| Gene |
Location |
Syndrome |
Category |
| ACTR3BP2 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
| GGT8P | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
| LOC654342 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
| Mir_544 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
| EIF2AK3 | p11.2 | Zaki-Gleeson syndrome | Autism spectrum | |
| ST3GAL5 | p11.2 | GM3 synthase deficiency | Epilepsy and seizures | |
| SPR | p12-p14 | Sepiapterin reductase deficiency | Microcephaly | |
| PARK3 | p13 | Parkinson disease autosomal dominant | Parkinsonism |
| ALMS1 | p13.1 | Alstrom syndrome | Diabetes | |
| DCTN1 | p13.1 | ALS | ALS - amyotrophic lateral sclerosis | |
| HTRA2 | p13.1 | Parkinson disease 13 | Parkinsonism |
| STAMBP | p13.1 | Microcephaly-capillary malformation syndrome | Microcephaly | |
| MCEE | p13.3 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
| MEIS1 | p14 | Restless legs syndrome | Sleep disorders | |
| SLC1A4 | p14 | Microcephaly - other | Microcephaly | |
| SPRED2 | p14 | ALS | ALS - amyotrophic lateral sclerosis | |
| SPRED2 | p14 | Rheumatoid arthritis | Arthritis | |
| BCL11A | p16.1 | Intellectual developmental disorder with persistence of fetal hemoglobin | Autism spectrum | |
| FANCL | p16.1 | Microcephaly - other | Microcephaly | |
| REL | p16.1 | Rheumatoid arthritis | Arthritis | |
| REL | p16.1 | Ulcerative colitis | Irritable Bowel Disorders | |
| IDDFBA | p16.3 | INTELLECTUAL DEVELOPMENTAL DISORDER 3 | Autism spectrum | |
| NRXN1 | p16.3 | Pitt-Hopkins syndrome | Autism spectrum | |
| NRXN1 | p16.3 | Pitt-Hopkins-like syndrome 2 | Autism spectrum | |
| NTXN1 | p16.3 | Schizophrenia 17 | Schizophrenia | |
| PTHSL2 | p16.3 | Pitt-Hopkins-like syndrome 2 | Autism spectrum | |
| CALM2 | p21 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
| CRIPT | p21 | Short stature with microcephaly and distinctive facies (SSMF) | Microcephaly | |
| SIX3 | p21 | Microcephaly - other | Microcephaly | |
| SIX3 | p21 | Nonsyndromic holoprosencephaly | Cleft lip / cleft palate | |
| SLC3A1 | p21 | CYSTINURIA TYPE A | Autism spectrum | |
| THADA | p21 | Thyroid disorders | Hypothyroidism | |
| SOS1 | p22.1 | Noonan syndrome | Autism spectrum | |
| SPAST | p22.3 | Spastic paraplegia | Autism spectrum | |
| PPP1CB | p23.2 | Noonan syndrome-like disorder with loose anagen hair 2 | Autism spectrum | |
| ADCY3 | p23.3 | Autism 18 (AUTS18) | Autism spectrum | |
| DNMT3A | p23.3 | Tatton-Brown-Rahman syndrome | Asthma | |
| GCKR | p23.3 | Type 2 Diabetes | Diabetes | |
| GCKR | p23.3 | Non-alcoholic fatty liver disease | Diabetes | |
| HADHA | p23.3 | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| HADHA | p23.3 | Mitochondrial trifunctional protein deficiency | Reye`s Syndrome-like diseases | |
| HADHB | p23.3 | Mitochondrial trifunctional protein deficiency | Reye`s Syndrome-like diseases | |
| IFT172 | p23.3 | Short-rib thoracic dysplasia 13 | Cleft lip / cleft palate | |
| SHAPNS | p23.3 | SHASHI-PENA SYNDROME | Autism spectrum | |
| MYCN | p24.3 | Feingold syndrome | Microcephaly | |
| RPS7 | p25 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| ADAM17 | p25.1 | Crohn Disease | Irritable Bowel Disorders | |
| KLF11 | p25.1 | Type 2 Diabetes | Diabetes | |
| LPIN1 | p25.1 | Type 2 Diabetes | Diabetes | |
| COLEC11 | p25.3 | Carnevale syndrome | Cleft lip / cleft palate | |
| MRD39 | p25.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 39 | Autism spectrum | |
| MYT1L | p25.3 | Mental retardation autosomal dominant 37 (MRD37) | Autism spectrum | |
| RNASEH1 | p25.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
| RPS7 | p25.3 | Microcephaly - other | Microcephaly | |
| TPO | p25.3 | Congenital hypothyroidism | Hypothyroidism | |
| AFF3 | q11.2 | Rheumatoid arthritis | Arthritis | |
