 Narcolepsy 6 19p13.2 Narcolepsy 6 Narcolepsy
NRF1 nuclear respiratory factor 1 7q32.2 Skin Carcinoma In Situ
NRG1 neuregulin 1 8p12 Schizophrenia,  Bipolar Disorder,  Cannabis Dependence,  Schizophreniform Disorder,  Breast Cancer Childhood-Onset Schizophrenia Show all 6
NRG3 neuregulin 3 10q23.1 Schizoaffective Disorder Schizophrenia
NRGN neurogranin (protein kinase C substrate, RC3) 11q24.2 Jacobsen Syndrome,  Paraneoplastic Cerebellar Degeneration,  Cerebellar Degeneration,  Hypothyroidism Schizophrenia Show all 5
NRIP1 nuclear receptor interacting protein 1 21q21.1 Granuloma Inguinale
NRIP3 nuclear receptor interacting protein 3 11p15.4 Sarcoma
NRK Nik related kinase Xq22.3 Hypermobility Syndrome
NRL neural retina leucine zipper 14q11.2 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type,  Retinitis Pigmentosa 27,  Nrl-Related Retinitis Pigmentosa,  Retinitis Pigmentosa,  Goldmann-Favre Syndrome Retinal Disease Show all 6
NRN1 neuritin 1 6p25.1 Astrocytoma
NRP1 neuropilin 1 10p11.22 Acute Hemorrhagic Leukoencephalitis,  Retinal Vascular Disease,  Chorioangioma Multiple Endocrine Neoplasia Type 2A Show all 4
NRP2 neuropilin 2 2q33.3 Wallerian Degeneration Infantile Epileptic Encephalopathy
NRTN neurturin 19p13.3 Nrtn-Related Hirschsprung Disease,  Nephroblastoma,  Constipation,  Hirschsprungs Disease,  Megacolon,  Keratoconjunctivitis Sicca,  Parkinsons Disease Huntingtons Disease Show all 8
NRXN1 neurexin 1 2p16.3 Pitt-Hopkins-Like Syndrome,  Pitt-Hopkins-Like Syndrome 2,  Schizophrenia 17,  Pitt-Hopkins Syndrome,  Schizophrenia Cortical Dysplasia-Focal Epilepsy Syndrome Show all 6
NRXN2 neurexin 2 11q13.1 Spinal Cancer Pancreatic Gastrinoma
NRXN3 neurexin 3 14q24.3 Autism Spectrum Disorder Alcohol Dependence
NS2 Noonan syndrome 2 Noonan Syndrome 2 Noonan Syndrome
NSA2 NSA2 ribosome biogenesis homolog (S. cerevisiae) 5q13.3 Diabetic Nephropathy,  Hairy Cell Leukemia Leukemia
NSD1 nuclear receptor binding SET domain protein 1 5q35.2 Lipedema,  Sotos Syndrome 1,  Sotos Syndrome,  5Q35 Microduplication Syndrome,  Weaver Syndrome 1,  Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation,  Abdominal Wall Defect,  Beckwith-Wiedemann Syndrome,  Acute Myeloid Leukemia,  Nevo Syndrome,  Weaver Syndrome,  Alpha-Thalassemia/mental Retardation Syndrome,  Macroglossia Myeloid Leukemia Show all 14
NSDHL NAD(P) dependent steroid dehydrogenase-like Xq28 Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects,  Nsdhl-Related Disorders,  Verruciform Xanthoma Of Skin,  Child Syndrome,  Chikungunya,  Childrens Interstitial Lung Disease Smith-Lemli-Opitz Syndrome Show all 7
NSF N-ethylmaleimide-sensitive factor 17q21.31 Neuronal Intranuclear Inclusion Disease Botulism
NSMAF neutral sphingomyelinase (N-SMase) activation associated factor 8q12.1 8P11 Myeloproliferative Syndrome
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor 9q34.3 Hypogonadotropic Hypogonadism 9 With Or Without Anosmia Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
NSUN2 NOP2/Sun RNA methyltransferase family, member 2 5p15.31 Dirofilariasis,  Mental Retardation, Autosomal Recessive 5,  Dubowitz Syndrome Mental Retardation, Autosomal Recessive 2 Show all 4
NSUN5 NOP2/Sun domain family, member 5 7q11.23 Williams-Beuren Syndrome Supravalvular Aortic Stenosis
NSUN5P1 NOP2/Sun domain family, member 5 pseudogene 1 7q11.23 Williams-Beuren Syndrome
