Syndrome |
Gene |
Chromosome |
Location |
Category |
NABLUS MASK-LIKE FACIAL SYNDROME | NMLFS | 8 | q22.1 | Autism spectrum |
| N-ACETYLGLUCOSAMINIDASE ALPHA- | NAGLU | 17 | q21.2 | Autism spectrum | |
Nager syndrome | unknown | 9 | unknown | Cleft lip / cleft palate | |
Nance-Horan syndrome | NHS | 23 | p22.2 | Autism spectrum | |
Narcissistic Personality Disorder | BAZ2B | 2 | q24.2 | Pervasive Developmental Delay | |
Narcolepsy | CHKB | 22 | q13.33 | Sleep disorders | |
Narcolepsy | CPT1B | 22 | q13.33 | Sleep disorders | |
Narcolepsy | HCRT | 17 | q21.2 | Sleep disorders | |
Narcolepsy | HLA-DQA1 | 6 | p21.32 | Sleep disorders | |
Narcolepsy | HLA-DQB1 | 6 | p21.32 | Sleep disorders | |
Narcolepsy | HLA-DRB1 | 6 | p21.32 | Sleep disorders | |
Narcolepsy | TNF | 6 | p21.33 | Sleep disorders | |
Narcolepsy | TNFRSF1B | 1 | p36.22 | Sleep disorders | |
Narcolepsy | TRA | 14 | q11.2 | Sleep disorders | |
Native American myopathy | STAC3 | 12 | q13.3 | Arthrogryposis spectrum | |
NBCIE Nonbullous congenital ichthyosiform erythroderma | ABCA12 | 2 | q35 | Alopecia | |
NBCIE Nonbullous congenital ichthyosiform erythroderma | ALOX12B | 17 | p13.1 | Alopecia | |
NBCIE Nonbullous congenital ichthyosiform erythroderma | ALOXE3 | 17 | p13.1 | Alopecia | |
NBCIE Nonbullous congenital ichthyosiform erythroderma | CASP14 | 19 | p13.12 | Alopecia | |
NBCIE Nonbullous congenital ichthyosiform erythroderma | CERS3 | 15 | q26.3 | Alopecia | |
NBCIE Nonbullous congenital ichthyosiform erythroderma | CYP4F22 | 19 | p13.12 | Alopecia | |
NBCIE Nonbullous congenital ichthyosiform erythroderma | NIPAL4 | 5 | q33.3 | Alopecia | |
NBCIE Nonbullous congenital ichthyosiform erythroderma | PNPLA1 | 6 | p21.31 | Alopecia | |
Nephrogenic diabetes insipidus | AQP2 | 12 | q13.12 | Diabetes | |
Nephrogenic diabetes insipidus | AVPR2 | 23 | q28 | Diabetes | |
Netherton syndrome | SPINK5 | 5 | q32 | Asthma | |
NETRIN G1 | NTNG1 | 1 | p13.3 | Autism spectrum | |
NEURITE EXTENSION AND MIGRATION FACTOR | NEXMIF | 23 | q13.3 | Autism spectrum | |
NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCED | CONDSIAS | 1 | p34.3 | Autism spectrum | |
NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHY | CONDBA | 17 | q21.31 | Autism spectrum | |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B | NBIA2B | 22 | q13.1 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 01 | NDHMSD | 9 | q34.3 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 02 | NDHMSR | 9 | q34.3 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 03 | NDHSAL | 2 | q32.3 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 04 | NDPLHS | 9 | q22.33 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 05 | NECFM | 19 | p13.13 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 06 | NEDAMSS | 14 | q24.3 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 07 | NEDBA | 16 | p13.3 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 08 | NEDBEH | 1 | p36.23 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 09 | NEDLBA | 5 | q31.1 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 10 | NEDMAGA | 5 | q12.1 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 11 | NEDMEBA | 14 | q21.1 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 12 | NEDMIAL | 3 | p21.31 | Autism spectrum | |
NEURODEVELOPMENTAL DISORDER 13 | NEDSDV | 3 | p22.1 | Autism spectrum | |
Neurodevelopmental disorder with hypotonia seizures and absent language | HECW2 | 2 | q32.3 | Epilepsy and seizures | |
