Gene |
Location |
Syndrome |
Category |
ACTR3BP2 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
GGT8P | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
LOC654342 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
Mir_544 | p11.1-2 | Autism 18 (AUTS18) | Autism spectrum | |
EIF2AK3 | p11.2 | Zaki-Gleeson syndrome | Autism spectrum | |
ST3GAL5 | p11.2 | GM3 synthase deficiency | Epilepsy and seizures | |
SPR | p12-p14 | Sepiapterin reductase deficiency | Microcephaly | |
PARK3 | p13 | Parkinson disease autosomal dominant | Parkinsonism |
ALMS1 | p13.1 | Alstrom syndrome | Diabetes | |
DCTN1 | p13.1 | ALS | ALS - amyotrophic lateral sclerosis | |
HTRA2 | p13.1 | Parkinson disease 13 | Parkinsonism |
STAMBP | p13.1 | Microcephaly-capillary malformation syndrome | Microcephaly | |
MCEE | p13.3 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
MEIS1 | p14 | Restless legs syndrome | Sleep disorders | |
SLC1A4 | p14 | Microcephaly - other | Microcephaly | |
SPRED2 | p14 | ALS | ALS - amyotrophic lateral sclerosis | |
SPRED2 | p14 | Rheumatoid arthritis | Arthritis | |
BCL11A | p16.1 | Intellectual developmental disorder with persistence of fetal hemoglobin | Autism spectrum | |
FANCL | p16.1 | Microcephaly - other | Microcephaly | |
REL | p16.1 | Rheumatoid arthritis | Arthritis | |
REL | p16.1 | Ulcerative colitis | Irritable Bowel Disorders | |
IDDFBA | p16.3 | INTELLECTUAL DEVELOPMENTAL DISORDER 3 | Autism spectrum | |
NRXN1 | p16.3 | Pitt-Hopkins syndrome | Autism spectrum | |
NRXN1 | p16.3 | Pitt-Hopkins-like syndrome 2 | Autism spectrum | |
NTXN1 | p16.3 | Schizophrenia 17 | Schizophrenia | |
PTHSL2 | p16.3 | Pitt-Hopkins-like syndrome 2 | Autism spectrum | |
CALM2 | p21 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
CRIPT | p21 | Short stature with microcephaly and distinctive facies (SSMF) | Microcephaly | |
SIX3 | p21 | Microcephaly - other | Microcephaly | |
SIX3 | p21 | Nonsyndromic holoprosencephaly | Cleft lip / cleft palate | |
SLC3A1 | p21 | CYSTINURIA TYPE A | Autism spectrum | |
THADA | p21 | Thyroid disorders | Hypothyroidism | |
SOS1 | p22.1 | Noonan syndrome | Autism spectrum | |
SPAST | p22.3 | Spastic paraplegia | Autism spectrum | |
PPP1CB | p23.2 | Noonan syndrome-like disorder with loose anagen hair 2 | Autism spectrum | |
ADCY3 | p23.3 | Autism 18 (AUTS18) | Autism spectrum | |
DNMT3A | p23.3 | Tatton-Brown-Rahman syndrome | Asthma | |
GCKR | p23.3 | Type 2 Diabetes | Diabetes | |
GCKR | p23.3 | Non-alcoholic fatty liver disease | Diabetes | |
HADHA | p23.3 | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
HADHA | p23.3 | Mitochondrial trifunctional protein deficiency | Reye`s Syndrome-like diseases | |
HADHB | p23.3 | Mitochondrial trifunctional protein deficiency | Reye`s Syndrome-like diseases | |
IFT172 | p23.3 | Short-rib thoracic dysplasia 13 | Cleft lip / cleft palate | |
SHAPNS | p23.3 | SHASHI-PENA SYNDROME | Autism spectrum | |
MYCN | p24.3 | Feingold syndrome | Microcephaly | |
RPS7 | p25 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
ADAM17 | p25.1 | Crohn Disease | Irritable Bowel Disorders | |
KLF11 | p25.1 | Type 2 Diabetes | Diabetes | |
LPIN1 | p25.1 | Type 2 Diabetes | Diabetes | |
COLEC11 | p25.3 | Carnevale syndrome | Cleft lip / cleft palate | |
MRD39 | p25.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 39 | Autism spectrum | |
MYT1L | p25.3 | Mental retardation autosomal dominant 37 (MRD37) | Autism spectrum | |
RNASEH1 | p25.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
RPS7 | p25.3 | Microcephaly - other | Microcephaly | |
TPO | p25.3 | Congenital hypothyroidism | Hypothyroidism | |
AFF3 | q11.2 | Rheumatoid arthritis | Arthritis | |
