| Gene |
Location |
Syndrome |
Category |
| CHCHD2 | p11.2 | Parkinson disease autosomal dominant | Parkinsonism |
| ZNF713 | p11.2 | Zinc Fingers syndrome | Autism spectrum | |
| SEMA3A | p12.1 | Alzheimer - late onset | Alzheimer Syndrome | |
| GCK | p13 | Congenital hyperinsulinism | Diabetes | |
| GCK | p13 | Permanent neonatal diabetes mellitus | Diabetes | |
| GCK | p13 | Gestational diabetes | Diabetes | |
| MRD54 | p13 | MENTAL RETARDATION AUTOSOMAL DOMINANT 54 | Autism spectrum | |
| CHDFIDD | p14.1 | CONGENITAL HEART DEFECTS DYSMORPHIC FACIAL FEATURES | Autism spectrum | |
| NPSR1 | p14.3 | Asthma-related traits 2 (ASRT2) | Asthma | |
| HOXA1 | p15.2 | HOMEOBOX A1 AND MENTAL RETARDATION 2 | Autism spectrum | |
| DNAH11 | p15.3 | heterotaxy syndrome | Heterotaxy | |
| FAM126A | p15.3 | Hypomyelination and congenital cataract | Cataracts | |
| IL6 | p15.3 | Type 1 Diabetes | Diabetes | |
| ISPD | p21.2 | Walker-Warburg syndrome | Microphthalmia | |
| ACTB | p22.1 | Baraitser-Winter syndrome | Autism spectrum | |
| RNF216 | p22.1 | Gordon Holmes syndrome | Ataxia spectrum | |
| CARD11 | p22.2 | Atopic dermatitis | Alopecia | |
| CARD11 | p22.2 | Omenn syndrome | Alopecia | |
| BRAT1 | p22.3 | Rigidity and multifocal seizure syndrome lethal neonatal (RMFSL) | Microcephaly | |
| KCDT7 | q11.21 | progressive myoclonic epilepsy 3 | Epilepsy and seizures | |
| AUTS2 | q11.22 | Mental retardation autosomal dominant 26 (MRD26) | Autism spectrum | |
| AUTS2 | q11.22 | Early-onset androgenetic alopecia | Alopecia | |
| KIAA0442 | q11.22 | AUTISM - NOT SPECIFIED | Autism spectrum | |
| MRD26 | q11.22 | MENTAL RETARDATION AUTOSOMAL DOMINANT 26 | Autism spectrum | |
| BAZ1B | q11.23 | WILLIAMS-BEUREN REGION DUPLICATION SYNDROME | Autism spectrum | |
| CLIP2 | q11.23 | Williams syndrome | Panic phobia anxiety | |
| EIEE56 | q11.23 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 56 | Autism spectrum | |
| ELN | q11.23 | 7q11.23 duplication syndrome | Panic phobia anxiety | |
| FZD9 | q11.23 | WILLIAMS-BEUREN REGION DUPLICATION SYNDROME | Autism spectrum | |
| GTF2I | q11.23 | 7q11.23 duplication syndrome | Panic phobia anxiety | |
| GTF2IRD1 | q11.23 | Williams syndrome | Panic phobia anxiety | |
| HIP1 | q11.23 | Huntington`s disease | Huntington`s disease spectrum | |
| LIMK1 | q11.23 | Williams syndrome | Panic phobia anxiety | |
| NCF1 | q11.23 | Williams syndrome | Panic phobia anxiety | |
| YWHAG | q11.23 | TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE GAMMA | Autism spectrum | |
| ABCD4 | q21.1 | Intraheptic cholestasis | Bradycardia (<60 beats/minute) | |
| SEMA3E | q21.11 | CHARGE syndrome | Cleft lip / cleft palate | |
| ABCB1 | q21.12 | Ulcerative colitis | Irritable Bowel Disorders | |
| SAMD9L | q21.2 | Ataxia-pancytopenia syndrome | Ataxia spectrum | |
| PON1 | q21.3 | Microvascular complications of diabetes 5 | Diabetes | |
| SLC25A13 | q21.3 | Citrullinemia | Ataxia spectrum | |
| CDK6 | q21-q22 | Microcephaly 12 primary autosomal recessive (MCPH12) | Microcephaly | |
| AUTS1 | q22 | AUTISM | Autism spectrum | |
| RELN | q22 | Lissencephaly with cerebellar hypoplasia (LCH) | Autism spectrum | |
| AP4M1 | q22.1 | Cerebral palsy spastic quadriplegic type 3 (CPSQ3) disorder | Cerebral palsy | |
| CUX1 | q22.1 | CUT-LIKE HOMEOBOX 1 | Autism spectrum | |
