Names of Genes by Syndrome

Syndrome Gene Chromosome Location Category
NABLUS MASK-LIKE FACIAL SYNDROMENMLFS8q22.1Autism spectrum
N-ACETYLGLUCOSAMINIDASE ALPHA-NAGLU17q21.2Autism spectrum
Nager syndromeunknown9unknownCleft lip / cleft palate
Nance-Horan syndromeNHS23p22.2Autism spectrum
Narcissistic Personality DisorderBAZ2B2q24.2Pervasive Developmental Delay
NarcolepsyCHKB22q13.33Sleep disorders
NarcolepsyCPT1B22q13.33Sleep disorders
NarcolepsyHCRT17q21.2Sleep disorders
NarcolepsyHLA-DQA16p21.32Sleep disorders
NarcolepsyHLA-DQB16p21.32Sleep disorders
NarcolepsyHLA-DRB16p21.32Sleep disorders
NarcolepsyTNF6p21.33Sleep disorders
NarcolepsyTNFRSF1B1p36.22Sleep disorders
NarcolepsyTRA14q11.2Sleep disorders
Native American myopathySTAC312q13.3Arthrogryposis spectrum
NBCIE Nonbullous congenital ichthyosiform erythrodermaABCA122q35Alopecia
NBCIE Nonbullous congenital ichthyosiform erythrodermaALOX12B17p13.1Alopecia
NBCIE Nonbullous congenital ichthyosiform erythrodermaALOXE317p13.1Alopecia
NBCIE Nonbullous congenital ichthyosiform erythrodermaCASP1419p13.12Alopecia
NBCIE Nonbullous congenital ichthyosiform erythrodermaCERS315q26.3Alopecia
NBCIE Nonbullous congenital ichthyosiform erythrodermaCYP4F2219p13.12Alopecia
NBCIE Nonbullous congenital ichthyosiform erythrodermaNIPAL45q33.3Alopecia
NBCIE Nonbullous congenital ichthyosiform erythrodermaPNPLA16p21.31Alopecia
Nephrogenic diabetes insipidusAQP212q13.12Diabetes
Nephrogenic diabetes insipidusAVPR223q28Diabetes
Netherton syndromeSPINK55q32Asthma
NETRIN G1NTNG11p13.3Autism spectrum
NEURITE EXTENSION AND MIGRATION FACTORNEXMIF23q13.3Autism spectrum
NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCEDCONDSIAS1p34.3Autism spectrum
NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHYCONDBA17q21.31Autism spectrum
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2BNBIA2B22q13.1Autism spectrum
NEURODEVELOPMENTAL DISORDER 01NDHMSD9q34.3Autism spectrum
NEURODEVELOPMENTAL DISORDER 02NDHMSR9q34.3Autism spectrum
NEURODEVELOPMENTAL DISORDER 03NDHSAL2q32.3Autism spectrum
NEURODEVELOPMENTAL DISORDER 04NDPLHS9q22.33Autism spectrum
NEURODEVELOPMENTAL DISORDER 05NECFM19p13.13Autism spectrum
NEURODEVELOPMENTAL DISORDER 06NEDAMSS14q24.3Autism spectrum
NEURODEVELOPMENTAL DISORDER 07NEDBA16p13.3Autism spectrum
NEURODEVELOPMENTAL DISORDER 08NEDBEH1p36.23Autism spectrum
NEURODEVELOPMENTAL DISORDER 09NEDLBA5q31.1Autism spectrum
NEURODEVELOPMENTAL DISORDER 10NEDMAGA5q12.1Autism spectrum
NEURODEVELOPMENTAL DISORDER 11NEDMEBA14q21.1Autism spectrum
NEURODEVELOPMENTAL DISORDER 12NEDMIAL3p21.31Autism spectrum
NEURODEVELOPMENTAL DISORDER 13NEDSDV3p22.1Autism spectrum
Neurodevelopmental disorder with hypotonia seizures and absent languageHECW22q32.3Epilepsy and seizures
