| Gene |
Chromosome |
Location |
Syndrome |
Category |
| A2M | 12 | p13.31 | Alzheimer - late onset | Alzheimer Syndrome | |
| A2ML1 | 12 | p13.31 | Noonan syndrome | Autism spectrum | |
| AAAS | 12 | q13.13 | Microcephaly - other | Microcephaly | |
| AANAT | 17 | q25.1 | Sleep-wake schedule disorder - delayed phase type | Sleep disorders | |
| AARS | 16 | q22.1 | Epileptic encephalopathy early infantile 29 (EIEE29) | Autism spectrum | |
| AB059369 | 4 | p16.1 | Autism 18 (AUTS18) | Autism spectrum | |
| ABAT | 16 | p13.2 | GABA-transaminase deficiency | Epilepsy and seizures | |
| ABCA1 | 9 | q31.1 | Type 2 Diabetes | Diabetes | |
| ABCA12 | 2 | q35 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
| ABCA12 | 2 | q35 | Lamellar ichthyosis | Alopecia | |
| ABCA4 | 1 | p22.1 | cone-rod dystrophy | Photophobia - sensitivity to light | |
| ABCA7 | 19 | p13.3 | Alzheimer - late onset | Alzheimer Syndrome | |
| ABCB1 | 7 | q21.12 | Ulcerative colitis | Irritable Bowel Disorders | |
| ABCB11 | 2 | q24 | Intraheptic cholestasis | Bradycardia (<60 beats/minute) | |
| ABCB7 | 23 | q13.3 | X-linked sideroblastic anemia and ataxia | Ataxia spectrum | |
| ABCC8 | 11 | p15.1 | Congenital hyperinsulinism | Diabetes | |
| ABCC8 | 11 | p15.1 | Permanent neonatal diabetes mellitus | Diabetes | |
| ABCD4 | 14 |
q24.3 | methylmalonic acidemia with homocystinuria |
Vitamin B12 metabolism spectrum |
|
| ABCD4 | 14 | q24.3 | Microcephaly - other | Microcephaly | |
| ABCD4 | 7 | q21.1 | Intraheptic cholestasis | Bradycardia (<60 beats/minute) | |
| ABHD12 | 20 | p11.21 | Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC) | Cataracts | |
| ABHD5 | 3 | p21.33 | Chanarin-Dorfman syndrome type 2 | Cataracts | |
| ABHD5 | 3 | p21.33 | Chanarin-Dorfman syndrome type 1 | Ataxia spectrum | |
| ABL1 | 9 | q34.12 | Acute lymphoblastic leukemia | Leukemia | |
| ACADM | 1 | p31.1 | Medium-chain acyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| ACADS | 12 | q24.31 | Short-chain acyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| ACADS | 12 | q24.31 | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency | Microcephaly | |
| ACADVL | 17 | p13.1 | Very long-chain acyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| ACADVLD | 17 | p13.1 | ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF | Autism spectrum | |
| ACE | 17 | q23.3 | Type 2 Diabetes | Diabetes | |
| ACE | 17 | q23.3 | Type 1 Diabetes | Diabetes | |
| ACOX1 | 17 | q25.1 | Peroxisomal acyl-CoA oxidase deficiency | Epilepsy and seizures | |
| ACP5 | 19 | p13.2 | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) | Hypothyroidism | |
| ACRDYS2 | 5 | q11.2-q12. | ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | Autism spectrum | |
| ACSF3 | 16 | q24.3 | Combined malonic and methylmalonic aciduria (CMAMMA) | Microcephaly | |
| ACTB | 7 | p22.1 | Baraitser-Winter syndrome | Autism spectrum | |
| ACTG1 | 17 | q25.3 | Baraitser-Winter syndrome | Autism spectrum | |
| ACTR3BP2 | 2 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
| ACVR2B | 3 | p22.2 | heterotaxy syndrome | Heterotaxy | |