CNGA3 | q11.2 | Achromatopsia | Photophobia - sensitivity to light | |
LIPT1 | q11.2 | Lipoyltransferase 1 deficiency | Bradycardia (<60 beats/minute) | |
NPAS2 | q11.2 | Seasonal affective disorder | Sleep disorders | |
VWA3B | q11.2 | Spinocerebellar ataxia autosomal recessive type 22 | Ataxia spectrum | |
RANBP2 | q13 | Acute necrotizing encephalopathy type 1 | Encephalitis | |
CKAP2L | q14.1 | Microcephaly - other | Microcephaly | |
PAX8 | q14.1 | Congenital hypothyroidism | Hypothyroidism | |
GLI2 | q14.2 | Microcephaly - other | Microcephaly | |
STEAP3 | q14.2 | Hypochromic microcytic anemia with iron overload 2 (AHMIO2) | Copper metabolism defects | |
CLASP1 | q14.3 | Autism 18 (AUTS18) | Autism spectrum | |
LCT | q21 | Lactase deficiency | Lactose intolerance | |
MCM6 | q21 | Lactase deficiency | Lactose intolerance | |
CFC1 | q21.1 | heterotaxy syndrome | Heterotaxy | |
CXCR4 | q22.1 | Waldenström macroglobulinemia | Ataxia spectrum | |
ZEB2 | q22.3 | Mowat-Wilson syndrome | Microcephaly | |
ORC4 | q22-23 | Meier-Gorlin syndrome | Microcephaly | |
KIF5C | q23.1 | Cortical dysplasia with other brain malformations 2 (CDCBM2) | Arthrogryposis spectrum | |
MBD5 | q23.1 | Microcephaly - other | Microcephaly | |
MRD1 | q23.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 1 | Autism spectrum | |
MMADHC | q23.2 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
MMSDHC | q23.2 | Microcephaly - other | Microcephaly | |
CACNB4 | q23.3 | Juvenile myoclonic epilepsy | Epilepsy and seizures | |
CACNB4 | q23.3 | Episodic ataxia | Ataxia spectrum | |
ABCB11 | q24 | Intraheptic cholestasis | Bradycardia (<60 beats/minute) | |
SCN9A | q24 | Small fiber neuropathy | Tachycardia (>100 beats/minute) | |
SLC25A12 | q24 | Global cerebral hypomyelination | Autism spectrum | |
NR4A2 | q24.1 | Thyroid disorders | Hypothyroidism | |
BAZ2B | q24.2 | Narcissistic Personality Disorder | Pervasive Developmental Delay | |
IDDAS | q24.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 1 | Autism spectrum | |
IFIH1 | q24.2 | Aicardi-Goutieres Syndrome | Autism spectrum | |
TBR1 | q24.2 | Autism 18 (AUTS18) | Autism spectrum | |
EIEE11 | q24.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 11 | Autism spectrum | |
EIEE6 | q24.3 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 6 | Autism spectrum | |
FFEVF4 | q24.3 | EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 4 | Autism spectrum | |
SCN1A | q24.3 | Microcephaly - other | Microcephaly | |
SCN1A | q24.3 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
SCN2A | q24.3 | Paroxysmal extreme pain disorder | Bradycardia (<60 beats/minute) | |
SCN2A | q24.3 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
SCN9A | q24.3 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
GAD1 | q31 | Cerebral palsy spastic quadriplegic type 1 (CPSQ1) disorder | Cerebral palsy | |
CHRNA1 | q31.1 | Microcephaly - other | Microcephaly | |
CHRNA1 | q31.1 | Congenital myasthenic syndrome | Arthrogryposis spectrum | |
DCAF17 | q31.1 | Woodhouse-Sakati syndrome | Hypothyroidism | |
DCAF17 | q31.1 | Woodhouse-Sakati syndrome with alopecia totalis | Alopecia | |
DCAF17 | q31.1 | Woodhouse-Sakati syndrome - diabetes mellitus | Diabetes | |
DLX1 | q31.1 | DISTAL-LESS HOMEOBOX 1 | Autism spectrum | |
DLX2 | q31.1 | DISTAL-LESS HOMEOBOX 2 | Autism spectrum | |
ITGA6 | q31.1 | EB-PA Epidermolysis bullosa with pyloric atresia | Alopecia | |
LRP2 | q31.1 | LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2 | Autism spectrum | |
RAPGEF4 | q31.1 | LESCH-NYHAN SYNDROME | Autism spectrum | |
AGPS | q31.2 | Rhizomelic chondrodysplasia punctata type 3 | Rhizomelic chondrodysplasia punctata | |
