| Gene |
Location |
Syndrome |
Category |
| ADHD2 | p11 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| AKAP10 | p11.1 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
| KCNJ18 | p11.2 | Thyroid disorders | Hypothyroidism | |
| PTLS | p11.2 | Potocki-Lupski syndrome | Autism spectrum | |
| RAI1 | p11.2 | Potocki-Lupski syndrome | Autism spectrum | |
| RAI1 | p11.2 | Circadian rhythm disruption | Sleep disorders | |
| RAI1 | p11.2 | Smith-Magenis syndrome | Autism spectrum | |
| UBB | p11.2-12 | Alzheimer - late onset | Alzheimer Syndrome | |
| PMP22 | p12 | Hereditary neuropathy with liability to pressure palsies | Cerebral palsy | |
| ASPG2 | p13 | Asperger syndrome - classical | Asperger`s | |
| CHD3 | p13 | Snijders Blok-Campeau syndrome | Autism spectrum | |
| ACADVL | p13.1 | Very long-chain acyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| ACADVLD | p13.1 | ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF | Autism spectrum | |
| ALOX12 | p13.1 | Type 2 Diabetes | Diabetes | |
| ALOX12B | p13.1 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
| ALOXE3 | p13.1 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
| GUCY2D | p13.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| MYH13 | p13.1 | Arthrogryposis - other | Arthrogryposis spectrum | |
| MYH2 | p13.1 | Arthrogryposis - other | Arthrogryposis spectrum | |
| MYH3 | p13.1 | Freeman-Sheldon syndrome | Tachycardia (>100 beats/minute) | |
| MYH3 | p13.1 | Freeman-Sheldon or Sheldon-Hall | Arthrogryposis spectrum | |
| MYH8 | p13.1 | Distal arthrogryposis type 7 | Arthrogryposis spectrum | |
| MYH8 | p13.1 | Trismus-pseudocamptodactyly | Arthrogryposis spectrum | |
| NLGN2 | p13.1 | Pervasive Developmental Delay - not otherwise specified | Pervasive Developmental Delay | |
| PI3K | p13.1 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
| SLC2A4 | p13.1 | Type 2 Diabetes | Diabetes | |
| SNIBCPS | p13.1 | Snijders Blok-Campeau syndrome | Autism spectrum | |
| KDM6B | p13.1 | Autism 18 (AUTS18) | Autism spectrum | |
| AIPL1 | p13.2 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| CTNS | p13.2 | Cystinosis | Photophobia - sensitivity to light | |
| KIF1C | p13.2 | Spastic ataxia autosomal recessive type 02 | Ataxia spectrum | |
| NLRP1 | p13.2 | Type 1 Diabetes | Diabetes | |
| PFN1 | p13.2 | Huntington`s disease | Huntington`s disease spectrum | |
| LIS1 | p13.3 | LISSENCEPHALY 1 | Autism spectrum | |
| PAFAH1B1 | p13.3 | Microcephaly - other | Microcephaly | |
| WDR81 | p13.3 | Cerebellar ataxia mental retardation and dysequilibrium syndrome type 02 | Ataxia spectrum | |
| AUTS6 | q11 | AUTISM | Autism spectrum | |
| CRYBA1 | q11.2 | Cataract 10 multiple types (CTRCT10) | Cataracts | |
| FOXN1 | q11.2 | T-cell immunodeficiency congenital alopecia and nail dystrophy | Alopecia | |
| NF1 | q11.2 | neurofibromatosis type 1 | Neurofibromatosis | |
| RNF135 | q11.2 | RING FINGER PROTEIN 135 | Autism spectrum | |
| SLC46A1 | q11.2 | Hereditary folate malabsorption | Ataxia spectrum | |
| SLC6A4 | q11.2 | Alzheimer - late onset | Alzheimer Syndrome | |
| CCL11 | q12 | Asthma-related traits (ASRT) | Asthma | |
| GPIBD11 | q12 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 | Autism spectrum | |
| HNF1B | q12 | 17q12 deletion syndrome | Diabetes | |
| LHX1 | q12 | 17q12 deletion syndrome | Diabetes | |
| TAF15 | q12 | ALS | ALS - amyotrophic lateral sclerosis | |
| TPFS | q12 | TURNPENNY-FRY SYNDROME | Autism spectrum | |
| UNC45B | q12 | Cataract 43 (CTRCT43) | Cataracts | |
| IKZF3 | q12-q21.1 | Rheumatoid arthritis | Arthritis | |
| AUTS7 | q21 | AUTISM | Autism spectrum | |