| ADA | 20 | q13.12 | ADENOSINE DEAMINASE | Autism spectrum | |
| ADAM17 | 2 | p25.1 | Crohn Disease | Irritable Bowel Disorders | |
| ADAM19 | 5 | q33.3 | Alzheimer - late onset | Alzheimer Syndrome | |
| ADAM33 | 20 | p13 | Asthma-related traits (ASRT) | Asthma | |
| ADAMTS13 | 9 | q34 | Thrombotic thrombocytopenic purpura | Tachycardia (>100 beats/minute) | |
| ADAMTSL4 | 1 | q21.2 | Ectopia lentis | Cataracts | |
| ADAR | 1 | q21.3 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| ADCL3 | 10 | q24.1 | CUTIS LAXA AUTOSOMAL DOMINANT 3 | Autism spectrum | |
| ADCY3 | 2 | p23.3 | Autism 18 (AUTS18) | Autism spectrum | |
| ADCY5 | 3 | q21.1 | ADCY5-related dyskinesia | Panic phobia anxiety | |
| ADCY5 | 3 | q21.1 | Type 2 Diabetes | Diabetes | |
| ADCY6 | 12 | q13.12 | Lethal congenital contracture syndrome 8 (LCCS8) | Arthrogryposis spectrum | |
| ADHD1 | 16 | p13 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| ADHD2 | 17 | p11 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| ADHD3 | 6 | q12 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| ADHD4 | 5 | p13 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| ADH1C | 4 | q23 | Parkinson disease susceptability | Parkinsonism |
| ADK | 10 | q22.2 | ADENOSINE KINASE | Autism spectrum | |
| ADNP | 20 | q13.13 | Helsmoortel-van der Aa syndrome | Autism spectrum | |
| ADRA2A | 10 | q25.2 | Familial partial lipodystrophy | Diabetes | |
| ADRB2 | 5 | q31-32 | Asthma-related traits (ASRT) | Asthma | |
| ADRB2 | 5 | q32 | Type 2 Diabetes | Diabetes | |
| ADSL | 22 | q13.1 | Microcephaly - other | Microcephaly | |
| ADSLD | 22 | q13.1 | ADENYLOSUCCINASE DEFICIENCY | Autism spectrum | |
| AFF1 | 4 | q21.3 | Fragile XE syndrome | Autism spectrum | |
| AFF2 | 23 | q28 | Fragile XE syndrome | Autism spectrum | |
| AFF3 | 2 | q11.2 | Rheumatoid arthritis | Arthritis | |
| AFF4 | 5 | q31.1 | Microcephaly - other | Microcephaly | |
| AFG3L2 | 18 | p11.21 | Progressive external ophthalmoplegia | Ataxia spectrum | |
| AFP | 4 | q13.3 | Alpha-fetoprotein hereditary persistence (HPAFP) | Copper metabolism defects | |
| AGAP2 | 12 | q14.1 | Autism 18 (AUTS18) | Autism spectrum | |
| AGL | 1 | p21.2 | Glycogen storage disease type III | Hyperlipidemia | |
| AGPAT2 | 9 | q34.3 | Type 2 Diabetes | Diabetes | |
| AGPS | 2 | q31.2 | Rhizomelic chondrodysplasia punctata type 3 | Rhizomelic chondrodysplasia punctata | |
| AGTR1 | 3 | q24 | Type 1 Diabetes | Diabetes | |
| AGTR2 | 23 | q23 | ANGIOTENSIN II RECEPTOR TYPE 2 | Autism spectrum | |
| AHDC1 | 1 | p36.11 | Xia-Gibbs syndrome | Autism spectrum | |
| AHI1 | 6 | q23.3 | ABELSON HELPER INTEGRATION SITE 1 | Autism spectrum | |
| AIPL1 | 17 | p13.2 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| AIRE | 21 | q22.3 | APECED Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy | Alopecia | |
| AK308561 | 9 | q13 | Autism 18 (AUTS18) | Autism spectrum | |
| AKAP10 | 17 | p11.1 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
| AKT2 | 19 | q13.2 | Familial partial lipodystrophy | Diabetes | |
| AKT3 | 1 | q44 | Microcephaly - other | Microcephaly | |
| AKT3 | 1 | q43-44 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Autism spectrum | |