| CNGA3 | q11.2 | Achromatopsia | Photophobia - sensitivity to light | |
| LIPT1 | q11.2 | Lipoyltransferase 1 deficiency | Bradycardia (<60 beats/minute) | |
| NPAS2 | q11.2 | Seasonal affective disorder | Sleep disorders | |
| VWA3B | q11.2 | Spinocerebellar ataxia autosomal recessive type 22 | Ataxia spectrum | |
| RANBP2 | q13 | Acute necrotizing encephalopathy type 1 | Encephalitis | |
| CKAP2L | q14.1 | Microcephaly - other | Microcephaly | |
| PAX8 | q14.1 | Congenital hypothyroidism | Hypothyroidism | |
| GLI2 | q14.2 | Microcephaly - other | Microcephaly | |
| STEAP3 | q14.2 | Hypochromic microcytic anemia with iron overload 2 (AHMIO2) | Copper metabolism defects | |
| CLASP1 | q14.3 | Autism 18 (AUTS18) | Autism spectrum | |
| LCT | q21 | Lactase deficiency | Lactose intolerance | |
| MCM6 | q21 | Lactase deficiency | Lactose intolerance | |
| CFC1 | q21.1 | heterotaxy syndrome | Heterotaxy | |
| CXCR4 | q22.1 | Waldenström macroglobulinemia | Ataxia spectrum | |
| ZEB2 | q22.3 | Mowat-Wilson syndrome | Microcephaly | |
| ORC4 | q22-23 | Meier-Gorlin syndrome | Microcephaly | |
| KIF5C | q23.1 | Cortical dysplasia with other brain malformations 2 (CDCBM2) | Arthrogryposis spectrum | |
| MBD5 | q23.1 | Microcephaly - other | Microcephaly | |
| MRD1 | q23.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 1 | Autism spectrum | |
| MMADHC | q23.2 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
| MMSDHC | q23.2 | Microcephaly - other | Microcephaly | |
| CACNB4 | q23.3 | Juvenile myoclonic epilepsy | Epilepsy and seizures | |
| CACNB4 | q23.3 | Episodic ataxia | Ataxia spectrum | |
| ABCB11 | q24 | Intraheptic cholestasis | Bradycardia (<60 beats/minute) | |
| SCN9A | q24 | Small fiber neuropathy | Tachycardia (>100 beats/minute) | |
| SLC25A12 | q24 | Global cerebral hypomyelination | Autism spectrum | |
| NR4A2 | q24.1 | Thyroid disorders | Hypothyroidism | |
| BAZ2B | q24.2 | Narcissistic Personality Disorder | Pervasive Developmental Delay | |
| IDDAS | q24.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 1 | Autism spectrum | |
| IFIH1 | q24.2 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| TBR1 | q24.2 | Autism 18 (AUTS18) | Autism spectrum | |
| EIEE11 | q24.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 11 | Autism spectrum | |
| EIEE6 | q24.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 6 | Autism spectrum | |
| FFEVF4 | q24.3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 4 | Autism spectrum | |
| SCN1A | q24.3 | Microcephaly - other | Microcephaly | |
| SCN1A | q24.3 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
| SCN2A | q24.3 | Paroxysmal extreme pain disorder | Bradycardia (<60 beats/minute) | |
| SCN2A | q24.3 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
| SCN9A | q24.3 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
| GAD1 | q31 | Cerebral palsy spastic quadriplegic type 1 (CPSQ1) disorder | Cerebral palsy | |
| CHRNA1 | q31.1 | Microcephaly - other | Microcephaly | |
| CHRNA1 | q31.1 | Congenital myasthenic syndrome | Arthrogryposis spectrum | |
| DCAF17 | q31.1 | Woodhouse-Sakati syndrome | Hypothyroidism | |
| DCAF17 | q31.1 | Woodhouse-Sakati syndrome with alopecia totalis | Alopecia | |
| DCAF17 | q31.1 | Woodhouse-Sakati syndrome - diabetes mellitus | Diabetes | |
| DLX1 | q31.1 | DISTAL-LESS HOMEOBOX 1 | Autism spectrum | |
| DLX2 | q31.1 | DISTAL-LESS HOMEOBOX 2 | Autism spectrum | |
| ITGA6 | q31.1 | EB-PA Epidermolysis bullosa with pyloric atresia | Alopecia | |
| LRP2 | q31.1 | LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2 | Autism spectrum | |
| RAPGEF4 | q31.1 | LESCH-NYHAN SYNDROME | Autism spectrum | |
| AGPS | q31.2 | Rhizomelic chondrodysplasia punctata type 3 | Rhizomelic chondrodysplasia punctata | |
