| Gene |
Location |
Syndrome |
Category |
| ABHD12 | p11.21 | Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC) | Cataracts | |
| CST3 | p11.21 | hereditary cerebral amyloid angiopathy | Alzheimer Syndrome | |
| RIN2 | p11.23 | Macrocephaly with alopecia and cutis laxa and scoliosis (MACS syndrome) | Alopecia | |
| SEC23B | p11.23 | Type 1 Diabetes | Diabetes | |
| PLCB4 | p12 | Auriculo-condylar syndrome | Cleft lip / cleft palate | |
| BFSP1 | p12.1 | Cataract 33 multiple types (CTRCT33) | Cataracts | |
| PROKR2 | p12.3 | Kallmann syndrome types 1 and 2 | Cleft lip / cleft palate | |
| CD40 | p12-13.2 | Alzheimer - late onset | Alzheimer Syndrome | |
| ADAM33 | p13 | Asthma-related traits (ASRT) | Asthma | |
| AVP | p13 | neurohypophyseal diabetes insipidus | Diabetes | |
| NOP56 | p13 | Spinocerebellar ataxia type 36 | Ataxia spectrum | |
| OCNDS | p13 | OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME | Autism spectrum | |
| PRNP | p13 | Huntington disease-like syndrome type 1 | Huntington`s disease spectrum | |
| PRNP | p13 | Wilson Disease - copper | Copper metabolism defects | |
| PRNP | p13 | Wilson disease | Panic phobia anxiety | |
| SLC52A3 | p13 | Brown-Vialetto-Van Laere syndrome (BVVLS) | Cerebral palsy | |
| TGM6 | p13 | Spinocerebellar ataxia type 35 | Ataxia spectrum | |
| WARBM4 | p13 | WARBURG MICRO SYNDROME 4 | Autism spectrum | |
| CHMP4B | q11.22 | Cataract 31 multiple types (CTRCT31) | Cataracts | |
| SAMHD1 | q11.23 | Microcephaly - other | Microcephaly | |
| SAMHD1 | q11.23 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| TOP1 | q12 | TOPOISOMERASE DNA I | Autism spectrum | |
| ADA | q13.12 | ADENOSINE DEAMINASE | Autism spectrum | |
| CD40 | q13.12 | Rheumatoid arthritis | Arthritis | |
| CD40 | q13.12 | Graves disease - overactive thyroid | Hyperthyroidism | |
| CTSA | q13.12 | Galactosialidosis | Ataxia spectrum | |
| HNF4A | q13.12 | Congenital hyperinsulinism | Diabetes | |
| HNF4A | q13.12 | Type 2 Diabetes | Diabetes | |
| HNF4A | q13.12 | Type 1 Diabetes | Diabetes | |
| SLC2A10 | q13.12 | Type 2 Diabetes | Diabetes | |
| ZNF335 | q13.12 | Microcephaly 10 primary autosomal recessive (MCPH10) | Microcephaly | |
| ADNP | q13.13 | Helsmoortel-van der Aa syndrome | Autism spectrum | |
| ARFGEF2 | q13.13 | Periventricular heterotopia | Microcephaly | |
| KCNB1 | q13.13 | Epileptic encephalopathy early infantile 26 | Epilepsy and seizures | |
| GNAS | q13.3 | McCune-Albright syndrome | Tachycardia (>100 beats/minute) | |
| GNAS | q13.32 | McCune-Albright syndrome (overactive thyroid) | Hyperthyroidism | |
| VAPB | q13.32 | ALS | ALS - amyotrophic lateral sclerosis | |
| CHRNA4 | q13.33 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
| DNAJC5 | q13.33 | CLN4 disease | Ataxia spectrum | |
| EEF1A2 | q13.33 | EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-2 | Autism spectrum | |
| EIEE33 | q13.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 33 | Autism spectrum | |
| KCNQ2 | q13.33 | Benign familial neonatal seizures | Epilepsy and seizures | |
| MRD38 | q13.33 | MENTAL RETARDATION AUTOSOMAL DOMINANT 38 | Autism spectrum | |