| DEDDFA | q22.1 | DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM | Autism spectrum | |
| EPO | q22.1 | Microvascular complications of diabetes 2 | Diabetes | |
| GIGYF1 | q22.1 | Autism 18 (AUTS18) | Autism spectrum | |
| TAF6 | q22.1 | Alazami-Yuan syndrome | Autism spectrum | |
| TRRAP | q22.1 | TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN | Autism spectrum | |
| SLC26A4 | q22.3 | Congenital hypothyroidism | Hypothyroidism | |
| AUTS9 | q31 | AUTISM | Autism spectrum | |
| COG5 | q31 | Congenital disorder of glycosylation | Microcephaly | |
| KCND2 | q31 | Potassium gated epilepsy and autism | Autism spectrum | |
| DLD | q31.1 | Dihydrolipoamide dehydrogenase deficiency | Ataxia spectrum | |
| FOXP2 | q31.1 | FOXP2-related speech and language disorder | Autism spectrum | |
| FOXP2 | q31.1 | FOXP2-related speech and language disorder | Autism spectrum | |
| FOXP2 | q31.1 | FOXP2-related speech and language disorder | Autism spectrum | |
| FOXP2 | q31.1 | FOXP2-related speech and language disorder | Autism spectrum | |
| SPCH1 | q31.1 | SPEECH-LANGUAGE DISORDER 1 | Autism spectrum | |
| CFTR | q31.2 | hereditary pancreatitis | Diabetes | |
| MET | q31.2 | MET PROTOONCOGENE | Autism spectrum | |
| ST7 | q31.2 | SUPPRESSOR OF TUMORIGENICITY 7 | Autism spectrum | |
| WNT2 | q31.2 | WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY MEMBER 2 | Autism spectrum | |
| CTTNBP2 | q31.31 | CORTACTIN-BINDING PROTEIN 2 | Autism spectrum | |
| CADPS2 | q31.32 | CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2 | Autism spectrum | |
| CHRM2 | q31-q35 | Cholinergic receptor muscarinic 2 | Bradycardia (<60 beats/minute) | |
| CEP41 | q32 | Joubert syndrome | Autism spectrum | |
| FLNC | q32.1 | Myofibrillar myopathy | Muscular dystrophies | |
| IMPDH1 | q32.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| IRF5 | q32.1 | Rheumatoid arthritis | Arthritis | |
| IRF5 | q32.1 | Ulcerative colitis | Irritable Bowel Disorders | |
| OPN1SW | q32.1 | Color vision deficiency | Photophobia - sensitivity to light | |
| RBM28 | q32.1 | Alopecia progressive neurological defects and endocrinopathy (ANE syndrome) | Alopecia | |
| BRAF | q34 | Noonan syndrome | Autism spectrum | |
| BRAF | q34 | Cardiofaciocutaneous syndrome | Autism spectrum | |
| BRAF | q34 | Langerhans cell histiocytosis | Diabetes | |
| PRSS1 | q34 | hereditary pancreatitis | Diabetes | |
| UBN2 | q34 | Autism 18 (AUTS18) | Autism spectrum | |
| CNTNAP2 | q35 | Autism with cortical dysplasia-focal epilepsy syndrome | Autism spectrum | |
| AUTS15 | q35-q36 | AUTISM | Autism spectrum | |
| PTHSL1 | q35-q36 | PITT-HOPKINS-LIKE SYNDROME 1 | Autism spectrum | |
| SLI4 | q35-q36 | SPECIFIC LANGUAGE IMPAIRMENT 4 | Autism spectrum | |
| AUTS10 | q36 | AUTISM | Autism spectrum | |
| KLEFS2 | q36.1 | KLEEFSTRA SYNDROME 2 | Autism spectrum | |
| KMT2C | q36.1 | Autism 18 (AUTS18) | Autism spectrum | |
| PRKAG2 | q36.1 | Wolff-Parkinson-White syndrome | Tachycardia (>100 beats/minute) | |
| DPP6 | q36.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| EN2 | q36.3 | Autism 18 (AUTS18) | Autism spectrum | |
| PTPRN2 | q36.3 | Type 2 Diabetes | Diabetes | |
| SHH | q36.3 | Microcephaly - other | Microcephaly | |
| WDR60 | q36.3 | Short-rib thoracic dysplasia 13 | Cleft lip / cleft palate | |
| SHH | q37 | Nonsyndromic holoprosencephaly | Cleft lip / cleft palate | |