| Gene |
Location |
Syndrome |
Category |
| SRGAP2C | p11.2 | SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2C | Autism spectrum | |
| NOTCH2 | p11-13 | Hajdu-Cheney syndrome | Cleft lip / cleft palate | |
| PHGDH | p12 | Phosphoglycerate dehydrogenase deficiency | Microcephaly | |
| GNAI3 | p13 | Auriculo-condylar syndrome | Cleft lip / cleft palate | |
| CASQ2 | p13.1 | Catecholaminergic polymorphic ventricular tachycardia | Tachycardia (>100 beats/minute) | |
| CD2 | p13.1 | Rheumatoid arthritis | Arthritis | |
| CD58 | p13.1 | Rheumatoid arthritis | Arthritis | |
| HOMGSMR2 | p13.1 | HYPOMAGNESEMIA SEIZURES | Autism spectrum | |
| AP4B1 | p13.2 | Cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder | Cerebral palsy | |
| NRAS | p13.2 | Noonan syndrome | Autism spectrum | |
| NRAS | p13.2 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
| PTPN22 | p13.2 | Type 1 Diabetes | Diabetes | |
| PTPN22 | p13.2 | Graves disease - overactive thyroid | Hyperthyroidism | |
| PTPN22 | p13.2 | Thyroid disorders | Hypothyroidism | |
| PTPN22 | p13.2 | Rheumatoid arthritis | Arthritis | |
| SLC16A1 | p13.2 | Congenital hyperinsulinism | Diabetes | |
| TSHB | p13.2 | Congenital hypothyroidism | Hypothyroidism | |
| ALX3 | p13.3 | Frontonasal dysplasia | Cleft lip / cleft palate | |
| AMPD2 | p13.3 | Pontocerebellar hypoplasia | Microcephaly | |
| GNAT2 | p13.3 | Achromatopsia | Photophobia - sensitivity to light | |
| NTNG1 | p13.3 | NETRIN G1 | Autism spectrum | |
| SASS6 | p21 | Microcephaly - other | Microcephaly | |
| SLC35A3 | p21 | Arthrogryposis mental retardation and seizures (AMRS) | Arthrogryposis spectrum | |
| COL11A1 | p21.1 | Fibrochondrogenesis type 1 | Fibrochondrogenesis | |
| AGL | p21.2 | Glycogen storage disease type III | Hyperlipidemia | |
| AMRS | p21.2 | ARTHROGRYPOSIS MENTAL RETARDATIONAND SEIZURES | Autism spectrum | |
| DPYD | p21.3 | Microcephaly - other | Microcephaly | |
| DPYD | p22 | Dihydropyrimidine dehydrogenase deficiency | Autism spectrum | |
| ABCA4 | p22.1 | cone-rod dystrophy | Photophobia - sensitivity to light | |
| DBA6 | p22.1 | DIAMOND-BLACKFAN ANEMIA 6 | Autism spectrum | |
| RPL5 | p22.1 | Microcephaly - other | Microcephaly | |
| RPL5 | p22.1 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| ACADM | p31.1 | Medium-chain acyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
| SRSF11 | p31.1 | Autism 18 (AUTS18) | Autism spectrum | |
| ALG6 | p31.3 | ALG6-congenital disorder of glycosylation | Ataxia spectrum | |
| DNAJC6 | p31.3 | Parkinson disease early onset | Parkinsonism |
| IL23R | p31.3 | Crohn Disease | Irritable Bowel Disorders | |
| IL23R | p31.3 | Ulcerative colitis | Irritable Bowel Disorders | |
| RPE65 | p31.3 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| PARK10 | p32 | Parkinson disease age at onset | Parkinsonism |
| ORC1 | p32 | Meier-Gorlin syndrome | Microcephaly | |
| PPT1 | p32 | Infantile neuronal ceroid lipofuscinosis | Microcephaly | |
| STIL | p32 | Autosomal recessive primary microcephaly | Microcephaly | |
| FGGY | p32.1 | ALS | ALS - amyotrophic lateral sclerosis | |
| DHCR24 | p32.3 | Desmosterolosis | Arthrogryposis spectrum | |
| MMACHC | p34.1 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
