Gene |
Location |
Syndrome |
Category |
ADHD2 | p11 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
AKAP10 | p11.1 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
KCNJ18 | p11.2 | Thyroid disorders | Hypothyroidism | |
PTLS | p11.2 | Potocki-Lupski syndrome | Autism spectrum | |
RAI1 | p11.2 | Potocki-Lupski syndrome | Autism spectrum | |
RAI1 | p11.2 | Circadian rhythm disruption | Sleep disorders | |
RAI1 | p11.2 | Smith-Magenis syndrome | Autism spectrum | |
UBB | p11.2-12 | Alzheimer - late onset | Alzheimer Syndrome | |
PMP22 | p12 | Hereditary neuropathy with liability to pressure palsies | Cerebral palsy | |
ASPG2 | p13 | Asperger syndrome - classical | Asperger`s | |
CHD3 | p13 | Snijders Blok-Campeau syndrome | Autism spectrum | |
ACADVL | p13.1 | Very long-chain acyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
ACADVLD | p13.1 | ACYL-CoA DEHYDROGENASE VERY LONG-CHAIN DEFICIENCY OF | Autism spectrum | |
ALOX12 | p13.1 | Type 2 Diabetes | Diabetes | |
ALOX12B | p13.1 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
ALOXE3 | p13.1 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
GUCY2D | p13.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
MYH13 | p13.1 | Arthrogryposis - other | Arthrogryposis spectrum | |
MYH2 | p13.1 | Arthrogryposis - other | Arthrogryposis spectrum | |
MYH3 | p13.1 | Freeman-Sheldon syndrome | Tachycardia (>100 beats/minute) | |
MYH3 | p13.1 | Freeman-Sheldon or Sheldon-Hall | Arthrogryposis spectrum | |
MYH8 | p13.1 | Distal arthrogryposis type 7 | Arthrogryposis spectrum | |
MYH8 | p13.1 | Trismus-pseudocamptodactyly | Arthrogryposis spectrum | |
NLGN2 | p13.1 | Pervasive Developmental Delay - not otherwise specified | Pervasive Developmental Delay | |
PI3K | p13.1 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
SLC2A4 | p13.1 | Type 2 Diabetes | Diabetes | |
SNIBCPS | p13.1 | Snijders Blok-Campeau syndrome | Autism spectrum | |
KDM6B | p13.1 | Autism 18 (AUTS18) | Autism spectrum | |
AIPL1 | p13.2 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
CTNS | p13.2 | Cystinosis | Photophobia - sensitivity to light | |
KIF1C | p13.2 | Spastic ataxia autosomal recessive type 02 | Ataxia spectrum | |
NLRP1 | p13.2 | Type 1 Diabetes | Diabetes | |
PFN1 | p13.2 | Huntington`s disease | Huntington`s disease spectrum | |
LIS1 | p13.3 | LISSENCEPHALY 1 | Autism spectrum | |
PAFAH1B1 | p13.3 | Microcephaly - other | Microcephaly | |
WDR81 | p13.3 | Cerebellar ataxia mental retardation and dysequilibrium syndrome type 02 | Ataxia spectrum | |
AUTS6 | q11 | AUTISM | Autism spectrum | |
CRYBA1 | q11.2 | Cataract 10 multiple types (CTRCT10) | Cataracts | |
FOXN1 | q11.2 | T-cell immunodeficiency congenital alopecia and nail dystrophy | Alopecia | |
NF1 | q11.2 | neurofibromatosis type 1 | Neurofibromatosis | |
RNF135 | q11.2 | RING FINGER PROTEIN 135 | Autism spectrum | |
SLC46A1 | q11.2 | Hereditary folate malabsorption | Ataxia spectrum | |
SLC6A4 | q11.2 | Alzheimer - late onset | Alzheimer Syndrome | |
CCL11 | q12 | Asthma-related traits (ASRT) | Asthma | |
GPIBD11 | q12 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 | Autism spectrum | |
HNF1B | q12 | 17q12 deletion syndrome | Diabetes | |
LHX1 | q12 | 17q12 deletion syndrome | Diabetes | |
TAF15 | q12 | ALS | ALS - amyotrophic lateral sclerosis | |
TPFS | q12 | TURNPENNY-FRY SYNDROME | Autism spectrum | |
UNC45B | q12 | Cataract 43 (CTRCT43) | Cataracts | |
IKZF3 | q12-q21.1 | Rheumatoid arthritis | Arthritis | |
AUTS7 | q21 | AUTISM | Autism spectrum | |