| ALAS2 | 23 | p11.21 | X-linked sideroblastic anemia | Tachycardia (>100 beats/minute) | |
| ALD | 23 | q28 | ADRENOLEUKODYSTROPHY | Autism spectrum | |
| ALDH18A1 | 10 | q24.1 | Cutis laxa autosomal recessive 3A (ARCL3A) | Cataracts | |
| ALDH1A3 | 15 | q26.3 | ALDEHYDE DEHYDROGENASE 1 FAMILY MEMBER A3 | Autism spectrum | |
| ALDH5A1 | 6 | p22.3 | Succinic semialdehyde dehydrogenase deficiency | Panic phobia anxiety | |
| ALDH7A1 | 5 | q23.2 | Pyridoxine-dependent epilepsy | Epilepsy and seizures | |
| ALG1 | 16 | p13.3 | ALG1-congenital disorder of glycosylation | Ataxia spectrum | |
| ALG12 | 22 | q13.33 | Microcephaly - other | Microcephaly | |
| ALG1L2 | 3 | q22.1 | Autism 18 (AUTS18) | Autism spectrum | |
| ALG6 | 1 | p31.3 | ALG6-congenital disorder of glycosylation | Ataxia spectrum | |
| all | 21 | p and q | Down syndrome | Trisomies (Down Syndrome) spectrum | |
| All X Y | 23 | X and Y | 48 XXYY | Autism spectrum | |
| ALMS1 | 2 | p13.1 | Alstrom syndrome | Diabetes | |
| ALOX12 | 17 | p13.1 | Type 2 Diabetes | Diabetes | |
| ALOX12B | 17 | p13.1 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
| ALOX5 | 10 | q11.2 | Asthma-related traits (ASRT) | Asthma | |
| ALOX5AP | 13 | q12 | Leukotriene C4 synthase deficiency | Asthma | |
| ALOXE3 | 17 | p13.1 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
| ALS2 | 2 | q33.1 | ALS | ALS - amyotrophic lateral sclerosis | |
| ALX1 | 12 | q21.31 | Frontonasal dysplasia | Cleft lip / cleft palate | |
| ALX3 | 1 | p13.3 | Frontonasal dysplasia | Cleft lip / cleft palate | |
| ALX4 | 11 | p11.2 | Potocki-Shaffer syndrome | Autism spectrum | |
| AMACR | 5 | p13.2 | Alpha-methylacyl-CoA racemase deficiency | Ataxia spectrum | |
| AMCN | 5 | q35.1 | ARTHROGRYPOSIS MULTIPLEX CONGENITA NEUROGENIC TYPE | Autism spectrum | |
| AMN | 14 | q32.32 | Imerslund-Grasbeck syndrome | Vitamin B12 metabolism spectrum | |
| AMPD2 | 1 | p13.3 | Pontocerebellar hypoplasia | Microcephaly | |
| AMRS | 1 | p21.2 | ARTHROGRYPOSIS MENTAL RETARDATIONAND SEIZURES | Autism spectrum | |
| AMT | 3 | p21.31 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
| AN1 | 11 | p13 | ANIRIDIA 1 | Autism spectrum | |
| AN2 | 11 | p13 | ANIRIDIA 2 | Autism spectrum | |
| ANG | 14 | q11.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| ANGPTL4 | 19 | p13.2 | Type 2 Diabetes | Diabetes | |
| ANK2 | 4 | q25-q27 | Romano-Ward syndrome | Bradycardia (<60 beats/minute) | |
| ANK3 | 10 | q21 | Mental retardation autosomal recessive 37 (MRT37) | Autism spectrum | |
| ANKLE2 | 12 | q24 | Microcephaly - other | Microcephaly | |
| ANKRD11 | 16 | q24.3 | KBG Syndrome | Autism spectrum | |
| ANKRD30BP2 | 21 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
| ANO10 | 3 | p22.1 | Spinocerebellar ataxia autosomal recessive type 10 | Ataxia spectrum | |
| ANOS1 | 23 | p22.32 | Kallmann syndrome types 1 and 2 | Cleft lip / cleft palate | |
| AP3B1 | 5 | q14.1 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| AP3D1 | 19 | p13.3 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| AP4B1 | 1 | p13.2 | Cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder | Cerebral palsy | |
