| Gene |
Chromosome |
Location |
Syndrome |
Category |
| NAA15 | 4 | q31.1 | Autism 18 (AUTS18) | Autism spectrum | |
| NADK | 1 | p36.33 | Microcephaly - other | Microcephaly | |
| NADK2 | 5 | p13.2 | Microcephaly - other | Microcephaly | |
| NAGA | 22 | q11 | Schindler`s disease | Autism spectrum | |
| NAGLU | 17 | q21.2 | N-ACETYLGLUCOSAMINIDASE ALPHA- | Autism spectrum | |
| NAT10 | 11 | p13 | heterotaxy syndrome | Heterotaxy | |
| NBEA | 13 | q13.3 | Autism 18 (AUTS18) | Autism spectrum | |
| NBIA2B | 22 | q13.1 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B | Autism spectrum | |
| NBN | 8 | q21 | Nijmegen breakage syndrome | Microcephaly | |
| NCBRS | 9 | p24.3 | NICOLAIDES-BARAITSER SYNDROME | Autism spectrum | |
| NCF1 | 7 | q11.23 | Williams syndrome | Panic phobia anxiety | |
| NCKAP1 | 2 | q32.1 | Alzheimer - late onset | Alzheimer Syndrome | |
| NCOA2 | 8 | q13.3 | Thyroid disorders | Hypothyroidism | |
| NCOA4 | 10 | q11.22 | Thyroid disorders | Hypothyroidism | |
| NDE1 | 16 | p13.11 | Microcephaly - other | Microcephaly | |
| NDHMSD | 9 | q34.3 | NEURODEVELOPMENTAL DISORDER 01 | Autism spectrum | |
| NDHMSR | 9 | q34.3 | NEURODEVELOPMENTAL DISORDER 02 | Autism spectrum | |
| NDHSAL | 2 | q32.3 | NEURODEVELOPMENTAL DISORDER 03 | Autism spectrum | |
| NDP | 23 | p11.3 | Familial exudative vitreoretinopathy | Cataracts | |
| NDPLHS | 9 | q22.33 | NEURODEVELOPMENTAL DISORDER 04 | Autism spectrum | |
| NDUFB3 | 2 | q33.1 | Mitochondrial complex I deficiency | Vitamin B12 metabolism spectrum | |
| NECFM | 19 | p13.13 | NEURODEVELOPMENTAL DISORDER 05 | Autism spectrum | |
| NEDAMSS | 14 | q24.3 | NEURODEVELOPMENTAL DISORDER 06 | Autism spectrum | |
| NEDBA | 16 | p13.3 | NEURODEVELOPMENTAL DISORDER 07 | Autism spectrum | |
| NEDBEH | 1 | p36.23 | NEURODEVELOPMENTAL DISORDER 08 | Autism spectrum | |
| NEDLBA | 5 | q31.1 | NEURODEVELOPMENTAL DISORDER 09 | Autism spectrum | |
| NEDMAGA | 5 | q12.1 | NEURODEVELOPMENTAL DISORDER 10 | Autism spectrum | |
| NEDMEBA | 14 | q21.1 | NEURODEVELOPMENTAL DISORDER 11 | Autism spectrum | |
| NEDMIAL | 3 | p21.31 | NEURODEVELOPMENTAL DISORDER 12 | Autism spectrum | |
| NEDSDV | 3 | p22.1 | NEURODEVELOPMENTAL DISORDER 13 | Autism spectrum | |
| NEFH | 22 | q12.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| NEK1 | 4 | q33 | Short-rib thoracic dysplasia 13 | Cleft lip / cleft palate | |
| NEU1 | 6 | p21.33 | Sialidosis | Ataxia spectrum | |
| NEUROD1 | 2 | q31.3 | Type 2 Diabetes | Diabetes | |
| NEXMIF | 23 | q13.3 | NEURITE EXTENSION AND MIGRATION FACTOR | Autism spectrum | |
| NF1 | 17 | q11.2 | neurofibromatosis type 1 | Neurofibromatosis | |
| NFKBIL1 | 6 | p21.33 | Rheumatoid arthritis | Arthritis | |
| NHLRC1 | 6 | p22.3 | Lafora progressive myoclonus epilepsy | Epilepsy and seizures | |
| NHS | 23 | p22.2 | Nance-Horan syndrome | Autism spectrum | |
| NHS | 23 | p22.2 | Cataract 40 (CTRCT40) | Cataracts | |
| NIPAL4 | 5 | q33.3 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
| NIPAL4 | 5 | q33.3 | Lamellar ichthyosis | Alopecia | |
| NIPBL | 5 | p13.2 | Microcephaly - other | Microcephaly | |
| NIPBL | 5 | p13.2 | Cornelia de Lange Syndrome | Autism spectrum | |
| NKX2-1 | 14 | q13.3 | Brain-lung-thyroid syndrome | Hypothyroidism | |
| NKX2-5 | 5 | q35.1 | heterotaxy syndrome | Heterotaxy | |
| NKX2-5 | 5 | q35.1 | Congenital hypothyroidism | Hypothyroidism | |
