Names of Genes

Gene Chromosome Location Syndrome Category
A2M12p13.31Alzheimer - late onsetAlzheimer Syndrome
A2ML112p13.31Noonan syndromeAutism spectrum
AAAS12q13.13Microcephaly - otherMicrocephaly
AANAT17q25.1Sleep-wake schedule disorder - delayed phase typeSleep disorders
AARS16q22.1Epileptic encephalopathy early infantile 29 (EIEE29)Autism spectrum
AB0593694p16.1Autism 18 (AUTS18)Autism spectrum
ABAT16p13.2GABA-transaminase deficiencyEpilepsy and seizures
ABCA19q31.1Type 2 DiabetesDiabetes
ABCA122q35NBCIE Nonbullous congenital ichthyosiform erythrodermaAlopecia
ABCA122q35Lamellar ichthyosisAlopecia
ABCA41p22.1cone-rod dystrophyPhotophobia - sensitivity to light
ABCA719p13.3Alzheimer - late onsetAlzheimer Syndrome
ABCB17q21.12Ulcerative colitisIrritable Bowel Disorders
ABCB112q24Intraheptic cholestasisBradycardia (<60 beats/minute)
ABCB723q13.3X-linked sideroblastic anemia and ataxiaAtaxia spectrum
ABCC811p15.1Congenital hyperinsulinismDiabetes
ABCC811p15.1Permanent neonatal diabetes mellitusDiabetes
ABCD414 q24.3methylmalonic acidemia with homocystinuria Vitamin B12 metabolism spectrum
ABCD414q24.3Microcephaly - otherMicrocephaly
ABCD47q21.1Intraheptic cholestasisBradycardia (<60 beats/minute)
ABHD1220p11.21Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC)Cataracts
ABHD53p21.33Chanarin-Dorfman syndrome type 2Cataracts
ABHD53p21.33Chanarin-Dorfman syndrome type 1Ataxia spectrum
ABL19q34.12Acute lymphoblastic leukemiaLeukemia
ACADM1p31.1Medium-chain acyl-CoA dehydrogenase deficiencyReye`s Syndrome-like diseases
ACADS12q24.31Short-chain acyl-CoA dehydrogenase deficiencyReye`s Syndrome-like diseases
ACADS12q24.31Short-chain acyl-CoA dehydrogenase (SCAD) deficiencyMicrocephaly
ACADVL17p13.1Very long-chain acyl-CoA dehydrogenase deficiencyReye`s Syndrome-like diseases
ACADVLD17p13.1ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OFAutism spectrum
ACE17q23.3Type 2 DiabetesDiabetes
ACE17q23.3Type 1 DiabetesDiabetes
ACOX117q25.1Peroxisomal acyl-CoA oxidase deficiencyEpilepsy and seizures
ACP519p13.2Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)Hypothyroidism
ACRDYS25q11.2-q12.ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCEAutism spectrum
ACSF316q24.3Combined malonic and methylmalonic aciduria (CMAMMA)Microcephaly
ACTB7p22.1Baraitser-Winter syndromeAutism spectrum
ACTG117q25.3Baraitser-Winter syndromeAutism spectrum
ACTR3BP22p11.1-2Autism 18 (AUTS18)Autism spectrum
ACVR2B3p22.2heterotaxy syndromeHeterotaxy
ADA20q13.12ADENOSINE DEAMINASEAutism spectrum
ADAM172p25.1Crohn DiseaseIrritable Bowel Disorders
ADAM195q33.3Alzheimer - late onsetAlzheimer Syndrome
ADAM3320p13Asthma-related traits (ASRT)Asthma
ADAMTS139q34Thrombotic thrombocytopenic purpuraTachycardia (>100 beats/minute)
ADAMTSL41q21.2Ectopia lentisCataracts
ADAR1q21.3Aicardi-Goutieres SyndromeAutism spectrum
ADCL310q24.1CUTIS LAXA AUTOSOMAL DOMINANT 3Autism spectrum
ADCY32p23.3Autism 18 (AUTS18)Autism spectrum
ADCY53q21.1ADCY5-related dyskinesiaPanic phobia anxiety