| NEUROD1 | q31.3 | Type 2 Diabetes | Diabetes | |
| NCKAP1 | q32.1 | Alzheimer - late onset | Alzheimer Syndrome | |
| STAT1 | q32.2 | familial candidiasis (yeast infections) | Encephalitis | |
| STAT4 | q32.2-3 | Rheumatoid arthritis | Arthritis | |
| HECW2 | q32.3 | Neurodevelopmental disorder with hypotonia seizures and absent language | Epilepsy and seizures | |
| NDHSAL | q32.3 | NEURODEVELOPMENTAL DISORDER 03 | Autism spectrum | |
| CTLA4 | q33 | Graves Disease | Bradycardia (<60 beats/minute) | |
| SUMO1 | q33 | Non-syndromic orofacial cleft 10 | Cleft lip / cleft palate | |
| ALS2 | q33.1 | ALS | ALS - amyotrophic lateral sclerosis | |
| CASP10 | q33.1 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
| CASP8 | q33.1 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
| CASP8 | q33.1 | Huntington`s disease | Huntington`s disease spectrum | |
| MARS2 | q33.1 | Spastic ataxia autosomal recessive type 03 | Ataxia spectrum | |
| NDUFB3 | q33.1 | Mitochondrial complex I deficiency | Vitamin B12 metabolism spectrum | |
| CD28 | q33.2 | Rheumatoid arthritis | Arthritis | |
| CTLA4 | q33.2 | Type 1 Diabetes | Diabetes | |
| CTLA4 | q33.2 | Graves disease - overactive thyroid | Hyperthyroidism | |
| CTLA4 | q33.2 | Hashimoto thyroiditis | Hypothyroidism | |
| CTLA4 | q33.2 | Rheumatoid arthritis | Arthritis | |
| CRYGB | q33.3 | Cataract 39 multiple types (CTRCT39) | Cataracts | |
| CRYGC | q33.3 | Cataract 02 multiple types (CTRCT2) | Cataracts | |
| CRYGD | q33.3 | Cataract 04 multiple types (CTRCT4) | Cataracts | |
| ERBB4 | q34 | ALS | ALS - amyotrophic lateral sclerosis | |
| MAP2 | q34 | MICROTUBULE-ASSOCIATED PROTEIN 2 | Autism spectrum | |
| ABCA12 | q35 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
| ABCA12 | q35 | Lamellar ichthyosis | Alopecia | |
| CYP27A1 | q35 | cerebrotendinous xanthomatosis | Epilepsy and seizures | |
| DES | q35 | Myofibrillar myopathy | Muscular dystrophies | |
| FEV | q35 | Depression anxiety and eating disorders | Panic phobia anxiety | |
| PTPRN | q35 | insulin-dependent diabetes mellitus | Diabetes | |
| SLC11A1 | q35 | Crohn Disease | Irritable Bowel Disorders | |
| SMARCAL1 | q35 | Schimke immuno-osseous dysplasia | Hypothyroidism | |
| TUBA4A | q35 | ALS | ALS - amyotrophic lateral sclerosis | |
| GPC1 | q35-37 | Alzheimer - late onset | Alzheimer Syndrome | |
| CUL3 | q36.2 | Pseudohypoaldosteronism type IIE | Autism spectrum | |
| IRS1 | q36.3 | Gestational diabetes | Diabetes | |
| MRD49 | q36.3 | Mental retardation autosomal dominant 49 | Autism spectrum | |
| SLC19A3 | q36.3 | Biotin-thiamine-responsive basal ganglia disease | Ataxia spectrum | |
| SLI5 | q36.3 | SPECIFIC LANGUAGE IMPAIRMENT 5 | Autism spectrum | |
| TRIP12 | q36.3 | Mental retardation autosomal dominant 49 | Autism spectrum | |
| several | q37 | Albright hereditary osteodystrophy-like syndrome | Autism spectrum | |
| ATG16L1 | q37.1 | Crohn Disease | Irritable Bowel Disorders | |
| CHRND | q37.1 | Congenital myasthenic syndrome | Arthrogryposis spectrum | |
| CHRND | q37.1 | Microcephaly - other | Microcephaly | |
| CHRNG | q37.1 | Microcephaly - other | Microcephaly | |
| CHRNG | q37.1 | Multiple pterygium syndrome | Arthrogryposis spectrum | |
| ECEL1 | q37.1 | Distal arthrogryposis type 5 | Arthrogryposis spectrum | |
| GIGYF2 | q37.1 | Parkinson Disease type 11 | Parkinsonism | |
| PRSS56 | q37.1 | Microphthalmia syndromic 6 (MCOPS6) | Microphthalmia | |
| CAPN10 | q37.3 | Type 2 Diabetes | Diabetes | |
| D2HGDH | q37.3 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
| HDAC4 | q37.3 | Brachydactyly-mental retardation syndrome | Autism spectrum | |
| PER2 | q37.3 | Seasonal affective disorder | Sleep disorders | |
| PER2 | q37.3 | Autism 18 (AUTS18) | Autism spectrum | |