NSUN5P2 NOP2/Sun domain family, member 5 pseudogene 2 7q11.23 Williams-Beuren Syndrome
NSX N syndrome (mental retardation, malformations, chromosome breakage) Xp22.3-p21.1 N Syndrome
NT5C 5', 3'-nucleotidase, cytosolic 17q25.1 Norwegian Scabies,  Scabies Acute Myeloid Leukemia
NT5C1B 5'-nucleotidase, cytosolic IB 2p24.2 Infertility
NT5C2 5'-nucleotidase, cytosolic II 10q24.33 Spastic Paraplegia 45,  Orbital Cellulitis,  Sphenoid Sinusitis Cellulitis Show all 4
NT5C3A 5'-nucleotidase, cytosolic IIIA 7p14.3 Anemia, Hemolytic, Due To Umph1 Deficiency
NT5E 5'-nucleotidase, ecto (CD73) 6q14.3 Calcification Of Joints And Arteries Intestinal Tuberculosis
NT5M 5',3'-nucleotidase, mitochondrial 17p11.2 Dentin Sensitivity
NTAN1 N-terminal asparagine amidase 16p13.11 Secondary Progressive Multiple Sclerosis
NTF3 neurotrophin 3 12p13.31 Viral Meningitis,  Diabetic Polyneuropathy,  Diabetic Autonomic Neuropathy,  Hypochondriasis,  Ganglioneuroma,  Dry Eye Syndrome,  Neuroaxonal Dystrophy,  Diabetic Neuropathy,  Charcot-Marie-Tooth Disease Type 1A,  Demyelinating Disease,  Charcot-Marie-Tooth Disease Type 1,  Schizophrenia Meningitis Show all 13
NTF4 neurotrophin 4 19q13.33 Head Injury,  Glaucoma 1, Open Angle, 1O,  Primary Angle-Closure Glaucoma,  Proliferative Vitreoretinopathy,  Relapsing-Remitting Multiple Sclerosis,  Tuberous Sclerosis Complex,  Asperger Syndrome,  Open-Angle Glaucoma Eating Disorder Show all 9
NTHL1 nth endonuclease III-like 1 (E. coli) 16p13.3 Primary Sclerosing Cholangitis,  Sclerosing Cholangitis Mitochondrial Disorders
NTM neurotrimin 11q25 Juvenile Pilocytic Astrocytoma
NTN3 netrin 3 16p13.3 Tuberous Sclerosis, Type 2,  Mantle Cell Lymphoma Polycystic Kidney Disease, Type 1
NTNG1 netrin G1 1p13.3 Atypical Rett Syndrome Epileptic Encephalopathy, Early Infantile, 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1q23.1 Congenital Insensitivity To Pain With Anhidrosis,  Anhidrosis,  Familial Medullary Thyroid Carcinoma,  Ntrk1-Related Familial Medullary Thyroid Carcinoma,  Thyroid Medullary Carcinoma,  Adrenal Neuroblastoma,  Hereditary Sensory And Autonomic Neuropathy Type V,  Askins Tumor,  Chagas Disease,  Relapsing Fever,  Follicular Thyroid Carcinoma,  Autonomic Neuropathy,  Dysautonomia,  Pyruvate Kinase Deficiency,  Neuroblastoma,  Granular Cell Tumor,  Thyroid Cancer Pancreatic Cancer Show all 18
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 9q21.33 Obesity, Hyperphagia, And Developmental Delay,  Pilocytic Astrocytoma,  Obesity Neuroblastoma Show all 4
NTRK3 neurotrophic tyrosine kinase, receptor, type 3 15q25.3 Congenital Fibrosarcoma,  Fibrosarcoma,  Congenital Mesoblastic Nephroma,  Medulloblastoma,  Mesoblastic Nephroma,  Polymorphous Low-Grade Adenocarcinoma,  Gastrointestinal Stromal Tumor Medulloblastoma, Desmoplastic Show all 8
NTS neurotensin 12q21.31 Duodenogastric Reflux,  Dumping Syndrome,  Thyroid Medullary Carcinoma,  Pancreatic Islet Cell Tumors,  Vipoma,  Carcinoid Syndrome,  Pancreatic Cancer,  Zollinger-Ellison Syndrome,  Hypochondriasis,  Short Bowel Syndrome,  Gastroesophageal Reflux Disease,  Schizophrenia,  Parkinsons Disease,  Sudden Infant Death Syndrome Prostate Cancer Show all 15
NTSR1 neurotensin receptor 1 (high affinity) 20q13.33 Hyperglycemia
NTSR2 neurotensin receptor 2 2p25.1 Alcohol Dependence