| MMACHC | P34.1 | Microcephaly - other | Microcephaly | |
| POMGNT1 | p34.1 | Walker-Warburg syndrome | Microphthalmia | |
| SLC6A9 | p34.1 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
| MCPH15 | p34.2 | MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
| MFSD2A | p34.2 | Microcephaly - other | Microcephaly | |
| PPT1 | p34.2 | CLN1 disease | Epilepsy and seizures | |
| SLC2A1 | p34.2 | Microcephaly - other | Microcephaly | |
| SLC2A1 | p34.2 | Non-epileptic GLUT1 deficiency syndrome | Ataxia spectrum | |
| SLC2A1 | p34.2 | GLUT1 deficiency syndrome | Ataxia spectrum | |
| CONDSIAS | p34.3 | NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCED | Autism spectrum | |
| POU3F1 | p34.3 | Rheumatoid arthritis | Arthritis | |
| SNIP1 | p34.3 | Psychomotor retardation epilepsy and craniofacial dysmorphism | Epilepsy and seizures | |
| RPL11 | p35-36.1 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
| many | p36 | 1p36 monosomy | Autism spectrum | |
| AHDC1 | p36.11 | Xia-Gibbs syndrome | Autism spectrum | |
| ARID1A | p36.11 | Microcephaly - other | Microcephaly | |
| GALE | p36.11 | Galactosemia (type III) | Galactosemia | |
| HMGCL | p36.11 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | Reye`s Syndrome-like diseases | |
| HPMRS1 | p36.11 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 | Autism spectrum | |
| NR0B2 | p36.11 | Thyroid disorders | Hypothyroidism | |
| PIGV | p36.11 | Mabry syndrome | Autism spectrum | |
| RPL11 | p36.11 | Microcephaly - other | Microcephaly | |
| SLC9A1 | p36.11 | SOLUTE CARRIER FAMILY 9 MEMBER 1 | Autism spectrum | |
| PINK1 | p36.12 | Parkinson disease - other |
Parkinsonism | |
| TKS | p36.12 | TAKENOUCHI-KOSAKI SYNDROME | Autism spectrum | |
| WNT4 | p36.12 | Cerebral palsy - unassigned | Cerebral palsy | |
| ATP13A2 | p36.13 | Parkinson disease type 9 |
Parkinsonism | |
| CROCC | p36.13 | Autism 18 (AUTS18) | Autism spectrum | |
| EPHA2 | P36.13 | Cataract 06 multiple types (CTRCT6) | Cataracts | |
| PADI4 | p36.13 | Rheumatoid arthritis | Arthritis | |
| SDHB | p36.13 | Thyroid disorders | Hypothyroidism | |
| SEPN1 | p36.13 | Multiminicore disease | Arthrogryposis spectrum | |
| CTRC | p36.21 | hereditary pancreatitis | Diabetes | |
| NPPA | p36.21 | Atrial standstill 2 | Bradycardia (<60 beats/minute) | |
| PRAMEF13 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
| PRAMEF16 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
| PRAMEF19 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
| PRAMEF20 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
| PRAMEF8 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
| PRAMEF9 | p36.21 | Autism 18 (AUTS18) | Autism spectrum | |
| MTOR | p36.22 | MECHANISTIC TARGET OF RAPAMYCIN | Autism spectrum | |
| NMNAT1 | p36.22 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| SKS | p36.22 | SMITH-KINGSMORE SYNDROME | Autism spectrum | |
| TARDBP | p36.22 | ALS | ALS - amyotrophic lateral sclerosis | |
| TNFRSF1B | p36.22 | Narcolepsy | Sleep disorders | |
| IDDNPF | p36.23 | INTELLECTUAL DEVELOPMENTAL DISORDER 6 | Autism spectrum | |
| NEDBEH | p36.23 | NEURODEVELOPMENTAL DISORDER 08 | Autism spectrum | |
| PARK7 | p36.23 | Parkinson disease - other |
