| Gene |
Location |
Syndrome |
Category |
| DESSH | p12.1 | Desanto-Shinawi syndrome | Autism spectrum | |
| PDSS1 | p12.1 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
| WAC | p12.1 | Desanto-Shinawi syndrome | Autism spectrum | |
| PTF1A | p12.2 | Zaki-Gleeson syndrome | Autism spectrum | |
| CUBN | p13 | Imerslund-Grasbeck syndrome | Vitamin B12 metabolism spectrum | |
| DCLRE1C | p13 | Omenn syndrome | Alopecia | |
| OPTN | p13 | ALS | ALS - amyotrophic lateral sclerosis | |
| PHYH | p13 | Refsum disease | Ataxia spectrum | |
| VIM | p13 | Cataract 30 multiple types (CTRCT30) | Cataracts | |
| GATA3 | p14 | Rheumatoid arthritis | Arthritis | |
| IL2RA | p15.1 | Graves disease - overactive thyroid | Hyperthyroidism | |
| IL2RA | p15.1 | Rheumatoid arthritis | Arthritis | |
| IL2RA | p15.1 | Type 1 Diabetes | Diabetes | |
| PRKCQ | p15.1 | Rheumatoid arthritis | Arthritis | |
| DIP2C | p15.3 | Autism 18 (AUTS18) | Autism spectrum | |
| MRD30 | p15.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 30 | Autism spectrum | |
| ZMYND11 | p15.3 | ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11 | Autism spectrum | |
| ALOX5 | q11.2 | Asthma-related traits (ASRT) | Asthma | |
| RET | q11.21 | Thyroid disorders | Hypothyroidism | |
| NCOA4 | q11.22 | Thyroid disorders | Hypothyroidism | |
| ERCC6 | q11.23 | Cockayne syndrome | Microcephaly | |
| ANK3 | q21 | Mental retardation autosomal recessive 37 (MRT37) | Autism spectrum | |
| ARID5B | q21.2 | Rheumatoid arthritis | Arthritis | |
| CCDC6 | q21.2 | Thyroid disorders | Hypothyroidism | |
| DNA2 | q21.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
| EGR2 | q21.3 | EARLY GROWTH RESPONSE 2 | Autism spectrum | |
| HPANBH4 | q21.3 | HYPERPHENYLALANINEMIA MILD NON-BH4-DEFICIENT | Autism spectrum | |
| JMJD1C | q21.3 | JUMONJI DOMAIN-CONTAINING PROTEIN 1C | Autism spectrum | |
| RPS24 | q22 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| EIF4EBP2 | q22.1 | EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2 | Autism spectrum | |
| NODAL | q22.1 | heterotaxy syndrome | Heterotaxy | |
| NODAL | q22.1 | Microcephaly - other | Microcephaly | |
| SLC29A3 | q22.1 | Type 1 Diabetes | Diabetes | |
| ADK | q22.2 | ADENOSINE KINASE | Autism spectrum | |
| KAT6B | q22.2 | Microcephaly - other | Microcephaly | |
| LRMDA | q22.2 | Oculocutaneous albinism - autosomal recessive | Photophobia - sensitivity to light | |
| PLAU | q22.2 | Alzheimer - late onset | Alzheimer Syndrome | |
| POLR3A | q22.3 | Pol III-related leukodystrophy | Ataxia spectrum | |
| RPS24 | q22.3 | Microcephaly - other | Microcephaly | |
| GLUD1 | q23.2 | Congenital hyperinsulinism | Diabetes | |
| LDB3 | q23.2 | Myofibrillar myopathy | Muscular dystrophies | |
| OPN4 | q23.2 | Seasonal affective disorder | Sleep disorders | |
| CWS1 | q23.31 | COWDEN SYNDROME 1 | Autism spectrum | |
| FAS | q23.31 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
| HTR7 | q23.31 | 5-HYDROXYTRYPTAMINE RECEPTOR 7 | Autism spectrum | |
| LIPN | q23.31 | Lamellar ichthyosis | Alopecia | |
| PTEN | q23.31 | Thyroid disorders | Hypothyroidism | |
| PTEN | q23.31 | Cowder Syndrome | Autism spectrum | |
| LGI1 | q23.33 | Autosomal dominant partial epilepsy with auditory features | Epilepsy and seizures | |
| PDE6C | q23.33 | Achromatopsia | Photophobia - sensitivity to light | |
| HPSE2 | q23-24 | Ochoa syndrome | Cerebral palsy | |
| ADCL3 | q24.1 | CUTIS LAXA AUTOSOMAL DOMINANT 3 | Autism spectrum | |
| ALDH18A1 | q24.1 | Cutis laxa autosomal recessive 3A (ARCL3A) | Cataracts | |
| CPN1 | q24.2 | Asthma-related traits (ASRT) | Asthma | |
| HPS1 | q24.2 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| CWF19L1 | q24.31 | Spinocerebellar ataxia autosomal recessive type 17 | Ataxia spectrum | |
| TWNK | q24.31 | Ataxia neuropathy spectrum | Ataxia spectrum | |
| FGF8 | q24.32 | Microcephaly - other | Microcephaly | |
| HOMGSMR1 | q24.32 | HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 1 | Autism spectrum | |
| HPS6 | q24.32 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| PITX3 | q24.32 | Anterior segment dysgenesis 1 (ASGD1) | Cataracts | |
| PITX3 | q24.32 | Cataract 11 multiple types (CTRCT11) | Cataracts | |
| SMC3 | q25 | Cornelia de Lange Syndrome | Autism spectrum | |
| COL17A1 | q25.1 | JEB Junctional epidermolysis bullosa | Alopecia | |
| ADRA2A | q25.2 | Familial partial lipodystrophy | Diabetes | |
| SHOC2 | q25.2 | Noonan syndrome-like disorder with loose anagen hair 1 | Autism spectrum | |
| SMC3 | q25.2 | Microcephaly - other | Microcephaly | |
| TCF7L2 | q25.2 | Gestational diabetes | Diabetes | |
| TCF7L2 | q25.2-3 | Diabetes mellitus type 2 | Autism spectrum | |
| HABP2 | q25.3 | Thyroid disorders | Hypothyroidism | |
| FGFR2 | q26 | Crouzon syndrome | Cleft lip / cleft palate | |
| VAX1 | q26.1 | Syndromic Microphthalmia | Cleft lip / cleft palate | |
| BAG3 | q26.11 | Myofibrillar myopathy | Muscular dystrophies | |
| HTRA1 | q26.13 | Cerebral autosomal recessive arteriopathy (CARASIL) | Alopecia | |
| OAT | q26.13 | Gyrate atrophy | Cataracts | |
| MMP21 | q26.2 | heterotaxy syndrome | Heterotaxy | |
| EBF3 | q26.3 | Hypotonia ataxia and delayed development syndrome | Autism spectrum | |