Gene |
Location |
Syndrome |
Category |
CHMP2B | p11.2 | ALS | ALS - amyotrophic lateral sclerosis | |
FLJ20518 | p12.3 | Autism 18 (AUTS18) | Autism spectrum | |
GBE1 | p12.3 | Glycogen storage disease type IV (GSD IV) | Arthrogryposis spectrum | |
LOC401074 | p12.3 | Autism 18 (AUTS18) | Autism spectrum | |
MIR1324 | p12.3 | Autism 18 (AUTS18) | Autism spectrum | |
MIR4273 | p12.3 | Autism 18 (AUTS18) | Autism spectrum | |
ZNF717 | p12.3 | Autism 18 (AUTS18) | Autism spectrum | |
FOXP1 | p13 | Mental retardation with language impairment | Autism spectrum | |
PROK2 | p13 | Kallmann syndrome types 1 and 2 | Cleft lip / cleft palate | |
ATXN7 | p14.1 | Autosomal dominant cerebellar ataxias | Ataxia spectrum | |
PRICKLE2 | p14.1 | progressive myoclonic epilepsy 5 | Epilepsy and seizures | |
CACNA1D | p14.3 | Sinoatrial node dysfunction | Bradycardia (<60 beats/minute) | |
FNLB | p14.3 | Thyroid disorders | Hypothyroidism | |
PDHB | p14.3 | Pyruvate dehydrogenase deficiency | Ataxia spectrum | |
PXK | p14.3 | Rheumatoid arthritis | Arthritis | |
SCN5A | p21 | Sick sinus syndrome | Bradycardia (<60 beats/minute) | |
CACNA2D3 | p21.1 | Autism 18 (AUTS18) | Autism spectrum | |
DOCK3 | p21.2 | Alzheimer - late onset | Alzheimer Syndrome | |
GLYCTK | p21.2 | D-GLYCERIC ACIDURIA | Autism spectrum | |
AMT | p21.31 | GLYCINE ENCEPHALOPATHY | Autism spectrum | |
CCR5 | p21.31 | Type 1 Diabetes | Diabetes | |
DAG1 | p21.31 | Walker-Warburg syndrome | Microphthalmia | |
FYCO1 | p21.31 | Cataract 18 multiple types(CTRCT18) | Cataracts | |
GPX1 | p21.31 | Glutathione peroxidase deficiency | Pervasive Developmental Delay | |
LARS2 | p21.31 | Perrault syndrome | Ataxia spectrum | |
LLS | p21.31 | LUSCAN-LUMISH SYNDROME | Autism spectrum | |
NEDMIAL | p21.31 | NEURODEVELOPMENTAL DISORDER 12 | Autism spectrum | |
NPRL2 | p21.31 | Familial focal epilepsy with variable foci | Epilepsy and seizures | |
QARS | p21.31 | Microcephaly progressive with seizures cerebral/cerebellar atrophy (MSCCA) | Microcephaly | |
SETD2 | p21.31 | Huntington`s disease | Huntington`s disease spectrum | |
TDGF1 | p21.31 | Microcephaly - other | Microcephaly | |
TREX1 | p21.31 | Aicardi-Goutieres Syndrome | Autism spectrum | |
TREX1 | p21.31 | Microcephaly - other | Microcephaly | |
VERBRAS | p21.31 | VERVERI-BRADY SYNDROME | Autism spectrum | |
ABHD5 | p21.33 | Chanarin-Dorfman syndrome type 1 | Ataxia spectrum | |
ABHD5 | p21.33 | Chanarin-Dorfman syndrome type 2 | Cataracts | |
TGFBR2 | p22 | Loeys-Dietz syndrome | Asthma | |
ANO10 | p22.1 | Spinocerebellar ataxia autosomal recessive type 10 | Ataxia spectrum | |
CTNNB1 | p22.1 | CATENIN BETA-1 | Autism spectrum | |
NEDSDV | p22.1 | NEURODEVELOPMENTAL DISORDER 13 | Autism spectrum | |
POMGNT2 | p22.1 | Walker-Warburg syndrome | Microphthalmia | |
ACVR2B | p22.2 | heterotaxy syndrome | Heterotaxy | |
MYD88 | p22.2 | Waldenström macroglobulinemia | Ataxia spectrum | |
SCN10A | p22.2 | Small fiber neuropathy | Tachycardia (>100 beats/minute) | |
