Gene |
Location |
Syndrome |
Category |
EXOSC3 | p11 | Pontocerebellar hypoplasia | Microcephaly | |
TPM2 | p13 | Distal arthrogryposis type 1 | Arthrogryposis spectrum | |
PAX5 | p13.2 | Autism 18 (AUTS18) | Autism spectrum | |
CCL21 | p13.3 | Rheumatoid arthritis | Arthritis | |
DNAI1 | p13.3 | heterotaxy syndrome | Heterotaxy | |
FANCG | p13.3 | Microcephaly - other | Microcephaly | |
GALT | p13.3 | Galactosemia (type I) | Galactosemia | |
MRT61 | p13.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 61 | Autism spectrum | |
PIGO | p13.3 | Mabry syndrome | Autism spectrum | |
RMRP | p13.3 | Gluten allergy | Gluten intolerance | |
SIGMAR1 | p13.3 | ALS | ALS - amyotrophic lateral sclerosis | |
VCP | p13.3 | ALS | ALS - amyotrophic lateral sclerosis | |
APTX | p21.1 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
C9orf72 | p21.2 | ALS | ALS - amyotrophic lateral sclerosis | |
IFT74 | p21.2 | ALS | ALS - amyotrophic lateral sclerosis | |
TYRP1 | p23 | Oculocutaneous albinism type 3 | Photophobia - sensitivity to light | |
MACID | p23-p22 | MACROCEPHALY ACQUIRED WITH IMPAIRED INTELLECTUAL DEVELOPMENT | Autism spectrum | |
GLDC | p24.1 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
JAK2 | p24.1 | Crohn Disease | Irritable Bowel Disorders | |
PTPRD | p24.1 | Restless legs syndrome | Sleep disorders | |
GLIS3 | p24.2 | Congenital hypothyroidism | Hypothyroidism | |
GLIS3 | p24.2 | Diabetes mellitus neonatal with congenital hypothyroidism | Diabetes | |
VLDLR | p24.2 | VLDLR-associated cerebellar hypoplasia | Ataxia spectrum | |
DOCK8 | p24.3 | Autosomal recessive hyper-IgE syndrome (AR-HIES) | Asthma | |
KANK1 | p24.3 | Cerebral palsy spastic quadriplegic type 2 (CPSQ2) disorder | Cerebral palsy | |
NCBRS | p24.3 | NICOLAIDES-BARAITSER SYNDROME | Autism spectrum | |
SMARCA2 | p24.3 | Microcephaly - other | Microcephaly | |
AK308561 | q13 | Autism 18 (AUTS18) | Autism spectrum | |
BC080605 | q13 | Autism 18 (AUTS18) | Autism spectrum | |
LOC642236 | q13 | Autism 18 (AUTS18) | Autism spectrum | |
FXN | q21.11 | Friedreich ataxia | Ataxia spectrum | |
EIG15 | q21.13 | EPILEPSY IDIOPATHIC GENERALIZED SUSCEPTIBILITY TO 15 | Autism spectrum | |
VPS13A | q21.2 | Chorea-acanthocytosis | Panic phobia anxiety | |
EIEE58 | q21.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 58 | Autism spectrum | |
OBHD | q21.33 | OBESITY HYPERPHAGIA AND DEVELOPMENTAL DELAY | Autism spectrum | |
TGFBR1 | q22 | Loeys-Dietz syndrome | Asthma | |
SECISBP2 | q22.2 | Thyroid disorders | Hypothyroidism | |
AUH | q22.31 | 3-methylglutaconyl-CoA hydratase deficiency | Ataxia spectrum | |
PHF2 | q22.31 | Autism 18 (AUTS18) | Autism spectrum | |
FANCC | q22.32 | Microcephaly - other | Microcephaly | |
PTCH1 | q22.32 | Microcephaly - other | Microcephaly | |
EIEE59 | q22.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 59 | Autism spectrum | |
FOXE1 | q22.33 | Thyroid disorders | Hypothyroidism | |
NDPLHS | q22.33 | NEURODEVELOPMENTAL DISORDER 04 | Autism spectrum | |
TDRD7 | q22.33 | Cataract 36 (CTRCT36) | Cataracts | |
ABCA1 | q31.1 | Type 2 Diabetes | Diabetes | |
NR4A3 | q31.1 | Thyroid disorders | Hypothyroidism | |
ZNF462 | q31.2 | Mental retardation autosomal dominant 40 | Autism spectrum | |
GSN | q33 | Lattice corneal dystrophy type II | Cerebral palsy | |
C5 | q33.2 | Rheumatoid arthritis | Arthritis | |
CDK5RAP2 | q33.2 | Autosomal recessive primary microcephaly | Microcephaly | |
TRAF1 | q33.2 | Rheumatoid arthritis | Arthritis | |
ADAMTS13 | q34 | Thrombotic thrombocytopenic purpura | Tachycardia (>100 beats/minute) | |
TSC1 | q34 | Tuberous sclerosis complex | Autism spectrum | |
ASS1 | q34.11 | Citrullinemia | Ataxia spectrum | |
COQ4 | Q34.11 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
GLE1 | q34.11 | Lethal arthrogryposis with anterior horn cell disease | Arthrogryposis spectrum | |
MIR2861 | q34.11 | Thyroid disorders | Hypothyroidism | |
STXBP1 | q34.11 | STXBP1 encephalopathy with epilepsy | Epilepsy and seizures | |
WDR34 | q34.11 | Short-rib thoracic dysplasia 13 | Cleft lip / cleft palate | |
ABL1 | q34.12 | Acute lymphoblastic leukemia | Leukemia | |
MDDGB1 | q34.13 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE B 1 | Autism spectrum | |
MED27 | q34.13 | Autism 18 (AUTS18) | Autism spectrum | |
POMT1 | q34.13 | Walker-Warburg syndrome | Microphthalmia | |
RAPGEF1 | q34.13 | Cerebral palsy - unassigned | Cerebral palsy | |
SETX | q34.13 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
SETX | q34.13 | ALS | ALS - amyotrophic lateral sclerosis | |
RPL7A | q34.2 | Thyroid disorders | Hypothyroidism | |
AGPAT2 | q34.3 | Type 2 Diabetes | Diabetes | |
EHMT1 | q34.3 | Kleefstra sndrome | Autism spectrum | |
EHMT1 | q34.3 | Microcephaly - other | Microcephaly | |
GRIN1 | q34.3 | GLUTAMATE RECEPTOR IONOTROPIC N-METHYL-D-ASPARTATE SUBUNIT 1 | Autism spectrum | |
JBTS1 | q34.3 | JOUBERT SYNDROME 1 | Autism spectrum | |
KCNT1 | q34.3 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
KCNT1 | q34.3 | Microcephaly - other | Microcephaly | |
KLEFS1 | q34.3 | KLEEFSTRA SYNDROME 1 | Autism spectrum | |
MRT15 | q34.3 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 15 | Autism spectrum | |
NDHMSD | q34.3 | NEURODEVELOPMENTAL DISORDER 01 | Autism spectrum | |
NDHMSR | q34.3 | NEURODEVELOPMENTAL DISORDER 02 | Autism spectrum | |
PMPCA | q34.3 | Spinocerebellar ataxia autosomal recessive type 02 | Ataxia spectrum | |