| AP4E1 | 15 | q21.2 | Cerebral palsy spastic quadriplegic type 4 (CPSQ4) disorder | Cerebral palsy | |
| AP4M1 | 7 | q22.1 | Cerebral palsy spastic quadriplegic type 3 (CPSQ3) disorder | Cerebral palsy | |
| AP4S1 | 14 | q12 | Cerebral palsy spastic quadriplegic type 6 (CPSQ6) disorder | Cerebral palsy | |
| APBB2 | 4 | p13 | Alzheimer - late onset | Alzheimer Syndrome | |
| APOC3 | 11 | q23.3 | Non-alcoholic fatty liver disease | Diabetes | |
| APOE | 19 | q13.2 | Alzheimer - late onset | Alzheimer Syndrome | |
| APP | 21 | q21.3 | hereditary cerebral amyloid angiopathy | Alzheimer Syndrome | |
| APP | 21 | q21.3 | Alzheimer - early onset | Alzheimer Syndrome | |
| APTX | 9 | p21.1 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
| AQP2 | 12 | q13.12 | Nephrogenic diabetes insipidus | Diabetes | |
| AR | 23 | q12 | Androgenetic alopecia | Alopecia | |
| ARFGEF2 | 20 | q13.13 | Periventricular heterotopia | Microcephaly | |
| ARG1 | 6 | q23.2 | Arginase deficiency | Ataxia spectrum | |
| ARHGAP32 | 11 | q24.3 | ALS | ALS - amyotrophic lateral sclerosis | |
| ARHGAP32 | 11 | q24.3 | Jacobsen syndrome | Autism spectrum | |
| ARHGEF9 | 23 | q11.1 | hereditary hyperekplexia | Epilepsy and seizures | |
| ARID1A | 1 | p36.11 | Microcephaly - other | Microcephaly | |
| ARID1B | 6 | q25.3 | Coffin-Siris syndrome 1 | Autism spectrum | |
| ARID1B | 6 | q25.3 | Microcephaly - other | Microcephaly | |
| ARID5B | 10 | q21.2 | Rheumatoid arthritis | Arthritis | |
| ARNTL | 11 | p15.3 | Seasonal affective disorder | Sleep disorders | |
| ARVCF | 22 | q11.21 | ARMADILLO REPEAT GENE DELETED IN VCFS | Autism spectrum | |
| ARX | 23 | p21.3 | Partington syndrome | Autism spectrum | |
| AS | 15 | q11.2 | ANGELMAN SYNDROME | Autism spectrum | |
| ASAH1 | 8 | p22 | Spinal muscular atrophy with progressive myoclonic epilepsy | Epilepsy and seizures | |
| ASH1L | 1 | q22 | Autism 18 (AUTS18) | Autism spectrum | |
| ASPG1 | 3 | q25-27 | Asperger syndrome - classical | Asperger`s | |
| ASPG2 | 17 | p13 | Asperger syndrome - classical | Asperger`s | |
| ASPG3 | 1 | q21-22 | Asperger syndrome - classical | Asperger`s | |
| ASPG4 | 3 | p24-21 | Asperger syndrome - classical | Asperger`s | |
| ASPGX1 | 23 | q13.1 | ASPERGER SYNDROME - X-LINKED | Autism spectrum | |
| ASPGX2 | 23 | p22.32-p22 | ASPERGER SYNDROME - X-LINKED | Autism spectrum | |
| ASPM | 1 | q31 | Autosomal recessive primary microcephaly | Microcephaly | |
| ASS1 | 9 | q34.11 | Citrullinemia | Ataxia spectrum | |
| ASXL3 | 18 | q12.1 | Bainbridge-Ropers syndrome | Autism spectrum | |
| ASXL3 | 18 | q12.1 | Thyroid disorders | Hypothyroidism | |
| ATCAY | 19 | p13.3 | Cerebellar ataxia cayman type | Ataxia spectrum | |
| ATG16L1 | 2 | q37.1 | Crohn Disease | Irritable Bowel Disorders | |
| ATM | 11 | q22.3 | Ataxia-telangiectasia | Ataxia spectrum | |
| ATN1 | 12 | p13.31 | Dentatorubral-pallidoluysian atrophy | Ataxia spectrum | |
| ATP10A | 15 | q12 | ATPase CLASS V TYPE 10A | Autism spectrum | |
| ATP1A2 | 1 | q23.2 | Sporadic hemiplegic migraine | Ataxia spectrum | |
