Gene |
Location |
Syndrome |
Category |
RAB23 | p11 | Carpenter Syndrome | Autism spectrum | |
ELOVL5 | p12.1 | Spinocerebellar ataxia type 38 | Ataxia spectrum | |
EFHC1 | p12.2 | Juvenile myoclonic epilepsy | Epilepsy and seizures | |
IL17A | p12.2 | INTERLEUKIN 17A | Autism spectrum | |
MUT | p12.3 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
TFAP2B | p12.3 | Type 2 Diabetes | Diabetes | |
PLA2G7 | p12-21.2 | Asthma-related traits (ASRT) | Asthma | |
PMM2 | p13.2 | PMM2-congenital disorder of glycosylation | Ataxia spectrum | |
PPP2R5D | p21.1 | PPP2R5D-related intellectual disability | Autism spectrum | |
VEGFA | p21.1 | microvascular complications of diabetes 1 | Diabetes | |
BTBD9 | p21.2 | Restless legs syndrome | Sleep disorders | |
GLO1 | p21.2 | GLYOXALASE I | Autism spectrum | |
HFE | p21.3 | X-linked sideroblastic anemia | Tachycardia (>100 beats/minute) | |
HLA-DQA1 | p21.3 | Gluten allergy | Gluten intolerance | |
HLA-DQB1 | p21.3 | Gluten allergy | Gluten intolerance | |
HLA-DRB1 | p21.3 | Graves Disease | Bradycardia (<60 beats/minute) | |
MOCS1 | p21.3 | Molybdenum cofactor deficiency | Microcephaly | |
FANCE | p21.31 | Microcephaly - other | Microcephaly | |
ITPR3 | p21.31 | Type 1 Diabetes | Diabetes | |
LEMD2 | p21.31 | Cataract 46 juvenile-onset (CTRCT46) | Cataracts | |
MC3DN7 | p21.31 | MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 7 | Autism spectrum | |
PNPLA1 | p21.31 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
RPS10 | p21.31 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
RPS10 | p21.31 | Microcephaly - other | Microcephaly | |
TULP1 | p21.31 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
UQCC2 | p21.31 | Mitochondrial complex III deficiency nuclear 7 (MC3DN7) | Autism spectrum | |
BTNL2 | p21.32 | Ulcerative colitis | Irritable Bowel Disorders | |
BTNL2 | p21.32 | Type 1 Diabetes | Diabetes | |
COL11A2 | p21.32 | Fibrochondrogenesis type 2 | Fibrochondrogenesis | |
HLA-DPB1 | p21.32 | Rheumatoid arthritis | Arthritis | |
HLA-DQA1 | p21.32 | Narcolepsy | Sleep disorders | |
HLA-DQA1 | p21.32 | Type 1 Diabetes | Diabetes | |
HLA-DQB1 | p21.32 | Narcolepsy | Sleep disorders | |
HLA-DQB1 | p21.32 | Type 1 Diabetes | Diabetes | |
HLA-DRB1 | p21.32 | Graves disease - overactive thyroid | Hyperthyroidism | |
HLA-DRB1 | p21.32 | Type 1 Diabetes | Diabetes | |
HLA-DRB1 | p21.32 | Rheumatoid arthritis | Arthritis | |
HLA-DRB1 | p21.32 | Narcolepsy | Sleep disorders | |
HLA-DRB1 | p21.32 | Hashimoto thyroiditis | Hypothyroidism | |
HLA-DRB1 | p21.32 | Crohn Disease | Irritable Bowel Disorders | |
SYNGAP1 | p21.32 | Mental retardation autosomal dominant 05 (MRD5) | Autism spectrum | |
MRD5 | p21.32 | MENTAL RETARDATION AUTOSOMAL DOMINANT 5 | Autism spectrum | |
C4A | p21.33 | Type 1 Diabetes | Diabetes | |
HLA-B | p21.33 | SJS/TEN Stevens-Johnson syndrome/toxic epidermal necrolysis | Alopecia | |
HLA-B | p21.33 | Rheumatoid arthritis | Arthritis | |
NEU1 | p21.33 | Sialidosis | Ataxia spectrum | |
NFKBIL1 | p21.33 | Rheumatoid arthritis | Arthritis | |
TNF | p21.33 | Narcolepsy | Sleep disorders | |
TNF | p21.33 | Guillain-Barré syndrome | Guillain-Barre spectrum | |
ZFP57 | p22.1 | 6q24-related transient neonatal diabetes mellitus | Diabetes | |
ALDH5A1 | p22.3 | Succinic semialdehyde dehydrogenase deficiency | Panic phobia anxiety | |
ATXN1 | p22.3 | Spinocerebellar ataxia type 01 | Ataxia spectrum | |
CDKAL1 | p22.3 | Gestational diabetes | Diabetes | |
DCDC2 | p22.3 | Dyslexia type 2 | Dyslexia | |
DTNBP1 | p22.3 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
KIAA0319 | p22.3 | Dyslexia type 2 | Dyslexia | |
NHLRC1 | p22.3 | Lafora progressive myoclonus epilepsy | Epilepsy and seizures | |
SSADHD | p22.3 | Succinic semialdehyde dehydrogenase deficiency | Panic phobia anxiety | |
TPMT | p22.3 | Crohn Disease | Irritable Bowel Disorders | |
DSP | p24 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
TFAP2A | p24 | Branchio-oculo-facial syndrome | Cleft lip / cleft palate | |
