| Gene |
Location |
Syndrome |
Category |
| PHF21A | p11 | Potocki-Shaffer syndrome | Autism spectrum | |
| ALX4 | p11.2 | Potocki-Shaffer syndrome | Autism spectrum | |
| CDG2C | p11.2 | CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc | Autism spectrum | |
| CRY2 | p11.2 | Seasonal affective disorder | Sleep disorders | |
| MAPK8IP1 | p11.2 | Type 2 Diabetes | Diabetes | |
| RAPSN | p11.2 | Microcephaly - other | Microcephaly | |
| RAPSN | p11.2 | Arthrogryposis - other | Arthrogryposis spectrum | |
| EXT2 | p11-12 | Potocki-Shaffer syndrome | Autism spectrum | |
| RAG1 | p12 | Omenn syndrome | Alopecia | |
| RAG2 | p12 | Omenn syndrome | Alopecia | |
| TRAF6 | p12 | Rheumatoid arthritis | Arthritis | |
| AN1 | p13 | ANIRIDIA 1 | Autism spectrum | |
| AN2 | p13 | ANIRIDIA 2 | Autism spectrum | |
| BDNF | p13 | WAGR Syndrome | Autism spectrum | |
| CAT | p13 | Type 2 Diabetes | Diabetes | |
| CAT | p13 | Acatalasemia | Hyperlipidemia | |
| ELP4 | p13 | ELONGATOR ACETYLTRANSFERASE COMPLEX SUBUNIT 4 | Autism spectrum | |
| NAT10 | p13 | heterotaxy syndrome | Heterotaxy | |
| PAX6 | p13 | WAGR Syndrome | Autism spectrum | |
| PAX6 | p13 | aniridia | Photophobia - sensitivity to light | |
| PAX6 | p13 | Gillespie syndrome | Ataxia spectrum | |
| PDHX | p13 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
| WT1 | p13 | WAGR Syndrome | Autism spectrum | |
| FSHB | p14.1 | Thyroid disorders | Hypothyroidism | |
| FANCF | p14.3 | Microcephaly - other | Microcephaly | |
| ABCC8 | p15.1 | Congenital hyperinsulinism | Diabetes | |
| ABCC8 | p15.1 | Permanent neonatal diabetes mellitus | Diabetes | |
| HPS5 | p15.1 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
| KCNJ11 | p15.1 | Congenital hyperinsulinism | Diabetes | |
| KCNJ11 | p15.1 | Gestational diabetes | Diabetes | |
| KCNJ11 | p15.1 | Permanent neonatal diabetes mellitus | Diabetes | |
| SLC6A5 | p15.1 | hereditary hyperekplexia | Epilepsy and seizures | |
| ARNTL | p15.3 | Seasonal affective disorder | Sleep disorders | |
| FAR1 | p15.3 | Microcephaly - other | Microcephaly | |
| CDKN1C | p15.4 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
| PGAP2 | p15.4 | Mabry syndrome | Autism spectrum | |
| SMPD1 | p15.4 | Niemann-Pick disease | Ataxia spectrum | |
| TPP1 | p15.4 | Neuronal ceroid lipofuscinosis disease type 2 | Ataxia spectrum | |
| VMLDS1 | p15.4 | VAN MALDERGEM SYNDROME 1 | Autism spectrum | |
| CSTLO | p15.5 | COSTELLO SYNDROME | Autism spectrum | |
| CTSD | p15.5 | Congenital neuronal ceroid lipofuscinosis (NCL) | Microcephaly | |
| DEAF1 | p15.5 | DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOG | Autism spectrum | |
| DRD4 | p15.5 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
| DYSEIDD | p15.5 | DYSKINESIA SEIZURES AND INTELLECTUAL DEVELOPMENTAL DISORDER | Autism spectrum | |
| H19 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
| HRAS | p15.5 | Thyroid disorders | Hypothyroidism | |
| ICR1 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
| INS | p15.5 | Permanent neonatal diabetes mellitus | Diabetes | |
| INS | p15.5 | Type 1 Diabetes | Diabetes | |
| KCNQ1 | p15.5 | Gestational diabetes | Diabetes | |
| KCNQ1OT1 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
| MRD24 | p15.5 | MENTAL RETARDATION AUTOSOMAL DOMINANT 24 | Autism spectrum | |
| MUC2 | p15.5 | Crohn Disease | Irritable Bowel Disorders | |
| MUC2 | p15.5 | Ulcerative colitis | Irritable Bowel Disorders | |
| PNPLA2 | p15.5 | Neutral lipid storage disease with myopathy | Hypothyroidism | |
| PNPLA2 | p15.5 | Type 2 Diabetes | Diabetes | |
| TH | p15.5 | Tyrosine hydroxylase deficiency | Panic phobia anxiety | |
| TNNI2 | p15.5 | Distal arthrogryposis type 2B (Sheldon-Hall syndrome) | Arthrogryposis spectrum | |
| TNNT3 | p15.5 | Distal arthrogryposis type 2B (Sheldon-Hall syndrome) | Arthrogryposis spectrum | |
| GGT1 | q11.23 | gamma-Glutamyltransferase deficiency | Polymorphous light eruption | |