Neurodevelopmental disorder with or without anomalies of the brain eye heartRERE1p36.23Autism spectrum
neurofibromatosis type 1NF117q11.2Neurofibromatosis
neurohypophyseal diabetes insipidusAVP20p13Diabetes
NEUROLIGIN 1NLGN13q26.31Autism spectrum
NEUROLIGIN 4NLGN423P22.31-2Autism spectrum
Neuronal ceroid lipofuscinosis disease type 05CLN513q22.3Ataxia spectrum
Neuronal ceroid lipofuscinosis disease type 08CLN88p23.3Ataxia spectrum
Neuronal ceroid lipofuscinosis disease type 2TPP111p15.4Ataxia spectrum
Neuropathy ataxia and retinitis pigmentosaMT-ATP608527Ataxia spectrum
Neutral lipid storage disease with myopathyPNPLA211p15.5Hypothyroidism
NFJS/DPR Naegeli-Franceschetti-Jadassohn syndromeKRT1417q21.2Alopecia
NICOLAIDES-BARAITSER SYNDROMENCBRS9p24.3Autism spectrum
Niemann-Pick diseaseNPC118q11.2Ataxia spectrum
Niemann-Pick diseaseNPC214q24.3Ataxia spectrum
Niemann-Pick diseaseSMPD111p15.4Ataxia spectrum
Nijmegen breakage syndromeNBN8q21Microcephaly
NITRIC OXIDE SYNTHASE 1NOS112q24.22Autism spectrum
NLR FAMILY PYRIN DOMAIN-CONTAINING 5NLRP519q13.43Autism spectrum
Non-alcoholic fatty liver diseaseAPOC311q23.3Diabetes
Non-alcoholic fatty liver diseaseGCKR2p23.3Diabetes
Non-alcoholic fatty liver diseaseMBOAT719q13.42Diabetes
Non-alcoholic fatty liver diseasePNPLA322q13.31Diabetes
Non-alcoholic fatty liver diseaseTM6SF219p13.11Diabetes
Non-alcoholic fatty liver diseaseTRIB18q24.13Diabetes
Non-epileptic GLUT1 deficiency syndromeSLC2A11p34.2Ataxia spectrum
NONSTRUCTURAL MAINTENANCE OF CHROMOSOMES ELEMENT 3 HOMOLOGNSMCE315q13.1Autism spectrum
Nonsyndromic holoprosencephalySHH7q37Cleft lip / cleft palate
Nonsyndromic holoprosencephalySIX32p21Cleft lip / cleft palate
Nonsyndromic holoprosencephalyTGIF118p11.3Cleft lip / cleft palate
Nonsyndromic holoprosencephalyZIC213q32Cleft lip / cleft palate
Non-syndromic orofacial cleft 10SUMO12q33Cleft lip / cleft palate
Non-syndromic orofacial cleft 7PVRL111q23.3Cleft lip / cleft palate
Noonan syndromeA2ML112p13.31Autism spectrum
Noonan syndromeBRAF7q34Autism spectrum
Noonan syndromeKRAS12p12.1Autism spectrum
Noonan syndromeLZTR122q11.21Autism spectrum
Noonan syndromeMAP2K115q22.31Autism spectrum
Noonan syndromeMAP2K219p13.3Autism spectrum
Noonan syndromeNRAS1p13.2Autism spectrum
Noonan syndromePTPN1112q24.13Autism spectrum
Noonan syndromeRAF13p25.2Autism spectrum
Noonan syndromeRASA23q23Autism spectrum
Noonan syndromeRIT11q22Autism spectrum
Noonan syndromeRRAS19q13.33Autism spectrum
Noonan syndromeSOS12p22.1Autism spectrum
Noonan syndromeSOS214q21.3Autism spectrum
Noonan syndrome-like disorder with loose anagen hair 1SHOC210q25.2Autism spectrum
Noonan syndrome-like disorder with loose anagen hair 2PPP1CB2p23.2Autism spectrum
NUCLEAR RECEPTOR SUBFAMILY 1 GROUP I MEMBER 3NR1I31q23.3Autism spectrum


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