| JUP | q21 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| MAPT | q21.1 | Progressive supranuclear palsy | Cerebral palsy | |
| THRA | q21.1 | Congenital hypothyroidism | Hypothyroidism | |
| KANSL1 | q21.13 | Koolen-de Vries syndrome | Epilepsy and seizures | |
| CAVIN1 | q21.2 | Type 2 Diabetes | Diabetes | |
| FKBP10 | q21.2 | Kuskokwim syndrome | Arthrogryposis spectrum | |
| HCRT | q21.2 | Narcolepsy | Sleep disorders | |
| HIES1 | q21.2 | HYPER-IgE RECURRENT INFECTION SYNDROME 1 AUTOSOMAL DOMINANT | Autism spectrum | |
| JUP | q21.2 | LCEB lethal congenital epidermolysis bullosa | Alopecia | |
| KRT12 | q21.2 | Meesmann corneal dystrophy | Photophobia - sensitivity to light | |
| KRT14 | q21.2 | NFJS/DPR Naegeli-Franceschetti-Jadassohn syndrome | Alopecia | |
| MPS3B | q21.2 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | Autism spectrum | |
| NAGLU | q21.2 | N-ACETYLGLUCOSAMINIDASE ALPHA- | Autism spectrum | |
| PSMC3IP | q21.2 | Thyroid disorders | Hypothyroidism | |
| RARA | q21.2 | Acute lymphoblastic leukemia | Leukemia | |
| SMARCE1 | q21.2 | Microcephaly - other | Microcephaly | |
| STAT3 | q21.2 | Crohn Disease | Irritable Bowel Disorders | |
| CDC6 | q21.3 | Meier-Gorlin syndrome | Microcephaly | |
| CONDBA | q21.31 | NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHY | Autism spectrum | |
| EFTUD2 | q21.31 | Mandibulofacial dysostosis with microcephaly | Microcephaly | |
| G6PC | q21.31 | Glycogen storage disease type I | Hyperlipidemia | |
| KDVS | q21.31 | Koolen-de Vries syndrome | Epilepsy and seizures | |
| MAPT | q21.31 | Parkinson-dementia syndrome | Parkinsonism |
| ITGB3 | q21.32 | INTEGRIN BETA-3 | Autism spectrum | |
| PNP0 | q21.32 | Pyridoxal 5`-phosphate-dependent epilepsy | Bradycardia (<60 beats/minute) | |
| PNPOD | q21.32 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | Autism spectrum | |
| TBX21 | q21.32 | Asthma with nasal polyps and aspirin intolerance (ANPAI) | Asthma | |
| RAD51C | q22 | Microcephaly - other | Microcephaly | |
| PTRH2 | q23.1 | Microcephaly - other | Microcephaly | |
| BRIP1 | q23.2 | Microcephaly - other | Microcephaly | |
| JDVS | q23.2 | JANSEN-DE VRIES SYNDROME | Autism spectrum | |
| MRD57 | q23.2 | Mental retardation autosomal dominant 57 | Autism spectrum | |
| TLK2 | q23.2 | Mental retardation autosomal dominant 57 | Autism spectrum | |
| VETD | q23.2 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | Autism spectrum | |
| MED13 | q23.2 | Autism 18 (AUTS18) | Autism spectrum | |
| ACE | q23.3 | Type 1 Diabetes | Diabetes | |
| ACE | q23.3 | Type 2 Diabetes | Diabetes | |
| POLG2 | q23.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
| STRADA | q23.3 | Polyhydramnios megalencephaly and symptomatic epilepsy | Epilepsy and seizures | |
| PSMD12 | q24.2 | Stankiewicz-Isidor syndrome | Autism spectrum | |
| STISS | q24.2 | Stankiewicz-Isidor syndrome | Autism spectrum | |
| AANAT | q25.1 | Sleep-wake schedule disorder - delayed phase type | Sleep disorders | |
| ACOX1 | q25.1 | Peroxisomal acyl-CoA oxidase deficiency | Epilepsy and seizures | |
| GALK1 | q25.1 | Galactosemia (type II) | Galactosemia | |
| ITGB4 | q25.1 | EB-PA Epidermolysis bullosa with pyloric atresia | Alopecia | |
| MRT44 | q25.1 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 44 | Autism spectrum | |
| TSEN54 | q25.1 | Pontocerebellar hypoplasia | Microcephaly | |
| ACTG1 | q25.3 | Baraitser-Winter syndrome | Autism spectrum | |
| GCGR | q25.3 | Type 2 Diabetes | Diabetes | |
| P4HB | q25.3 | Thyroid disorders | Hypothyroidism | |
| SLC25A19 | q25.3 | Amish lethal microcephaly | Microcephaly | |