EOMES | p24.1 | Zaki-Gleeson syndrome | Autism spectrum | |
RARB | p24.2 | Thyroid disorders | Hypothyroidism | |
THRB | p24.2 | Generalized thyroid hormone resistance | Tachycardia (>100 beats/minute) | |
TOP2B | p24.2 | TOPOISOMERASE DNA II BETA | Autism spectrum | |
TOPB | p24.2 | Ataxia-telangiectasia | Ataxia spectrum | |
SGOL1 | p24.3 | Chronic atrial dysrhythmia | Bradycardia (<60 beats/minute) | |
ASPG4 | p24-21 | Asperger syndrome - classical | Asperger`s | |
SYN2 | p25 | Abnormal presynaptic function disorder | Autism spectrum | |
BTD | p25.1 | Biotinidase deficiency | Alopecia | |
TMEM43 | p25.1 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
WNT7A | p25.1 | ALS | ALS - amyotrophic lateral sclerosis | |
XPC | p25.1 | XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP C | Autism spectrum | |
PPARG | p25.2 | Familial partial lipodystrophy | Diabetes | |
PPARG | p25.2 | Type 2 Diabetes | Diabetes | |
RAF1 | p25.2 | Noonan syndrome | Autism spectrum | |
TSEN2 | p25.2 | Pontocerebellar hypoplasia | Microcephaly | |
CIDEC | p25.3 | Familial partial lipodystrophy | Diabetes | |
CIDEC | p25.3 | Type 2 Diabetes | Diabetes | |
CRELD1 | p25.3 | heterotaxy syndrome | Heterotaxy | |
FANCD2 | p25.3 | Microcephaly - other | Microcephaly | |
MAE | p25.3 | MYOCLONIC-ATONIC EPILEPSY | Autism spectrum | |
MRD23 | p25.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 23 | Autism spectrum | |
SETD5 | p25.3 | Mental retardation autosomal dominant 23 (MRD23) | Autism spectrum | |
SLC6A1 | p25.3 | Myoclonic epilepsy with ragged-red fibers (MERRF) | Epilepsy and seizures | |
VHL | p25.3 | Von Hippel-Lindau syndrome | Ataxia spectrum | |
ITPR1 | p26.1 | Spinocerebellar ataxia type 15 | Ataxia spectrum | |
ITPR1 | p26.1 | Gillespie syndrome | Ataxia spectrum | |
ITPR1 | p26.1 | Spinocerebellar ataxia type 29 | Ataxia spectrum | |
MRT2 | p26.2 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 2 | Autism spectrum | |
TRNT1 | p26.2 | TRNT1 deficiency | Ataxia spectrum | |
CNTN4 | p26.3 | 3p deletion syndrome | Autism spectrum | |
PCH11 | q12.1-2 | PONTOCEREBELLAR HYPOPLASIA TYPE 11 | Autism spectrum | |
PRIMS | q13.31 | Primrose syndrome | Autism spectrum | |
ZBTB20 | q13.31 | Primrose syndrome | Autism spectrum | |
IQCB1 | q13.33 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
ADCY5 | q21.1 | ADCY5-related dyskinesia | Panic phobia anxiety | |
ADCY5 | q21.1 | Type 2 Diabetes | Diabetes | |
HSPBAP1 | q21.1 | intractable epilepsy | Epilepsy and seizures | |
KALRN | q21.1 | Huntington`s disease | Huntington`s disease spectrum | |
ALG1L2 | q22.1 | Autism 18 (AUTS18) | Autism spectrum | |
BFSP2 | q22.1 | Cataract 12 multiple types (CTRCT12) | Autism spectrum | |
BFSP2 | q22.1 | Juvenile-onset progressive cataracts | Cataracts | |
FAM86HP | q22.1 | Autism 18 (AUTS18) | Autism spectrum | |
TRH | q22.1 | Hypothalamic hypothyroidism | Hypothyroidism | |
FOXL2 | q22.3 | Microcephaly - other | Microcephaly | |
MRD47 | q22.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 47 | Autism spectrum | |