| ATP1A3 | 19 | q13.2 | Rapid-onset dystonia parkinsonism | Panic phobia anxiety | |
| ATP13A2 | 1 | p36.13 | Parkinson disease type 9 | Parkinsonism | |
| ATP2A2 | 12 | q24.11 | Darier disease | Epilepsy and seizures | |
| ATP7A | 23 | q21.1 | Menkes syndrome. | Copper metabolism defects | |
| ATP7B | 13 | q14.3 | Wilson disease | Panic phobia anxiety | |
| ATP7B | 13 | q14.3 | Wilson Disease - copper | Copper metabolism defects | |
| ATP8A2 | 13 | q12.13 | Cerebellar ataxia mental retardation and dysequilibrium syndrome type 04 | Ataxia spectrum | |
| ATRX | 23 | q21.1 | Microcephaly - other | Microcephaly | |
| ATRX | 23 | q21.1 - al | Microcephaly - other | Microcephaly | |
| ATXN1 | 6 | p22.3 | Spinocerebellar ataxia type 01 | Ataxia spectrum | |
| ATXN10 | 22 | q13.31 | Spinocerebellar ataxia type 10 | Ataxia spectrum | |
| ATXN2 | 12 | q24.12 | ALS | ALS - amyotrophic lateral sclerosis | |
| ATXN2 | 12 | q24.12 | Parkinson disease susceptability | Parkinsonism |
| ATXN2 | 12 | q24.12 | Spinocerebellar ataxia type 02 | Ataxia spectrum | |
| ATXN3 | 14 | q32.12 | Spinocerebellar ataxia type 03 | Ataxia spectrum | |
| ATXN7 | 3 | p14.1 | Autosomal dominant cerebellar ataxias | Ataxia spectrum | |
| ATXN8OS | 13 | q21.33 | Spinocerebellar ataxia type 08 | Ataxia spectrum | |
| ATXN8OS | 13 | q21.33 | Parkinson disease susceptability | Parkinsonism |
| AUH | 9 | q22.31 | 3-methylglutaconyl-CoA hydratase deficiency | Ataxia spectrum | |
| AUTS1 | 7 | q22 | AUTISM | Autism spectrum | |
| AUTS10 | 7 | q36 | AUTISM | Autism spectrum | |
| AUTS11 | 1 | q41-q42 | AUTISM | Autism spectrum | |
| AUTS12 | 21 | p13-q11 | AUTISM | Autism spectrum | |
| AUTS13 | 12 | q14.2 | AUTISM | Autism spectrum | |
| AUTS14A | 16 | p11.2 | AUTS14A - 16p11.2 deletion syndrome | Autism spectrum | |
| AUTS14B | 16 | p11.2 | AUTS14B replication syndrome | Autism spectrum | |
| AUTS15 | 7 | q35-q36 | AUTISM | Autism spectrum | |
| AUTS16 | 3 | q24 | AUTISM | Autism spectrum | |
| AUTS17 | 11 | q13.3-q13. | AUTISM | Autism spectrum | |
| AUTS18 | 14 | q11.2 | AUTISM | Autism spectrum | |
| AUTS19 | 4 | q23 | AUTISM | Autism spectrum | |
| AUTS2 | 7 | q11.22 | Mental retardation autosomal dominant 26 (MRD26) | Autism spectrum | |
| AUTS2 | 7 | q11.22 | Early-onset androgenetic alopecia | Alopecia | |
| AUTS3 | 13 | q14.2-q14. | AUTISM | Autism spectrum | |
| AUTS4 | 15 | q11 | AUTISM | Autism spectrum | |
| AUTS6 | 17 | q11 | AUTISM | Autism spectrum | |
| AUTS7 | 17 | q21 | AUTISM | Autism spectrum | |
| AUTS8 | 3 | q25-q27 | AUTISM | Autism spectrum | |
| AUTS9 | 7 | q31 | AUTISM | Autism spectrum | |
| AUTSX1 | 23 | q13.1 | AUTISM - X-LINKED | Autism spectrum | |
| AUTSX2 | 23 | p22.32-p22 | AUTISM - X-LINKED | Autism spectrum | |
| AUTSX3 | 23 | q28 | AUTISM - X-LINKED | Autism spectrum | |
| AUTSX4 | 23 | p22.11 | AUTISM - X-LINKED | Autism spectrum | |
| AUTSX5 | 23 | q28 | AUTISM - X-LINKED | Autism spectrum | |
| AUTSX6 | 23 | q28 | AUTISM - X-LINKED | Autism spectrum | |
| AVP | 20 | p13 | neurohypophyseal diabetes insipidus | Diabetes | |
| AVPR2 | 23 | q28 | Nephrogenic diabetes insipidus | Diabetes | |