Parkinsonism | |
| PER3 | p36.23 | Advanced sleep phase syndrome familial 3 (FASPS3) | Sleep disorders | |
| RERE | p36.23 | Neurodevelopmental disorder with or without anomalies of the brain eye heart | Autism spectrum | |
| CAMTA1 | P36.23-31 | CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1 | Autism spectrum | |
| CANPMR | p36.23-31 | CEREBELLAR ATAXIA NONPROGRESSIVE WITH MENTAL RETARDATION | Autism spectrum | |
| MTHFR | p36.3 | Methylenetetrahydrofolate reductase error syndrome | Cleft lip / cleft palate | |
| CEP104 | p36.32 | Joubert syndrome | Autism spectrum | |
| TNFRSF14 | p36.32 | Rheumatoid arthritis | Arthritis | |
| GABRD | p36.33 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
| GABRD | p36.33 | Genetic epilepsy with febrile seizures plus | Ataxia spectrum | |
| MRD42 | p36.33 | MENTAL RETARDATION AUTOSOMAL DOMINANT 42 | Autism spectrum | |
| NADK | p36.33 | Microcephaly - other | Microcephaly | |
| TMEM240 | p36.33 | Spinocerebellar ataxia type 21 | Ataxia spectrum | |
| PKLR | q21 | Pyruvate kinase deficiency | Tachycardia (>100 beats/minute) | |
| GJA5 | q21.1 | 1q21.1 bradycardia | Bradycardia (<60 beats/minute) | |
| GJA8 | q21.1 | Cataract 01 multiple types (CTRCT1) | Cataracts | |
| ADAMTSL4 | q21.2 | Ectopia lentis | Cataracts | |
| ECM1 | q21.2 | Lipoid proteinosis | Alopecia | |
| ADAR | q21.3 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| CHRNB2 | q21.3 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
| FLG | q21.3 | Atopic dermatitis | Alopecia | |
| IL6R | q21.3 | Rheumatoid arthritis | Arthritis | |
| POGZ | q21.3 | Mental retardation autosomal dominant 37 (MRD37) | Autism spectrum | |
| RFX5 | q21.3 | ALS | ALS - amyotrophic lateral sclerosis | |
| WHSUS | q21.3 | WHITE-SUTTON SYNDROME | Autism spectrum | |
| ASPG3 | q21-22 | Asperger syndrome - classical | Asperger`s | |
| CLK2 | q22 | CDC-LIKE KINASE 2 | Autism spectrum | |
| GBA | q22 | Parkinson disease - other | Parkinsonism |
|
| LMNA | q22 | Hutchinson-Gilford progeria syndrome | Alopecia | |
| LMNA | q22 | Familial partial lipodystrophy | Diabetes | |
| LMNA | q22 | Emery-Dreifuss muscular dystrophy | Bradycardia (<60 beats/minute) | |
| MMYAT | q22 | MYOPATHY MITOCHONDRIAL AND ATAXIA | Autism spectrum | |
| MRD52 | q22 | MENTAL RETARDATION AUTOSOMAL DOMINANT 52 | Autism spectrum | |
| RIT1 | q22 | Noonan syndrome | Autism spectrum | |
| ASH1L | q22 | Autism 18 (AUTS18) | Autism spectrum | |
| FCRL3 | q23.1 | Thyroid disorders | Hypothyroidism | |
| NTRK1 | q23.1 | Thyroid disorders | Hypothyroidism | |
| ATP1A2 | q23.2 | Sporadic hemiplegic migraine | Ataxia spectrum | |
| FHM2 | q23.2 | MIGRAINE FAMILIAL HEMIPLEGIC 2 | Autism spectrum | |
| KCNJ10 | q23.2 | SeSAME syndrome | Epilepsy and seizures | |
| CAKUTHED | q23.3 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME | Autism spectrum | |
| FCGR2A | q23.3 | Rheumatoid arthritis | Arthritis | |
| FCGR2B | q23.3 | Rheumatoid arthritis | Arthritis | |
| NR1I3 | q23.3 | NUCLEAR RECEPTOR SUBFAMILY 1 GROUP I MEMBER 3 | Autism spectrum | |
| USF1 | q23.3 | Hyperlipidemia combined 1 | Hyperlipidemia | |
| SLC19A2 | q24.2 | Type 2 Diabetes | Diabetes | |
| FASLG | q24.3 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