ADCY53q21.1Type 2 DiabetesDiabetes
ADCY612q13.12Lethal congenital contracture syndrome 8 (LCCS8)Arthrogryposis spectrum
ADHD116p13ATTENTION DEFICIT-HYPERACTIVITY DISORDERAutism spectrum
ADHD217p11ATTENTION DEFICIT-HYPERACTIVITY DISORDERAutism spectrum
ADHD36q12ATTENTION DEFICIT-HYPERACTIVITY DISORDERAutism spectrum
ADHD45p13ATTENTION DEFICIT-HYPERACTIVITY DISORDERAutism spectrum
ADH1C4q23Parkinson disease susceptabilityParkinsonism
ADK10q22.2ADENOSINE KINASEAutism spectrum
ADNP20q13.13Helsmoortel-van der Aa syndromeAutism spectrum
ADRA2A10q25.2Familial partial lipodystrophyDiabetes
ADRB25q31-32Asthma-related traits (ASRT)Asthma
ADRB25q32Type 2 DiabetesDiabetes
ADSL22q13.1Microcephaly - otherMicrocephaly
ADSLD22q13.1ADENYLOSUCCINASE DEFICIENCYAutism spectrum
AFF14q21.3Fragile XE syndromeAutism spectrum
AFF223q28Fragile XE syndromeAutism spectrum
AFF32q11.2Rheumatoid arthritisArthritis
AFF45q31.1Microcephaly - otherMicrocephaly
AFG3L218p11.21Progressive external ophthalmoplegiaAtaxia spectrum
AFP4q13.3Alpha-fetoprotein hereditary persistence (HPAFP)Copper metabolism defects
AGAP212q14.1 Autism 18 (AUTS18)Autism spectrum
AGL1p21.2Glycogen storage disease type IIIHyperlipidemia
AGPAT29q34.3Type 2 DiabetesDiabetes
AGPS2q31.2Rhizomelic chondrodysplasia punctata type 3Rhizomelic chondrodysplasia punctata
AGTR13q24Type 1 DiabetesDiabetes
AGTR223q23ANGIOTENSIN II RECEPTOR TYPE 2Autism spectrum
AHDC11p36.11Xia-Gibbs syndromeAutism spectrum
AHI16q23.3ABELSON HELPER INTEGRATION SITE 1Autism spectrum
AIPL117p13.2Leber congenital amaurosisPhotophobia - sensitivity to light
AIRE21q22.3APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophyAlopecia
AK3085619q13Autism 18 (AUTS18)Autism spectrum
AKAP1017p11.1Ventricular tachycardiaTachycardia (>100 beats/minute)
AKT219q13.2Familial partial lipodystrophyDiabetes
AKT31q44Microcephaly - otherMicrocephaly
AKT31q43-44Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeAutism spectrum
ALAS223p11.21X-linked sideroblastic anemiaTachycardia (>100 beats/minute)
ALD23q28ADRENOLEUKODYSTROPHYAutism spectrum
ALDH18A110q24.1Cutis laxa autosomal recessive 3A (ARCL3A)Cataracts
ALDH1A315q26.3ALDEHYDE DEHYDROGENASE 1 FAMILY MEMBER A3Autism spectrum
ALDH5A16p22.3Succinic semialdehyde dehydrogenase deficiencyPanic phobia anxiety
ALDH7A15q23.2Pyridoxine-dependent epilepsyEpilepsy and seizures
ALG116p13.3ALG1-congenital disorder of glycosylationAtaxia spectrum
ALG1222q13.33Microcephaly - otherMicrocephaly
ALG1L23q22.1Autism 18 (AUTS18)Autism spectrum
ALG61p31.3ALG6-congenital disorder of glycosylationAtaxia spectrum
all21p and qDown syndromeTrisomies (Down Syndrome) spectrum
All X Y23X and Y48 XXYYAutism spectrum
ALMS12p13.1Alstrom syndromeDiabetes
ALOX1217p13.1Type 2 DiabetesDiabetes
ALOX12B17p13.1NBCIE Nonbullous congenital ichthyosiform erythrodermaAlopecia
ALOX510q11.2Asthma-related traits (ASRT)Asthma
ALOX5AP13q12Leukotriene C4 synthase deficiencyAsthma
ALOXE317p13.1NBCIE Nonbullous congenital ichthyosiform erythrodermaAlopecia
ALS22q33.1ALSALS - amyotrophic lateral sclerosis
