| Gene |
Location |
Syndrome |
Category |
| APBB2 | p13 | Alzheimer - late onset | Alzheimer Syndrome | |
| UCHL1 | p13 | Parkinson disease - other | Parkinsonism |
|
| RBPJ | p15.2 | Rheumatoid arthritis | Arthritis | |
| SEPSECS | p15.2 | Pontocerebellar hypoplasia | Microcephaly | |
| SEPSECS | p15.2 | Thyroid disorders | Hypothyroidism | |
| AB059369 | p16.1 | Autism 18 (AUTS18) | Autism spectrum | |
| DRD5 | p16.1 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| MIR548I2 | p16.1 | Autism 18 (AUTS18) | Autism spectrum | |
| PPP2R2C | p16.1 | PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT B GAMMA ISOFORM | Autism spectrum | |
| WFS1 | p16.1 | Wolfram syndrome | Ataxia spectrum | |
| WFS1 | p16.1 | Wolfram syndrome - diabetes mellitus | Diabetes | |
| WFSL | p16.1 | WOLFRAM-LIKE SYNDROME AUTOSOMAL DOMINANT | Autism spectrum | |
| MSX1 | p16.2 | Wolf-Hirschhorn syndrome | Cleft lip / cleft palate | |
| MSX1 | p16.2 | Microcephaly - other | Microcephaly | |
| BC042823 | p16.3 | Autism 18 (AUTS18) | Autism spectrum | |
| DQ584669 | p16.3 | Autism 18 (AUTS18) | Autism spectrum | |
| FAM86EP | p16.3 | Autism 18 (AUTS18) | Autism spectrum | |
| FGFR3 | p16.3 | Crouzon syndrome | Cleft lip / cleft palate | |
| HTT | p16.3 | Huntington`s disease | Huntington`s disease spectrum | |
| LETM1 | p16.3 | Microcephaly - other | Microcephaly | |
| LETM1 | p16.3 | Wolf-Hirschhorn syndrome | Cleft lip / cleft palate | |
| MRT53 | p16.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 53 | Autism spectrum | |
| NSD2 | p16.3 | Microcephaly - other | Microcephaly | |
| OTOP1 | p16.3 | Autism 18 (AUTS18) | Autism spectrum | |
| WHSC1 | p16.3 | Wolf-Hirschhorn syndrome | Cleft lip / cleft palate | |
| CEP135 | q12 | Microcephaly 08 primary autosomal recessive (MCPH8) | Microcephaly | |
| CLOCK | q12 | Seasonal affective disorder | Sleep disorders | |
| IGFBP7 | q12 | Familial retinal arterial macroaneurysm | Tachycardia (>100 beats/minute) | |
| UGT2B15 | q13.2 | Autism 18 (AUTS18) | Autism spectrum | |
| UGT2B17 | q13.2 | Autism 18 (AUTS18) | Autism spectrum | |
| AFP | q13.3 | Alpha-fetoprotein hereditary persistence (HPAFP) | Copper metabolism defects | |
| MUC7 | q13.3 | Asthma-related traits (ASRT) | Asthma | |
| SCARB2 | q21.1 | Action myoclonus renal failure | Panic phobia anxiety | |
| SCARB2 | q21.1 | Action myoclonus–renal failure syndrome | Epilepsy and seizures | |
| SHROOM3 | q21.1 | heterotaxy syndrome | Heterotaxy | |
| FRAS1 | q21.21 | Fraser syndrome | Cleft lip / cleft palate | |
| COQ2 | Q21.22 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
| COQ2 | q21.22 | Multiple system atrophy | Ataxia spectrum | |
| WDFY3 | q21.23 | Autism 18 (AUTS18) | Autism spectrum | |
| AFF1 | q21.3 | Fragile XE syndrome | Autism spectrum | |
| GFAP | q21.31 | Alexander disease | Ataxia spectrum | |
| SNCA | q22.1 | Parkinson disease - other |
Parkinsonism | |
| SNCA | q22.1 | Multiple system atrophy | Ataxia spectrum | |
| GRID2 | q22.1-2 | Spinocerebellar ataxia autosomal recessive type 18 | Ataxia spectrum | |
| ADH1C | q23 | Parkinson disease susceptability | Parkinsonism |
| AUTS19 | q23 | AUTISM | Autism spectrum | |
| EIF4E | q23 | Eukaryotic translation error syndrome | Autism spectrum | |
| MTTP | q23 | Abetalipoproteinemia | Ataxia spectrum | |
| TRMT10A | q23 | Microcephaly short stature and impaired glucose metabolism | Microcephaly | |
| CISD2 | q24 | Wolfram syndrome - diabetes mellitus | Diabetes | |
| CISD2 | q24 | Wolfram syndrome | Ataxia spectrum | |
| IECEE1 | q24 | EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 1 | Autism spectrum | |
| TBCK | q24 | Hypotonia infantile with psychomotor retardation and characteristic facies 3 | Autism spectrum | |
| CENPE | q24-q25 | Microcephaly 13 primary autosomal recessive (MCPH13) | Microcephaly | |
| COL25A1 | q25 | Alzheimer - late onset | Alzheimer Syndrome | |
| HADH | q25 | Congenital hyperinsulinism | Diabetes | |
| HADH | q25 | 3-hydroxyacyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| ANK2 | q25-q27 | Romano-Ward syndrome | Bradycardia (<60 beats/minute) | |
| IL2 | q27 | Rheumatoid arthritis | Arthritis | |
| IL2 | q27 | Ulcerative colitis | Irritable Bowel Disorders | |
| IL21 | q27 | Rheumatoid arthritis | Arthritis | |
| PRDM5 | q27 | Autism 18 (AUTS18) | Autism spectrum | |
| MRT29 | q27-q28.2 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 29 | Autism spectrum | |
| PLK4 | q28 | Microcephaly and chorioretinopathy autosomal recessive 2 (MCCRP2) | Microcephaly | |
| FAT4 | q28.1 | Microcephaly - other | Microcephaly | |
| SPATA5 | q28.1 | Epilepsy hearing loss and mental retardation syndrome | Epilepsy and seizures | |
| MFSD8 | q28.2 | CLN7 disease | Ataxia spectrum | |
| PCDH10 | q28.3 | PROTOCADHERIN 10 | Autism spectrum | |
| MRD50 | q31.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 50 | Autism spectrum | |
| NAA15 | q31.1 | Autism 18 (AUTS18) | Autism spectrum | |
| MMAA | q31.21 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
| MAB21L2 | q31.3 | MAB21 C. ELEGANS HOMOLOG-LIKE 2 | Autism spectrum | |
| MCSKS | q31.3 | MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME | Autism spectrum | |
| GLRB | q32.1 | hereditary hyperekplexia | Epilepsy and seizures | |
| LRAT | q32.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| NEK1 | q33 | Short-rib thoracic dysplasia 13 | Cleft lip / cleft palate | |
| SLC25A4 | q35.1 | Progressive external ophthalmoplegia | Ataxia spectrum | |