| Gene |
Location |
Syndrome |
Category |
| DDX11 | p11 | Warsaw breakage syndrome | Microcephaly | |
| PKP2 | p11 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| DNM1L | p11.21 | Alzheimer - late onset | Alzheimer Syndrome | |
| BHLHE41 | p12.1 | Seasonal affective disorder | Sleep disorders | |
| KRAS | p12.1 | Noonan syndrome | Autism spectrum | |
| KRAS | p12.1 | Cardiofaciocutaneous syndrome | Autism spectrum | |
| KRAS | p12.1 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
| PDE6H | p12.3 | Achromatopsia | Photophobia - sensitivity to light | |
| OLR1 | p12.3-13.2 | Alzheimer - late onset | Alzheimer Syndrome | |
| CDKN1B | p13.1 | CYCLIN-DEPENDENT KINASE INHIBITOR 1B | Autism spectrum | |
| EIEE27 | p13.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 27 | Autism spectrum | |
| GRIN2B | p13.1 | Mental retardation autosomal dominant 06 (MRD6) | Autism spectrum | |
| MRD6 | p13.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 6 | Autism spectrum | |
| ETV6 | p13.2 | Acute myeloid leukemia | Leukemia | |
| CACNA1C | p13.3 | Timothy Syndrome | Autism spectrum | |
| EMG1 | p13.3 | Bowen-Conradi syndrome | Cleft lip / cleft palate | |
| A2M | p13.31 | Alzheimer - late onset | Alzheimer Syndrome | |
| A2ML1 | p13.31 | Noonan syndrome | Autism spectrum | |
| ATN1 | p13.31 | Dentatorubral-pallidoluysian atrophy | Ataxia spectrum | |
| C12ORF57 | p13.31 | CHROMOSOME 12 OPEN READING FRAME 57 | Autism spectrum | |
| EMG1 | p13.31 | Microcephaly - other | Microcephaly | |
| FAM86FP | p13.31 | Autism 18 (AUTS18) | Autism spectrum | |
| FAM90A1 | p13.31 | Autism 18 (AUTS18) | Autism spectrum | |
| GDF3 | p13.31 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
| LINC00937 | p13.31 | Autism 18 (AUTS18) | Autism spectrum | |
| MCPH21 | p13.31 | MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
| TEMTYS | p13.31 | TEMTAMY SYNDROME | Autism spectrum | |
| VAMP1 | p13.31 | Spastic ataxia autosomal dominant type 01 | Ataxia spectrum | |
| CCND2 | p13.32 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Autism spectrum | |
| KCNA1 | p13.32 | Episodic ataxia | Ataxia spectrum | |
| MRT66 | p13.32 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 66 | Autism spectrum | |
| ERC1 | p13.33 | Thyroid disorders | Hypothyroidism | |
| TS | p13.33 | Timothy Syndrome | Autism spectrum | |
| LRRK2 | q12 | Crohn Disease | Irritable Bowel Disorders | |
| LRRk2 | q12 | Parkinson disease - other | Parkinsonism | |
| PRICKLE1 | q12 | PRICKLE1-related progressive myoclonus epilepsy with ataxia | Ataxia spectrum | |
| ERBB3 | q13 | Lethal arthrogryposis with anterior horn cell disease | Arthrogryposis spectrum | |
| PHC1 | q13 | Microcephaly 11 primary autosomal recessive (MCPH11) | Microcephaly | |
| RPS26 | q13 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| VDR | q13.11 | Hereditary vitamin D-resistant rickets type 2 | Alopecia | |
| MRT25 | q13.11-q15 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 25 | Autism spectrum | |
| ADCY6 | q13.12 | Lethal congenital contracture syndrome 8 (LCCS8) | Arthrogryposis spectrum | |
| AQP2 | q13.12 | Nephrogenic diabetes insipidus | Diabetes | |
| KMT2D | q13.12 | Microcephaly - other | Microcephaly | |
| LIS3 | q13.12 | LISSENCEPHALY 3 | Autism spectrum | |
| OI15 | q13.12 | OSTEOGENESIS IMPERFECTA TYPE XV | Autism spectrum | |
| PRPH | q13.12 | ALS | ALS - amyotrophic lateral sclerosis | |
| TUBA1A | q13.12 | Microcephaly - other | Microcephaly | |
| AAAS | q13.13 | Microcephaly - other | Microcephaly | |
| EIEE13 | q13.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 13 | Autism spectrum | |
| HNRNPA1 | q13.13 | ALS | ALS - amyotrophic lateral sclerosis | |
| KRT18 | q13.13 | Cryptogenic cirrhosis | Diabetes | |