| NLGN1 | 3 | q26.31 | NEUROLIGIN 1 | Autism spectrum | |
| NLGN2 | 17 | p13.1 | Pervasive Developmental Delay - not otherwise specified | Pervasive Developmental Delay | |
| NLGN3 | 23 | q13.1 | Asperger X-linked 1 (APGX1) | Asperger`s | |
| NLGN3 | 23 | q13.1 | Autism X-linked 1 (AUTSX1) | Autism spectrum | |
| NLGN4 | 23 | P22.31-2 | NEUROLIGIN 4 | Autism spectrum | |
| NLGN4X | 23 | p22.33 | Autism X-linked 2 (AUTSX2) | Autism spectrum | |
| NLGN4X | 23 | p22.32 | Asperger X-linked 2 (APGX2) | Asperger`s | |
| NLRP1 | 17 | p13.2 | Type 1 Diabetes | Diabetes | |
| NLRP5 | 19 | q13.43 | NLR FAMILY PYRIN DOMAIN-CONTAINING 5 | Autism spectrum | |
| NMLFS | 8 | q22.1 | NABLUS MASK-LIKE FACIAL SYNDROME | Autism spectrum | |
| NMNAT1 | 1 | p36.22 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| NNT | 5 | p12 | Thyroid disorders | Hypothyroidism | |
| NOD2 | 16 | q12.1 | Crohn Disease | Irritable Bowel Disorders | |
| NOD2 | 16 | q12.1 | Blau syndrome | Photophobia - sensitivity to light | |
| NODAL | 10 | q22.1 | heterotaxy syndrome | Heterotaxy | |
| NODAL | 10 | q22.1 | Microcephaly - other | Microcephaly | |
| NOP56 | 20 | p13 | Spinocerebellar ataxia type 36 | Ataxia spectrum | |
| NOS1 | 12 | q24.22 | NITRIC OXIDE SYNTHASE 1 | Autism spectrum | |
| NOTCH2 | 1 | p11-13 | Hajdu-Cheney syndrome | Cleft lip / cleft palate | |
| NOTCH3 | 19 | p13.12 | Cerebral autosomal dominant arteriopathy (CADASIL) | Epilepsy and seizures | |
| NPAS2 | 2 | q11.2 | Seasonal affective disorder | Sleep disorders | |
| NPC1 | 18 | q11.2 | Niemann-Pick disease | Ataxia spectrum | |
| NPC2 | 14 | q24.3 | Niemann-Pick disease | Ataxia spectrum | |
| NPPA | 1 | p36.21 | Atrial standstill 2 | Bradycardia (<60 beats/minute) | |
| NPRL2 | 3 | p21.31 | Familial focal epilepsy with variable foci | Epilepsy and seizures | |
| NPRL3 | 16 | p13.3 | Familial focal epilepsy with variable foci | Epilepsy and seizures | |
| NPSR1 | 7 | p14.3 | Asthma-related traits 2 (ASRT2) | Asthma | |
| NR0B2 | 1 | p36.11 | Thyroid disorders | Hypothyroidism | |
| NR1I3 | 1 | q23.3 | NUCLEAR RECEPTOR SUBFAMILY 1 GROUP I MEMBER 3 | Autism spectrum | |
| NR4A2 | 2 | q24.1 | Thyroid disorders | Hypothyroidism | |
| NR4A3 | 9 | q31.1 | Thyroid disorders | Hypothyroidism | |
| NRAS | 1 | p13.2 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
| NRAS | 1 | p13.2 | Noonan syndrome | Autism spectrum | |
| NRXN1 | 2 | p16.3 | Pitt-Hopkins-like syndrome 2 | Autism spectrum | |
| NRXN1 | 2 | p16.3 | Pitt-Hopkins syndrome | Autism spectrum | |
| NRXN2 | 11 | q13.1 | Pervasive Developmental Delay - not otherwise specified | Pervasive Developmental Delay | |
| NRXN3 | 14 | q24.3 | Pervasive Developmental Delay - not otherwise specified | Pervasive Developmental Delay | |
| NSD1 | 5 | q35.3 | Sotos syndrome | Panic phobia anxiety | |
| NSD2 | 4 | p16.3 | Microcephaly - other | Microcephaly | |
| NSMCE3 | 15 | q13.1 | NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 3 HOMOLOG | Autism spectrum | |
| NTNG1 | 1 | p13.3 | NETRIN G1 | Autism spectrum | |
| NTRK1 | 1 | q23.1 | Thyroid disorders | Hypothyroidism | |
| NTRK3 | 15 | q25.3 | Acute myeloid leukemia | Leukemia | |
| NTXN1 | 2 | p16.3 | Schizophrenia 17 | Schizophrenia | |
| NUS1 | 6 | q22.1 | Mental retardation autosomal dominant 55 with seizures | Epilepsy and seizures | |