ALX112q21.31Frontonasal dysplasiaCleft lip / cleft palate
ALX31p13.3Frontonasal dysplasiaCleft lip / cleft palate
ALX411p11.2Potocki-Shaffer syndromeAutism spectrum
AMACR5p13.2Alpha-methylacyl-CoA racemase deficiencyAtaxia spectrum
AMCN5q35.1ARTHROGRYPOSIS MULTIPLEX CONGENITA NEUROGENIC TYPEAutism spectrum
AMN14q32.32Imerslund-Grasbeck syndromeVitamin B12 metabolism spectrum
AMPD21p13.3Pontocerebellar hypoplasiaMicrocephaly
AMRS1p21.2ARTHROGRYPOSIS MENTAL RETARDATIONAND SEIZURESAutism spectrum
AMT3p21.31GLYCINE ENCEPHALOPATHYAutism spectrum
AN111p13ANIRIDIA 1Autism spectrum
AN211p13ANIRIDIA 2Autism spectrum
ANG14q11.2ALSALS - amyotrophic lateral sclerosis
ANGPTL419p13.2Type 2 DiabetesDiabetes
ANK24q25-q27Romano-Ward syndromeBradycardia (<60 beats/minute)
ANK310q21Mental retardation autosomal recessive 37 (MRT37)Autism spectrum
ANKLE212q24Microcephaly - otherMicrocephaly
ANKRD1116q24.3KBG SyndromeAutism spectrum
ANKRD30BP221q11.2Autism 18 (AUTS18)Autism spectrum
ANO103p22.1Spinocerebellar ataxia autosomal recessive type 10Ataxia spectrum
ANOS123p22.32Kallmann syndrome types 1 and 2Cleft lip / cleft palate
AP3B15q14.1Hermansky-Pudlak syndromeIrritable Bowel Disorders
AP3D119p13.3Hermansky-Pudlak syndromeIrritable Bowel Disorders
AP4B11p13.2Cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorderCerebral palsy
AP4E115q21.2Cerebral palsy spastic quadriplegic type 4 (CPSQ4) disorderCerebral palsy
AP4M17q22.1Cerebral palsy spastic quadriplegic type 3 (CPSQ3) disorderCerebral palsy
AP4S114q12Cerebral palsy spastic quadriplegic type 6 (CPSQ6) disorderCerebral palsy
APBB24p13Alzheimer - late onsetAlzheimer Syndrome
APOC311q23.3Non-alcoholic fatty liver diseaseDiabetes
APOE19q13.2Alzheimer - late onsetAlzheimer Syndrome
APP21q21.3hereditary cerebral amyloid angiopathyAlzheimer Syndrome
APP21q21.3Alzheimer - early onsetAlzheimer Syndrome
APTX9p21.1Ataxia with oculomotor apraxiaAtaxia spectrum
AQP212q13.12Nephrogenic diabetes insipidusDiabetes
AR23q12Androgenetic alopeciaAlopecia
ARFGEF220q13.13Periventricular heterotopiaMicrocephaly
ARG16q23.2Arginase deficiencyAtaxia spectrum
ARHGAP3211q24.3ALSALS - amyotrophic lateral sclerosis
ARHGAP3211q24.3Jacobsen syndromeAutism spectrum
ARHGEF923q11.1hereditary hyperekplexiaEpilepsy and seizures
ARID1A1p36.11Microcephaly - otherMicrocephaly
ARID1B6q25.3Coffin-Siris syndrome 1Autism spectrum
ARID1B6q25.3Microcephaly - otherMicrocephaly
ARID5B10q21.2Rheumatoid arthritisArthritis
ARNTL11p15.3Seasonal affective disorderSleep disorders
ARVCF22q11.21ARMADILLO REPEAT GENE DELETED IN VCFSAutism spectrum
ARX23p21.3Partington syndromeAutism spectrum
AS15q11.2ANGELMAN SYNDROMEAutism spectrum
ASAH18p22Spinal muscular atrophy with progressive myoclonic epilepsyEpilepsy and seizures
ASH1L1q22 Autism 18 (AUTS18)Autism spectrum
ASPG13q25-27Asperger syndrome - classicalAsperger`s
ASPG217p13Asperger syndrome - classicalAsperger`s
ASPG31q21-22Asperger syndrome - classicalAsperger`s
ASPG43p24-21Asperger syndrome - classicalAsperger`s