| CLP1 | q12 | Pontocerebellar hypoplasia | Microcephaly | |
| GIF | q12.1 | Hereditary intrinsic factor deficiency | Vitamin B12 metabolism spectrum | |
| CD5 | q12.2 | Rheumatoid arthritis | Arthritis | |
| BEST1 | q12.3 | Autosomal dominant vitreoretinochoroidopathy (ADVIRC) | Cataracts | |
| YAP1 | q13 | Yes associated protein 1 malformation | Cleft lip / cleft palate | |
| NRXN2 | q13.1 | Pervasive Developmental Delay - not otherwise specified | Pervasive Developmental Delay | |
| PACS1 | q13.1 | PACS1 syndrome | Autism spectrum | |
| RNASEH2C | q13.1 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| RNASEH2C | q13.1 | Microcephaly - other | Microcephaly | |
| SHMS | Q13.1-13.2 | SCHUURS-HOEIJMAKERS SYNDROME | Autism spectrum | |
| B4GAT1 | q13.2 | Walker-Warburg syndrome | Microphthalmia | |
| KMT5B | q13.2 | SHANK2 Deletion Syndrome | Autism spectrum | |
| SHANK2 | q13.2 | SHANK2 Deletion Syndrome | Autism spectrum | |
| SPTBN2 | q13.2 | Spinocerebellar ataxia autosomal recessive type 14 | Ataxia spectrum | |
| SPTBN2 | q13.2 | Spinocerebellar ataxia type 05 | Ataxia spectrum | |
| UNC93B1 | q13.2 | Herpes simplex encephalitis 1 (HSE1) | Encephalitis | |
| MRD51 | q13.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 51 | Autism spectrum | |
| CPT1A | q13.3 | Carnitine palmitoyltransferase I deficiency | Reye`s Syndrome-like diseases | |
| AUTS17 | q13.3-q13. | AUTISM | Autism spectrum | |
| CLPB | q13.4 | CLPB deficiency | Cataracts | |
| DHCR7 | q13.4 | Smith-Lemli-Opitz syndrome | Autism spectrum | |
| DHCR7 | q13.4 | Microcephaly - other | Microcephaly | |
| FOLR1 | q13.4 | Cerebral folate transport deficiency | Ataxia spectrum | |
| SLOS | q13.4 | Smith-Lemli-Opitz syndrome | Autism spectrum | |
| UCP2 | q13.4 | Congenital hyperinsulinism | Diabetes | |
| MED17 | q14 | Microcephaly postnatal progressive with seizures and brain atrophy | Microcephaly | |
| PICALM | q14 | Alzheimer - late onset | Alzheimer Syndrome | |
| GRM5 | q14.2-q14. | GLUTAMATE RECEPTOR METABOTROPIC 5 | Autism spectrum | |
| MTNR1B | q14.3 | Gestational diabetes | Diabetes | |
| TYR | q14.3 | Oculocutaneous albinism type 1 | Photophobia - sensitivity to light | |
| MED17 | q21 | Thyroid disorders | Hypothyroidism | |
| ATM | q22.3 | Ataxia-telangiectasia | Ataxia spectrum | |
| CRYAB | q23.1 | Myofibrillar myopathy | Muscular dystrophies | |
| DLAT | q23.1 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
| SDHD | q23.1 | Thyroid disorders | Hypothyroidism | |
| SORL1 | q23.2-24.2 | Alzheimer - late onset | Alzheimer Syndrome | |
| APOC3 | q23.3 | Non-alcoholic fatty liver disease | Diabetes | |
| CD3e | q23.3 | Type 1 Diabetes | Diabetes | |
| ETS1 | q23.3 | Jacobsen syndrome | Autism spectrum | |
| IL10RA | q23.3 | Ulcerative colitis | Irritable Bowel Disorders | |
| KMT2A | q23.3 | Wiedemann-Steiner syndrome | Autism spectrum | |
| MFRP | q23.3 | Microphthalmia isolated 5 (MCOP5) | Microphthalmia | |
| PVRL1 | q23.3 | Non-syndromic orofacial cleft 7 | Cleft lip / cleft palate | |
| SLC37A4 | q23.3 | Glycogen storage disease type I | Hyperlipidemia | |
| SRMMD | q23.3 | SHORT STATURE RHIZOMELIC WITH MICROCEPHALY MICROGNATHIA AND DELAY | Autism spectrum | |
| WDSTS | q23.3 | Wiedemann-Steiner syndrome | Autism spectrum | |
| FLI1 | q24.1-24.3 | Jacobsen syndrome | Autism spectrum | |
| HEPACAM | q24.2 | Megalencephalic leukoencephalopathy with subcortical cysts type 02 | Ataxia spectrum | |
| MLC2A | q24.2 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | Autism spectrum | |
| MLC2B | q24.2 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B | Autism spectrum | |
| ROBO3 | q24.2 | Horizontal gaze palsy with progressive scoliosis (HGPPS) | Cerebral palsy | |
| ARHGAP32 | q24.3 | Jacobsen syndrome | Autism spectrum | |
| ARHGAP32 | q24.3 | ALS | ALS - amyotrophic lateral sclerosis | |
| JAM3 | q25 | Hemorrhagic destruction of the brain with cataracts (HDBSCC) | Cataracts | |