JUP | q21 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
MAPT | q21.1 | Progressive supranuclear palsy | Cerebral palsy | |
THRA | q21.1 | Congenital hypothyroidism | Hypothyroidism | |
KANSL1 | q21.13 | Koolen-de Vries syndrome | Epilepsy and seizures | |
CAVIN1 | q21.2 | Type 2 Diabetes | Diabetes | |
FKBP10 | q21.2 | Kuskokwim syndrome | Arthrogryposis spectrum | |
HCRT | q21.2 | Narcolepsy | Sleep disorders | |
HIES1 | q21.2 | HYPER-IgE RECURRENT INFECTION SYNDROME 1 AUTOSOMAL DOMINANT | Autism spectrum | |
JUP | q21.2 | LCEB lethal congenital epidermolysis bullosa | Alopecia | |
KRT12 | q21.2 | Meesmann corneal dystrophy | Photophobia - sensitivity to light | |
KRT14 | q21.2 | NFJS/DPR Naegeli-Franceschetti-Jadassohn syndrome | Alopecia | |
MPS3B | q21.2 | MUCOPOLYSACCHARIDOSIS TYPE IIIB | Autism spectrum | |
NAGLU | q21.2 | N-ACETYLGLUCOSAMINIDASE ALPHA- | Autism spectrum | |
PSMC3IP | q21.2 | Thyroid disorders | Hypothyroidism | |
RARA | q21.2 | Acute lymphoblastic leukemia | Leukemia | |
SMARCE1 | q21.2 | Microcephaly - other | Microcephaly | |
STAT3 | q21.2 | Crohn Disease | Irritable Bowel Disorders | |
CDC6 | q21.3 | Meier-Gorlin syndrome | Microcephaly | |
CONDBA | q21.31 | NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHY | Autism spectrum | |
EFTUD2 | q21.31 | Mandibulofacial dysostosis with microcephaly | Microcephaly | |
G6PC | q21.31 | Glycogen storage disease type I | Hyperlipidemia | |
KDVS | q21.31 | Koolen-de Vries syndrome | Epilepsy and seizures | |
MAPT | q21.31 | Parkinson-dementia syndrome | Parkinsonism |
ITGB3 | q21.32 | INTEGRIN BETA-3 | Autism spectrum | |
PNP0 | q21.32 | Pyridoxal 5`-phosphate-dependent epilepsy | Bradycardia (<60 beats/minute) | |
PNPOD | q21.32 | PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | Autism spectrum | |
TBX21 | q21.32 | Asthma with nasal polyps and aspirin intolerance (ANPAI) | Asthma | |
RAD51C | q22 | Microcephaly - other | Microcephaly | |
PTRH2 | q23.1 | Microcephaly - other | Microcephaly | |
BRIP1 | q23.2 | Microcephaly - other | Microcephaly | |
JDVS | q23.2 | JANSEN-DE VRIES SYNDROME | Autism spectrum | |
MRD57 | q23.2 | Mental retardation autosomal dominant 57 | Autism spectrum | |
TLK2 | q23.2 | Mental retardation autosomal dominant 57 | Autism spectrum | |
VETD | q23.2 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | Autism spectrum | |
MED13 | q23.2 | Autism 18 (AUTS18) | Autism spectrum | |
ACE | q23.3 | Type 1 Diabetes | Diabetes | |
ACE | q23.3 | Type 2 Diabetes | Diabetes | |
POLG2 | q23.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
STRADA | q23.3 | Polyhydramnios megalencephaly and symptomatic epilepsy | Epilepsy and seizures | |
PSMD12 | q24.2 | Stankiewicz-Isidor syndrome | Autism spectrum | |
STISS | q24.2 | Stankiewicz-Isidor syndrome | Autism spectrum | |
AANAT | q25.1 | Sleep-wake schedule disorder - delayed phase type | Sleep disorders | |
ACOX1 | q25.1 | Peroxisomal acyl-CoA oxidase deficiency | Epilepsy and seizures | |
GALK1 | q25.1 | Galactosemia (type II) | Galactosemia | |
ITGB4 | q25.1 | EB-PA Epidermolysis bullosa with pyloric atresia | Alopecia | |
MRT44 | q25.1 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 44 | Autism spectrum | |
TSEN54 | q25.1 | Pontocerebellar hypoplasia | Microcephaly | |
ACTG1 | q25.3 | Baraitser-Winter syndrome | Autism spectrum | |
GCGR | q25.3 | Type 2 Diabetes | Diabetes | |
P4HB | q25.3 | Thyroid disorders | Hypothyroidism | |
SLC25A19 | q25.3 | Amish lethal microcephaly | Microcephaly | |