NEUROD1 | q31.3 | Type 2 Diabetes | Diabetes | |
NCKAP1 | q32.1 | Alzheimer - late onset | Alzheimer Syndrome | |
STAT1 | q32.2 | familial candidiasis (yeast infections) | Encephalitis | |
STAT4 | q32.2-3 | Rheumatoid arthritis | Arthritis | |
HECW2 | q32.3 | Neurodevelopmental disorder with hypotonia seizures and absent language | Epilepsy and seizures | |
NDHSAL | q32.3 | NEURODEVELOPMENTAL DISORDER 03 | Autism spectrum | |
CTLA4 | q33 | Graves Disease | Bradycardia (<60 beats/minute) | |
SUMO1 | q33 | Non-syndromic orofacial cleft 10 | Cleft lip / cleft palate | |
ALS2 | q33.1 | ALS | ALS - amyotrophic lateral sclerosis | |
CASP10 | q33.1 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
CASP8 | q33.1 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
CASP8 | q33.1 | Huntington`s disease | Huntington`s disease spectrum | |
MARS2 | q33.1 | Spastic ataxia autosomal recessive type 03 | Ataxia spectrum | |
NDUFB3 | q33.1 | Mitochondrial complex I deficiency | Vitamin B12 metabolism spectrum | |
CD28 | q33.2 | Rheumatoid arthritis | Arthritis | |
CTLA4 | q33.2 | Type 1 Diabetes | Diabetes | |
CTLA4 | q33.2 | Graves disease - overactive thyroid | Hyperthyroidism | |
CTLA4 | q33.2 | Hashimoto thyroiditis | Hypothyroidism | |
CTLA4 | q33.2 | Rheumatoid arthritis | Arthritis | |
CRYGB | q33.3 | Cataract 39 multiple types (CTRCT39) | Cataracts | |
CRYGC | q33.3 | Cataract 02 multiple types (CTRCT2) | Cataracts | |
CRYGD | q33.3 | Cataract 04 multiple types (CTRCT4) | Cataracts | |
ERBB4 | q34 | ALS | ALS - amyotrophic lateral sclerosis | |
MAP2 | q34 | MICROTUBULE-ASSOCIATED PROTEIN 2 | Autism spectrum | |
ABCA12 | q35 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
ABCA12 | q35 | Lamellar ichthyosis | Alopecia | |
CYP27A1 | q35 | cerebrotendinous xanthomatosis | Epilepsy and seizures | |
DES | q35 | Myofibrillar myopathy | Muscular dystrophies | |
FEV | q35 | Depression anxiety and eating disorders | Panic phobia anxiety | |
PTPRN | q35 | insulin-dependent diabetes mellitus | Diabetes | |
SLC11A1 | q35 | Crohn Disease | Irritable Bowel Disorders | |
SMARCAL1 | q35 | Schimke immuno-osseous dysplasia | Hypothyroidism | |
TUBA4A | q35 | ALS | ALS - amyotrophic lateral sclerosis | |
GPC1 | q35-37 | Alzheimer - late onset | Alzheimer Syndrome | |
CUL3 | q36.2 | Pseudohypoaldosteronism type IIE | Autism spectrum | |
IRS1 | q36.3 | Gestational diabetes | Diabetes | |
MRD49 | q36.3 | Mental retardation autosomal dominant 49 | Autism spectrum | |
SLC19A3 | q36.3 | Biotin-thiamine-responsive basal ganglia disease | Ataxia spectrum | |
SLI5 | q36.3 | SPECIFIC LANGUAGE IMPAIRMENT 5 | Autism spectrum | |
TRIP12 | q36.3 | Mental retardation autosomal dominant 49 | Autism spectrum | |
several | q37 | Albright hereditary osteodystrophy-like syndrome | Autism spectrum | |
ATG16L1 | q37.1 | Crohn Disease | Irritable Bowel Disorders | |
CHRND | q37.1 | Congenital myasthenic syndrome | Arthrogryposis spectrum | |
CHRND | q37.1 | Microcephaly - other | Microcephaly | |
CHRNG | q37.1 | Microcephaly - other | Microcephaly | |
CHRNG | q37.1 | Multiple pterygium syndrome | Arthrogryposis spectrum | |
ECEL1 | q37.1 | Distal arthrogryposis type 5 | Arthrogryposis spectrum | |
GIGYF2 | q37.1 | Parkinson Disease type 11 | Parkinsonism | |
PRSS56 | q37.1 | Microphthalmia syndromic 6 (MCOPS6) | Microphthalmia | |
CAPN10 | q37.3 | Type 2 Diabetes | Diabetes | |
D2HGDH | q37.3 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
HDAC4 | q37.3 | Brachydactyly-mental retardation syndrome | Autism spectrum | |
PER2 | q37.3 | Seasonal affective disorder | Sleep disorders | |
PER2 | q37.3 | Autism 18 (AUTS18) | Autism spectrum | |