ASPGX123q13.1ASPERGER SYNDROME - X-LINKEDAutism spectrum
ASPGX223p22.32-p22ASPERGER SYNDROME - X-LINKEDAutism spectrum
ASPM1q31Autosomal recessive primary microcephalyMicrocephaly
ASS19q34.11CitrullinemiaAtaxia spectrum
ASXL318q12.1Bainbridge-Ropers syndromeAutism spectrum
ASXL318q12.1Thyroid disordersHypothyroidism
ATCAY19p13.3Cerebellar ataxia cayman typeAtaxia spectrum
ATG16L12q37.1Crohn DiseaseIrritable Bowel Disorders
ATM11q22.3Ataxia-telangiectasiaAtaxia spectrum
ATN112p13.31Dentatorubral-pallidoluysian atrophyAtaxia spectrum
ATP10A15q12ATPase CLASS V TYPE 10AAutism spectrum
ATP1A21q23.2Sporadic hemiplegic migraineAtaxia spectrum
ATP1A319q13.2Rapid-onset dystonia parkinsonismPanic phobia anxiety
ATP13A21p36.13Parkinson disease type 9 Parkinsonism
ATP2A212q24.11Darier diseaseEpilepsy and seizures
ATP7A23q21.1Menkes syndrome.Copper metabolism defects
ATP7B13q14.3Wilson diseasePanic phobia anxiety
ATP7B13q14.3Wilson Disease - copperCopper metabolism defects
ATP8A213q12.13Cerebellar ataxia mental retardation and dysequilibrium syndrome type 04Ataxia spectrum
ATRX23q21.1Microcephaly - otherMicrocephaly
ATRX23q21.1 - alMicrocephaly - otherMicrocephaly
ATXN16p22.3Spinocerebellar ataxia type 01Ataxia spectrum
ATXN1022q13.31Spinocerebellar ataxia type 10Ataxia spectrum
ATXN212q24.12ALSALS - amyotrophic lateral sclerosis
ATXN212q24.12Parkinson disease susceptabilityParkinsonism
ATXN212q24.12Spinocerebellar ataxia type 02Ataxia spectrum
ATXN314q32.12Spinocerebellar ataxia type 03Ataxia spectrum
ATXN73p14.1Autosomal dominant cerebellar ataxiasAtaxia spectrum
ATXN8OS13q21.33Spinocerebellar ataxia type 08Ataxia spectrum
ATXN8OS13q21.33Parkinson disease susceptabilityParkinsonism
AUH9q22.313-methylglutaconyl-CoA hydratase deficiencyAtaxia spectrum
AUTS17q22AUTISMAutism spectrum
AUTS107q36AUTISMAutism spectrum
AUTS111q41-q42AUTISMAutism spectrum
AUTS1221p13-q11AUTISMAutism spectrum
AUTS1312q14.2AUTISMAutism spectrum
AUTS14A16p11.2AUTS14A - 16p11.2 deletion syndromeAutism spectrum
AUTS14B16p11.2AUTS14B replication syndromeAutism spectrum
AUTS157q35-q36AUTISMAutism spectrum
AUTS163q24AUTISMAutism spectrum
AUTS1711q13.3-q13.AUTISMAutism spectrum
AUTS1814q11.2AUTISMAutism spectrum
AUTS194q23AUTISMAutism spectrum
AUTS27q11.22Mental retardation autosomal dominant 26 (MRD26)Autism spectrum
AUTS27q11.22Early-onset androgenetic alopeciaAlopecia
AUTS313q14.2-q14.AUTISMAutism spectrum
AUTS415q11AUTISMAutism spectrum
AUTS617q11AUTISMAutism spectrum
AUTS717q21AUTISMAutism spectrum
AUTS83q25-q27AUTISMAutism spectrum
AUTS97q31AUTISMAutism spectrum
AUTSX123q13.1AUTISM - X-LINKEDAutism spectrum
AUTSX223p22.32-p22AUTISM - X-LINKEDAutism spectrum
AUTSX323q28AUTISM - X-LINKEDAutism spectrum
AUTSX423p22.11AUTISM - X-LINKEDAutism spectrum
AUTSX523q28AUTISM - X-LINKEDAutism spectrum
AUTSX623q28AUTISM - X-LINKEDAutism spectrum
AVP20p13neurohypophyseal diabetes insipidusDiabetes
AVPR223q28Nephrogenic diabetes insipidusDiabetes


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