RASA2 | q23 | Noonan syndrome | Autism spectrum | |
AGTR1 | q24 | Type 1 Diabetes | Diabetes | |
AUTS16 | q24 | AUTISM | Autism spectrum | |
C3ORF58 | q24 | CHROMOSOME 3 OPEN READING FRAME 58 | Autism spectrum | |
CRS6 | q24 | CRANIOSYNOSTOSIS 6 | Autism spectrum | |
HPS3 | q24 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
SLC9A9 | q24 | Autism 16 with epilepsy (AUTS16) | Autism spectrum | |
ZIC1 | q24 | ZIC FAMILY MEMBER 1 | Autism spectrum | |
ZIC4 | q24 | heterotaxy syndrome | Heterotaxy | |
CP | q24-5 | Aceruloplasminemia | Ataxia spectrum | |
MBNL1 | q25.1 | Dystrophia myotonica 1 (DM1) | Cataracts | |
MBNL1 | q25.1 | Corneal dystrophy Fuchs endothelial 3 (FECD3) | Cataracts | |
MRT70 | q25.32 | INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70 | Autism spectrum | |
ASPG1 | q25-27 | Asperger syndrome - classical | Asperger`s | |
AUTS8 | q25-q27 | AUTISM | Autism spectrum | |
SERPINI1 | q26.1 | Familial encephalopathy with neuroserpin inclusion bodies | Epilepsy and seizures | |
SLC2A2 | q26.2 | Type 2 Diabetes | Diabetes | |
NLGN1 | q26.31 | NEUROLIGIN 1 | Autism spectrum | |
MRD41 | q26.32 | MENTAL RETARDATION AUTOSOMAL DOMINANT 41 | Autism spectrum | |
TBL1XR1 | q26.32 | TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1 | Autism spectrum | |
DCUN1D1 | q26.33 | DCN1 DOMAIN-CONTAINING PROTEIN 1 | Autism spectrum | |
DNAJC19 | q26.33 | Dilated cardiomyopathy with ataxia syndrome | Ataxia spectrum | |
SOX2 | q26.33 | Microphthalmia syndromic 6 (MCOPS6) | Microphthalmia | |
CLCN2 | q27.1 | Juvenile myoclonic epilepsy | Epilepsy and seizures | |
CLCN2 | q27.1 | CLCN2-related leukoencephalopathy | Ataxia spectrum | |
EIF4G1 | q27.1 | Parkinson disease 18 | Parkinsonism |
MCCC1 | q27.1 | 3-methylcrotonyl-CoA carboxylase deficiency | Reye`s Syndrome-like diseases | |
IGF2BP2 | q27.2 | Gestational diabetes | Diabetes | |
LIPH | q27.2 | Autosomal recessive hypotrichosis | Alopecia | |
CRYGS | q27.3 | Cataract 20 multiple types (CTRCT20) | Cataracts | |
MASP1 | q27-28 | Michels syndrome | Cleft lip / cleft palate | |
P3H2 | q28 | Severe myopia with cataract and vitreoretinal degeneration (MCVD) | Cataracts | |
TP63 | q28 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | Cleft lip / cleft palate | |
EIEE47 | q28-q29 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 47 | Autism spectrum | |
DLG1 | q29 | 3q29 microdeletion syndrome | Autism spectrum | |
DLG3 | q29 | 3q29 microdeletion syndrome | Autism spectrum | |
OPA1-both | q29 | Behr syndrome | Ataxia spectrum | |
OPA1-one | q29 | Optic atrophy type 01 | Ataxia spectrum | |
PAK2 | q29 | 3q29 microdeletion syndrome | Autism spectrum | |
PAK3 | q29 | 3q29 microdeletion syndrome | Autism spectrum | |
RPL35A | q29 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
RPL35A | q29 | Microcephaly - other | Microcephaly | |
RUBCN | q29 | Spinocerebellar ataxia autosomal recessive type 15 | Ataxia spectrum | |
TNK2 | q29 | TYROSINE KINASE NONRECEPTOR 2 | Autism spectrum | |