NUAK1 NUAK family, SNF1-like kinase, 1 12q23.3 Omphalocele
NUB1 negative regulator of ubiquitin-like proteins 1 7q36.1 Synucleinopathy,  Multiple System Atrophy,  Dementia Leber Congenital Amaurosis Show all 4
NUBPL nucleotide binding protein-like 14q12 Mitochondrial Complex I Deficiency
NUCB2 nucleobindin 2 11p15.1 Gastric Cancer,  Seizure Disorder Type 2 Diabetes Mellitus
NUDT1 nudix (nucleoside diphosphate linked moiety X)-type motif 1 7p22.3 Attenuated Familial Adenomatous Polyposis,  Familial Adenomatous Polyposis,  Primary Sclerosing Cholangitis,  Parkinsons Disease,  Sclerosing Cholangitis Type 1 Diabetes Mellitus Show all 6
NUDT2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 9p13.3 Cartilage-Hair Hypoplasia
NUDT6 nudix (nucleoside diphosphate linked moiety X)-type motif 6 4q28.1 Gingival Overgrowth,  Exfoliation Syndrome,  Gastric Ulcer,  Moyamoya Disease,  Bone Fracture,  Bladder Carcinoma,  Malignant Glioma,  Head Injury Diabetic Neuropathy Show all 9
NUFIP1 nuclear fragile X mental retardation protein interacting protein 1 13q14.12 Mental Retardation
NUMA1 nuclear mitotic apparatus protein 1 11q13.4 Leukemia, Acute Promyelocytic, Numa/rara Type Acute Promyelocytic Leukemia
NUMB numb homolog (Drosophila) 14q24.3 Lip Disease Tactile Agnosia
NUP107 nucleoporin 107kDa 12q15 Mesenchymal Chondrosarcoma
NUP155 nucleoporin 155kDa 5p13.2 Atrial Fibrillation 15 Atrial Fibrillation, Familial, 3
NUP214 nucleoporin 214kDa 9q34.13 Acute Myeloid Leukemia With T(6;9)(P23;q34),  Acute Myeloid Leukemia,  Acute T Cell Leukemia Myeloid Leukemia Show all 4
NUP50P3 nucleoporin 50 pseudogene 3 5p14.3 Pulmonary Function
NUP62 nucleoporin 62kDa 19q13.33 Striatonigral Degeneration,  Striatonigral Degeneration Infantile Parotid Gland Cancer
NUP98 nucleoporin 98kDa 11p15.4 Breast Cancer,  Wilms Tumor,  Acute Myeloid Leukemia Acute Lymphocytic Leukemia Show all 4
NUS1P2 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2 13q12.12 Cannabis Dependence
NXF1 nuclear RNA export factor 1 11q12.3 Branchiootorenal Syndrome Genital Herpes
NXF3 nuclear RNA export factor 3 Xq22.1 Pelizaeus-Merzbacher Disease
NXN nucleoredoxin 17p13.3 Vulvitis Polycystic Liver Disease
NXNL1 nucleoredoxin-like 1 19p13.11 Retinitis Pigmentosa
NXPH4 neurexophilin 4 12q13.3 Otitis Externa
NYS2 nystagmus 2, congenital autosomal dominant 6p12 Spasmus Nutans,  Nystagmus 2, Congenital, Autosomal Dominant Congenital Nystagmus
NYS3 nystagmus 3, congenital autosomal dominant 7p11 Nystagmus 3, Congenital, Autosomal Dominant Congenital Nystagmus
NYS4 nystagmus 4, congenital autosomal dominant 13q31-q33 Nystagmus 4, Congenital, Autosomal Dominant
NYS5 Nystagmus 5, infantile periodic alternating Nystagmus 5, Congenital, X-Linked
NYS7 Nystagmus 7, congenital 1q31-q32.2 Nystagmus 7, Congenital, Autosomal Dominant
NYX nyctalopin Xp11.4 X-Linked Congenital Stationary Night Blindness,  Irregular Astigmatism,  Hyperopia,  Nyx-Related X-Linked Congenital Stationary Night Blindness,  Night Blindness, Congenital Stationary , 1A, X-Linked,  Night Blindness,  Congenital Stationary Night Blindness,  Astigmatism,  Hereditary Night Blindness,  Blindness,  Myopia,  Aland Island Eye Disease,  Blue Cone Monochromacy,  Congenital Stationary Night Blindness, Autosomal Dominant 2,  Achromatopsia,  Eye Disease Retinal Disease Show all 17


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