| DARS2 | q25.1 | Leukoencephalopathy with brainstem/spinal cord involvement | Ataxia spectrum | |
| RABGAP1L | q25.1 | Autism 18 (AUTS18) | Autism spectrum | |
| LAMC2 | q25.3 | JEB Junctional epidermolysis bullosa | Alopecia | |
| ASPM | q31 | Autosomal recessive primary microcephaly | Microcephaly | |
| CRB1 | q31.3 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| PTPRC | q31.3 | Rheumatoid arthritis | Arthritis | |
| CACNA1S | q32 | Malignant hyperthermia | Tachycardia (>100 beats/minute) | |
| CFH | q32 | Atypical hemolytic-uremic syndrome | Tachycardia (>100 beats/minute) | |
| CHI3L1 | q32.1 | Asthma-related traits 7 (ASRT7) | Asthma | |
| CNTN2 | q32.1 | familial adult myoclonic epilepsy 5 | Epilepsy and seizures | |
| IL10 | q32.1 | Crohn Disease | Irritable Bowel Disorders | |
| KDM5B | q32.1 | Autism 16 with epilepsy (AUTS16) | Autism spectrum | |
| MCPH20 | q32.1 | MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
| MDM4 | q32.1 | MOUSE DOUBLE MINUTE 4 HOMOLOG | Autism spectrum | |
| PPP1R15B | q32.1 | Microcephaly - other | Microcephaly | |
| LAMB3 | q32.2 | JEB Junctional epidermolysis bullosa | Alopecia | |
| SYT14 | q32.2 | Spinocerebellar ataxia autosomal recessive type 11 | Ataxia spectrum | |
| FLVCR1 | q32.3 | Posterior column ataxia with retinitis pigmentosa | Ataxia spectrum | |
| RD3 | q32.3 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| IRF6 | q32.3-q41 | Van der Woude syndrome | Cleft lip / cleft palate | |
| DISP1 | q41 | Microcephaly - other | Microcephaly | |
| KCTD3 | q41 | POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3 | Autism spectrum | |
| MARK1 | q41 | MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1 | Autism spectrum | |
| TGFB2 | q41 | Loeys-Dietz syndrome | Asthma | |
| BPNT1 | q41-a42 | Fryn`s Syndrome - 1Q41-Q42 microdeletion | Autism spectrum | |
| DISP1 | q41-a42 | Fryn`s Syndrome - 1Q41-Q42 microdeletion | Autism spectrum | |
| AUTS11 | q41-q42 | AUTISM | Autism spectrum | |
| FH | q42.1 | Fumarase deficiency | Microcephaly | |
| SKDEAS | Q42.11-12 | SKRABAN-DEARDORFF SYNDROME | Autism spectrum | |
| LEFTY2 | q42.12 | heterotaxy syndrome | Heterotaxy | |
| COQ8A | Q42.13 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
| GJC2 | q42.13 | Pelizaeus-Merzbacher-like disease type 01 | Ataxia spectrum | |
| PSEN2 | q42.13 | Alzheimer - early onset | Alzheimer Syndrome | |
| GNPAT | q42.2 | Rhizomelic chondrodysplasia punctata type 2 | Rhizomelic chondrodysplasia punctata | |
| B3GALNT2 | q42.3 | Walker-Warburg syndrome | Microphthalmia | |
| LYST | q42.3 | Chediak-Higashi syndrome | Ataxia spectrum | |
| MTR | q43 | Homocystinuria | Vitamin B12 metabolism spectrum | |
| RYR2 | q43 | Catecholaminergic polymorphic ventricular tachycardia | Tachycardia (>100 beats/minute) | |
| AKT3 | q43-44 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Autism spectrum | |
| AKT3 | q44 | Microcephaly - other | Microcephaly | |
| COX20 | q44 | Cytochrome-c oxidase deficiency | Ataxia spectrum | |
| EIEE54 | q44 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 54 | Autism spectrum | |
| HNRNPU | q44 | Epileptic encephalopathy early infantile 54 (EIEE54) | Epilepsy and seizures | |