EIEE70 | p24.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 70 | Autism spectrum | |
DSP | p24.3 | LAEB lethal acantholytic epidermolysis bullosa | Alopecia | |
INTLQ2 | p25.3-p22. | INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2 | Autism spectrum | |
ADHD3 | q12 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER | Autism spectrum | |
PHF3 | q12 | Autism 18 (AUTS18) | Autism spectrum | |
LMBRD1 | q13 | methylmalonic acidemia with homocystinuria | Vitamin B12 metabolism spectrum | |
LMBRD1 | q13 | Microcephaly - other | Microcephaly | |
RIMS1 | q13 | Cone-rod dystrophy 7 | Autism spectrum | |
SLC17A5 | q13 | Sialic acid storage disease | Ataxia spectrum | |
DIDOD | q14.1 | DEVELOPMENTAL DELAY INTELLECTUAL DISABILITY OBESITY DYSMORPHIC FEATURES | Autism spectrum | |
LCA5 | q14.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
PHIP | q14.1 | Developmental delay intellectual disability obesity and dysmorphic features | Autism spectrum | |
SCAR20 | q14.3 | SPINOCEREBELLAR ATAXIA AUTOSOMAL RECESSIVE 20 | Autism spectrum | |
CDG2F | q15 | CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIf | Autism spectrum | |
RARS2 | q16.1 | Pontocerebellar hypoplasia | Microcephaly | |
FIG4 | q21 | ALS | ALS - amyotrophic lateral sclerosis | |
PDSS2 | q21 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
PRDM1 | q21 | Rheumatoid arthritis | Arthritis | |
RTN4IP1 | q21 | Optic atrophy with ataxia mental retardation and seizures type 10 | Ataxia spectrum | |
SESN1 | q21 | heterotaxy syndrome | Heterotaxy | |
MRD55 | q22.1 | Mental retardation autosomal dominant 55 with seizures | Epilepsy and seizures | |
NUS1 | q22.1 | Mental retardation autosomal dominant 55 with seizures | Epilepsy and seizures | |
RFX6 | q22.1 | Mitchell-Riley syndrome | Diabetes | |
GJA1 | q22.31 | heterotaxy syndrome | Heterotaxy | |
GJA1 | q22.31 | Oculodentodigital dysplasia | Microcephaly | |
TRDN | q22.31 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
ARG1 | q23.2 | Arginase deficiency | Ataxia spectrum | |
ENPP1 | q23.2 | Type 2 Diabetes | Diabetes | |
MED23 | q23.2 | Thyroid disorders | Hypothyroidism | |
AHI1 | q23.3 | ABELSON HELPER INTEGRATION SITE 1 | Autism spectrum | |
PBD9B | q23.3 | PEROXISOME BIOGENESIS DISORDER 9B | Autism spectrum | |
PEX7 | q23.3 | Rhizomelic chondrodysplasia punctata type 1 | Rhizomelic chondrodysplasia punctata | |
PEX7 | q23.3 | Refsum disease | Ataxia spectrum | |
TNFAIP3 | q23.3 | Rheumatoid arthritis | Arthritis | |
CITED2 | q24.1 | heterotaxy syndrome | Heterotaxy | |
HIVEP2 | q24.2 | HIVEP2-related intellectual disability | Panic phobia anxiety | |
HYMAI | q24.2 | 6q24-related transient neonatal diabetes mellitus | Diabetes | |
MRD43 | q24.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 43 | Autism spectrum | |
PLAGL1 | q24.2 | 6q24-related transient neonatal diabetes mellitus | Diabetes | |
EPM2A | q24.3 | Lafora progressive myoclonus epilepsy | Epilepsy and seizures | |
IYD | q25.1 | Congenital hypothyroidism | Hypothyroidism | |
SUMO4 | q25.1 | Type 1 Diabetes | Diabetes | |
OPRM1 | q25.2 | OPIOID RECEPTOR MU-1 | Autism spectrum | |
SYNE1 | q25.2 | Autosomal recessive cerebellar ataxia type 01 | Ataxia spectrum | |
ARID1B | q25.3 | Coffin-Siris syndrome 1 | Autism spectrum | |
ARID1B | q25.3 | Microcephaly - other | Microcephaly | |
CSS1 | q25.3 | Coffin-Siris syndrome 1 | Autism spectrum | |
TAGAP | q25.3 | Rheumatoid arthritis | Arthritis | |
PACRG | q26 | Cerebral palsy - unassigned | Cerebral palsy | |
PARK2 | q26 | Autism 18 (AUTS18) | Autism spectrum | |
PRKN | q26 | Parkinson disease - other | Parkinsonism | |
CCR6 | q27 | Rheumatoid arthritis | Arthritis | |
FGFR1OP | q27 | Crohn Disease | Irritable Bowel Disorders | |
RNASET2 | q27 | Microcephaly - other | Microcephaly | |
TBP | q27 | Huntington disease-like syndrome type 4 | Huntington`s disease spectrum | |
TBP | q27 | Parkinson disease susceptability | Parkinsonism |