Gene |
Location |
Syndrome |
Category |
PHF21A | p11 | Potocki-Shaffer syndrome | Autism spectrum | |
ALX4 | p11.2 | Potocki-Shaffer syndrome | Autism spectrum | |
CDG2C | p11.2 | CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc | Autism spectrum | |
CRY2 | p11.2 | Seasonal affective disorder | Sleep disorders | |
MAPK8IP1 | p11.2 | Type 2 Diabetes | Diabetes | |
RAPSN | p11.2 | Microcephaly - other | Microcephaly | |
RAPSN | p11.2 | Arthrogryposis - other | Arthrogryposis spectrum | |
EXT2 | p11-12 | Potocki-Shaffer syndrome | Autism spectrum | |
RAG1 | p12 | Omenn syndrome | Alopecia | |
RAG2 | p12 | Omenn syndrome | Alopecia | |
TRAF6 | p12 | Rheumatoid arthritis | Arthritis | |
AN1 | p13 | ANIRIDIA 1 | Autism spectrum | |
AN2 | p13 | ANIRIDIA 2 | Autism spectrum | |
BDNF | p13 | WAGR Syndrome | Autism spectrum | |
CAT | p13 | Type 2 Diabetes | Diabetes | |
CAT | p13 | Acatalasemia | Hyperlipidemia | |
ELP4 | p13 | ELONGATOR ACETYLTRANSFERASE COMPLEX SUBUNIT 4 | Autism spectrum | |
NAT10 | p13 | heterotaxy syndrome | Heterotaxy | |
PAX6 | p13 | WAGR Syndrome | Autism spectrum | |
PAX6 | p13 | aniridia | Photophobia - sensitivity to light | |
PAX6 | p13 | Gillespie syndrome | Ataxia spectrum | |
PDHX | p13 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
WT1 | p13 | WAGR Syndrome | Autism spectrum | |
FSHB | p14.1 | Thyroid disorders | Hypothyroidism | |
FANCF | p14.3 | Microcephaly - other | Microcephaly | |
ABCC8 | p15.1 | Congenital hyperinsulinism | Diabetes | |
ABCC8 | p15.1 | Permanent neonatal diabetes mellitus | Diabetes | |
HPS5 | p15.1 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
KCNJ11 | p15.1 | Congenital hyperinsulinism | Diabetes | |
KCNJ11 | p15.1 | Gestational diabetes | Diabetes | |
KCNJ11 | p15.1 | Permanent neonatal diabetes mellitus | Diabetes | |
SLC6A5 | p15.1 | hereditary hyperekplexia | Epilepsy and seizures | |
ARNTL | p15.3 | Seasonal affective disorder | Sleep disorders | |
FAR1 | p15.3 | Microcephaly - other | Microcephaly | |
CDKN1C | p15.4 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
PGAP2 | p15.4 | Mabry syndrome | Autism spectrum | |
SMPD1 | p15.4 | Niemann-Pick disease | Ataxia spectrum | |
TPP1 | p15.4 | Neuronal ceroid lipofuscinosis disease type 2 | Ataxia spectrum | |
VMLDS1 | p15.4 | VAN MALDERGEM SYNDROME 1 | Autism spectrum | |
CSTLO | p15.5 | COSTELLO SYNDROME | Autism spectrum | |
CTSD | p15.5 | Congenital neuronal ceroid lipofuscinosis (NCL) | Microcephaly | |
DEAF1 | p15.5 | DEFORMED EPIDERMAL AUTOREGULATORY FACTOR 1 HOMOLOG | Autism spectrum | |
DRD4 | p15.5 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
DYSEIDD | p15.5 | DYSKINESIA SEIZURES AND INTELLECTUAL DEVELOPMENTAL DISORDER | Autism spectrum | |
H19 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
HRAS | p15.5 | Thyroid disorders | Hypothyroidism | |
ICR1 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
INS | p15.5 | Permanent neonatal diabetes mellitus | Diabetes | |
INS | p15.5 | Type 1 Diabetes | Diabetes | |
KCNQ1 | p15.5 | Gestational diabetes | Diabetes | |
KCNQ1OT1 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
MRD24 | p15.5 | MENTAL RETARDATION AUTOSOMAL DOMINANT 24 | Autism spectrum | |
MUC2 | p15.5 | Crohn Disease | Irritable Bowel Disorders | |
MUC2 | p15.5 | Ulcerative colitis | Irritable Bowel Disorders | |
PNPLA2 | p15.5 | Neutral lipid storage disease with myopathy | Hypothyroidism | |
PNPLA2 | p15.5 | Type 2 Diabetes | Diabetes | |
TH | p15.5 | Tyrosine hydroxylase deficiency | Panic phobia anxiety | |
TNNI2 | p15.5 | Distal arthrogryposis type 2B (Sheldon-Hall syndrome) | Arthrogryposis spectrum | |
TNNT3 | p15.5 | Distal arthrogryposis type 2B (Sheldon-Hall syndrome) | Arthrogryposis spectrum | |
GGT1 | q11.23 | gamma-Glutamyltransferase deficiency | Polymorphous light eruption | |