| KRT3 | q13.13 | Meesmann corneal dystrophy | Photophobia - sensitivity to light | |
| KRT8 | q13.13 | Cryptogenic cirrhosis | Diabetes | |
| SCN8A | q13.13 | SCN8A-related epilepsy with encephalopathy | Epilepsy and seizures | |
| RPS26 | q13.2 | Microcephaly - other | Microcephaly | |
| SMARCC2 | q13.2 | Autism 18 (AUTS18) | Autism spectrum | |
| SUOX | q13.2 | Isolated sulfite oxidase deficiency | Ataxia spectrum | |
| KIF5A | q13.3 | Rheumatoid arthritis | Arthritis | |
| PIP4K2C | q13.3 | Rheumatoid arthritis | Arthritis | |
| STAC3 | q13.3 | Native American myopathy | Arthrogryposis spectrum | |
| AGAP2 | q14.1 | Autism 18 (AUTS18) | Autism spectrum | |
| AUTS13 | q14.2 | AUTISM | Autism spectrum | |
| MDDGA10 | q14.2 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A 10 | Autism spectrum | |
| RXYLT1 | q14.2 | Walker-Warburg syndrome | Microphthalmia | |
| TBK1 | q14.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| GRIP1 | q14.3 | Fraser syndrome | Cleft lip / cleft palate | |
| IRAK3 | q14.3 | Asthma-related traits 5 (ASRT5) | Asthma | |
| IFNG | q15 | TUBEROUS SCLEROSIS 2 | Autism spectrum | |
| ALX1 | q21.31 | Frontonasal dysplasia | Cleft lip / cleft palate | |
| CEP290 | q21.32 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| LIS8 | q21.32 | LISSENCEPHALY 8 | Autism spectrum | |
| DCN | q21.33 | Congenital stromal corneal dystrophy | Photophobia - sensitivity to light | |
| CRADD | q21.33-23 | Mental retardation autosomal recessive 34 (MRT34) | Autism spectrum | |
| MRT34 | q22 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALY | Autism spectrum | |
| MYBPC1 | q23.2 | Distal arthrogryposis type 1 | Arthrogryposis spectrum | |
| PAH | q23.2 | Microcephaly - other | Microcephaly | |
| PKU | q23.2 | PHENYLKETONURIA | Autism spectrum | |
| CRY1 | q23.3 | Sleep-wake schedule disorder - delayed phase type | Sleep disorders | |
| POLR3B | q23.3 | Pol III-related leukodystrophy | Ataxia spectrum | |
| ANKLE2 | q24 | Microcephaly - other | Microcephaly | |
| CIT | q24 | Microcephaly - other | Microcephaly | |
| ISCU | q24.1 | Hereditary myopathy with lactic acidosis | Tachycardia (>100 beats/minute) | |
| TBX5 | q24.1 | Holt-Oram syndrome | Bradycardia (<60 beats/minute) | |
| ATP2A2 | q24.11 | Darier disease | Epilepsy and seizures | |
| MMAB | q24.11 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
| MVK | q24.11 | Mevalonate kinase deficiency | Microcephaly | |
| UBE3B | q24.11 | Microcephaly - other | Microcephaly | |
| CUX2 | q24.11-12 | CUT-LIKE HOMEOBOX 2 | Autism spectrum | |
| EIEE67 | q24.11-12 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 67 | Autism spectrum | |
| ATXN2 | q24.12 | ALS | ALS - amyotrophic lateral sclerosis | |
| ATXN2 | q24.12 | Spinocerebellar ataxia type 02 | Ataxia spectrum | |
| ATXN2 | q24.12 | Parkinson disease susceptability | Parkinsonism |
| SH2B3 | q24.12 | Type 2 Diabetes | Diabetes | |
| HECTD4 | q24.13 | Autism 18 (AUTS18) | Autism spectrum | |
| OAS1 | q24.13 | Type 1 Diabetes | Diabetes | |
| PTPN11 | q24.13 | Thyroid disorders | Hypothyroidism | |
| PTPN11 | q24.13 | Noonan syndrome | Autism spectrum | |
| MED13L | q24.21 | Autism 18 (AUTS18) | Autism spectrum | |
| MRFACD | q24.21 | MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES | Autism spectrum | |
| NOS1 | q24.22 | NITRIC OXIDE SYNTHASE 1 | Autism spectrum | |
| MCPH17 | q24.23 | MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
| ACADS | q24.31 | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency | Microcephaly | |
| ACADS | q24.31 | Short-chain acyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| HNF1A | q24.31 | Congenital hyperinsulinism | Diabetes | |
| HNF1A | q24.31 | Type 1 Diabetes | Diabetes | |
| HPD | q24.31 | Tyrosinemia type 03 | Ataxia spectrum | |