Neurodevelopmental disorder with or without anomalies of the brain eye heart | RERE | 1 | p36.23 | Autism spectrum | |
neurofibromatosis type 1 | NF1 | 17 | q11.2 | Neurofibromatosis | |
neurohypophyseal diabetes insipidus | AVP | 20 | p13 | Diabetes | |
NEUROLIGIN 1 | NLGN1 | 3 | q26.31 | Autism spectrum | |
NEUROLIGIN 4 | NLGN4 | 23 | P22.31-2 | Autism spectrum | |
Neuronal ceroid lipofuscinosis disease type 05 | CLN5 | 13 | q22.3 | Ataxia spectrum | |
Neuronal ceroid lipofuscinosis disease type 08 | CLN8 | 8 | p23.3 | Ataxia spectrum | |
Neuronal ceroid lipofuscinosis disease type 2 | TPP1 | 11 | p15.4 | Ataxia spectrum | |
Neuropathy ataxia and retinitis pigmentosa | MT-ATP6 | 0 | 8527 | Ataxia spectrum | |
Neutral lipid storage disease with myopathy | PNPLA2 | 11 | p15.5 | Hypothyroidism | |
NFJS/DPR Naegeli-Franceschetti-Jadassohn syndrome | KRT14 | 17 | q21.2 | Alopecia | |
NICOLAIDES-BARAITSER SYNDROME | NCBRS | 9 | p24.3 | Autism spectrum | |
Niemann-Pick disease | NPC1 | 18 | q11.2 | Ataxia spectrum | |
Niemann-Pick disease | NPC2 | 14 | q24.3 | Ataxia spectrum | |
Niemann-Pick disease | SMPD1 | 11 | p15.4 | Ataxia spectrum | |
Nijmegen breakage syndrome | NBN | 8 | q21 | Microcephaly | |
NITRIC OXIDE SYNTHASE 1 | NOS1 | 12 | q24.22 | Autism spectrum | |
NLR FAMILY PYRIN DOMAIN-CONTAINING 5 | NLRP5 | 19 | q13.43 | Autism spectrum | |
Non-alcoholic fatty liver disease | APOC3 | 11 | q23.3 | Diabetes | |
Non-alcoholic fatty liver disease | GCKR | 2 | p23.3 | Diabetes | |
Non-alcoholic fatty liver disease | MBOAT7 | 19 | q13.42 | Diabetes | |
Non-alcoholic fatty liver disease | PNPLA3 | 22 | q13.31 | Diabetes | |
Non-alcoholic fatty liver disease | TM6SF2 | 19 | p13.11 | Diabetes | |
Non-alcoholic fatty liver disease | TRIB1 | 8 | q24.13 | Diabetes | |
Non-epileptic GLUT1 deficiency syndrome | SLC2A1 | 1 | p34.2 | Ataxia spectrum | |
NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 3 HOMOLOG | NSMCE3 | 15 | q13.1 | Autism spectrum | |
Nonsyndromic holoprosencephaly | SHH | 7 | q37 | Cleft lip / cleft palate | |
Nonsyndromic holoprosencephaly | SIX3 | 2 | p21 | Cleft lip / cleft palate | |
Nonsyndromic holoprosencephaly | TGIF1 | 18 | p11.3 | Cleft lip / cleft palate | |
Nonsyndromic holoprosencephaly | ZIC2 | 13 | q32 | Cleft lip / cleft palate | |
Non-syndromic orofacial cleft 10 | SUMO1 | 2 | q33 | Cleft lip / cleft palate | |
Non-syndromic orofacial cleft 7 | PVRL1 | 11 | q23.3 | Cleft lip / cleft palate | |
Noonan syndrome | A2ML1 | 12 | p13.31 | Autism spectrum | |
Noonan syndrome | BRAF | 7 | q34 | Autism spectrum | |
Noonan syndrome | KRAS | 12 | p12.1 | Autism spectrum | |
Noonan syndrome | LZTR1 | 22 | q11.21 | Autism spectrum | |
Noonan syndrome | MAP2K1 | 15 | q22.31 | Autism spectrum | |
Noonan syndrome | MAP2K2 | 19 | p13.3 | Autism spectrum | |
Noonan syndrome | NRAS | 1 | p13.2 | Autism spectrum | |
Noonan syndrome | PTPN11 | 12 | q24.13 | Autism spectrum | |
Noonan syndrome | RAF1 | 3 | p25.2 | Autism spectrum | |
Noonan syndrome | RASA2 | 3 | q23 | Autism spectrum | |
Noonan syndrome | RIT1 | 1 | q22 | Autism spectrum | |
Noonan syndrome | RRAS | 19 | q13.33 | Autism spectrum | |
Noonan syndrome | SOS1 | 2 | p22.1 | Autism spectrum | |
Noonan syndrome | SOS2 | 14 | q21.3 | Autism spectrum | |
Noonan syndrome-like disorder with loose anagen hair 1 | SHOC2 | 10 | q25.2 | Autism spectrum | |
Noonan syndrome-like disorder with loose anagen hair 2 | PPP1CB | 2 | p23.2 | Autism spectrum | |
NUCLEAR RECEPTOR SUBFAMILY 1 GROUP I MEMBER 3 | NR1I3 | 1 | q23.3 | Autism spectrum | |