CLP1 | q12 | Pontocerebellar hypoplasia | Microcephaly | |
GIF | q12.1 | Hereditary intrinsic factor deficiency | Vitamin B12 metabolism spectrum | |
CD5 | q12.2 | Rheumatoid arthritis | Arthritis | |
BEST1 | q12.3 | Autosomal dominant vitreoretinochoroidopathy (ADVIRC) | Cataracts | |
YAP1 | q13 | Yes associated protein 1 malformation | Cleft lip / cleft palate | |
NRXN2 | q13.1 | Pervasive Developmental Delay - not otherwise specified | Pervasive Developmental Delay | |
PACS1 | q13.1 | PACS1 syndrome | Autism spectrum | |
RNASEH2C | q13.1 | Aicardi-Goutieres Syndrome | Autism spectrum | |
RNASEH2C | q13.1 | Microcephaly - other | Microcephaly | |
SHMS | Q13.1-13.2 | SCHUURS-HOEIJMAKERS SYNDROME | Autism spectrum | |
B4GAT1 | q13.2 | Walker-Warburg syndrome | Microphthalmia | |
KMT5B | q13.2 | SHANK2 Deletion Syndrome | Autism spectrum | |
SHANK2 | q13.2 | SHANK2 Deletion Syndrome | Autism spectrum | |
SPTBN2 | q13.2 | Spinocerebellar ataxia autosomal recessive type 14 | Ataxia spectrum | |
SPTBN2 | q13.2 | Spinocerebellar ataxia type 05 | Ataxia spectrum | |
UNC93B1 | q13.2 | Herpes simplex encephalitis 1 (HSE1) | Encephalitis | |
MRD51 | q13.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 51 | Autism spectrum | |
CPT1A | q13.3 | Carnitine palmitoyltransferase I deficiency | Reye`s Syndrome-like diseases | |
AUTS17 | q13.3-q13. | AUTISM | Autism spectrum | |
CLPB | q13.4 | CLPB deficiency | Cataracts | |
DHCR7 | q13.4 | Smith-Lemli-Opitz syndrome | Autism spectrum | |
DHCR7 | q13.4 | Microcephaly - other | Microcephaly | |
FOLR1 | q13.4 | Cerebral folate transport deficiency | Ataxia spectrum | |
SLOS | q13.4 | Smith-Lemli-Opitz syndrome | Autism spectrum | |
UCP2 | q13.4 | Congenital hyperinsulinism | Diabetes | |
MED17 | q14 | Microcephaly postnatal progressive with seizures and brain atrophy | Microcephaly | |
PICALM | q14 | Alzheimer - late onset | Alzheimer Syndrome | |
GRM5 | q14.2-q14. | GLUTAMATE RECEPTOR METABOTROPIC 5 | Autism spectrum | |
MTNR1B | q14.3 | Gestational diabetes | Diabetes | |
TYR | q14.3 | Oculocutaneous albinism type 1 | Photophobia - sensitivity to light | |
MED17 | q21 | Thyroid disorders | Hypothyroidism | |
ATM | q22.3 | Ataxia-telangiectasia | Ataxia spectrum | |
CRYAB | q23.1 | Myofibrillar myopathy | Muscular dystrophies | |
DLAT | q23.1 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
SDHD | q23.1 | Thyroid disorders | Hypothyroidism | |
SORL1 | q23.2-24.2 | Alzheimer - late onset | Alzheimer Syndrome | |
APOC3 | q23.3 | Non-alcoholic fatty liver disease | Diabetes | |
CD3e | q23.3 | Type 1 Diabetes | Diabetes | |
ETS1 | q23.3 | Jacobsen syndrome | Autism spectrum | |
IL10RA | q23.3 | Ulcerative colitis | Irritable Bowel Disorders | |
KMT2A | q23.3 | Wiedemann-Steiner syndrome | Autism spectrum | |
MFRP | q23.3 | Microphthalmia isolated 5 (MCOP5) | Microphthalmia | |
PVRL1 | q23.3 | Non-syndromic orofacial cleft 7 | Cleft lip / cleft palate | |
SLC37A4 | q23.3 | Glycogen storage disease type I | Hyperlipidemia | |
SRMMD | q23.3 | SHORT STATURE RHIZOMELIC WITH MICROCEPHALY MICROGNATHIA AND DELAY | Autism spectrum | |
WDSTS | q23.3 | Wiedemann-Steiner syndrome | Autism spectrum | |
FLI1 | q24.1-24.3 | Jacobsen syndrome | Autism spectrum | |
HEPACAM | q24.2 | Megalencephalic leukoencephalopathy with subcortical cysts type 02 | Ataxia spectrum | |
MLC2A | q24.2 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A | Autism spectrum | |
MLC2B | q24.2 | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B | Autism spectrum | |
ROBO3 | q24.2 | Horizontal gaze palsy with progressive scoliosis (HGPPS) | Cerebral palsy | |
ARHGAP32 | q24.3 | Jacobsen syndrome | Autism spectrum | |
ARHGAP32 | q24.3 | ALS | ALS - amyotrophic lateral sclerosis | |
JAM3 | q25 | Hemorrhagic destruction of the brain with cataracts (HDBSCC) | Cataracts | |