Gene |
Location |
Syndrome |
Category |
DESSH | p12.1 | Desanto-Shinawi syndrome | Autism spectrum | |
PDSS1 | p12.1 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
WAC | p12.1 | Desanto-Shinawi syndrome | Autism spectrum | |
PTF1A | p12.2 | Zaki-Gleeson syndrome | Autism spectrum | |
CUBN | p13 | Imerslund-Grasbeck syndrome | Vitamin B12 metabolism spectrum | |
DCLRE1C | p13 | Omenn syndrome | Alopecia | |
OPTN | p13 | ALS | ALS - amyotrophic lateral sclerosis | |
PHYH | p13 | Refsum disease | Ataxia spectrum | |
VIM | p13 | Cataract 30 multiple types (CTRCT30) | Cataracts | |
GATA3 | p14 | Rheumatoid arthritis | Arthritis | |
IL2RA | p15.1 | Graves disease - overactive thyroid | Hyperthyroidism | |
IL2RA | p15.1 | Rheumatoid arthritis | Arthritis | |
IL2RA | p15.1 | Type 1 Diabetes | Diabetes | |
PRKCQ | p15.1 | Rheumatoid arthritis | Arthritis | |
DIP2C | p15.3 | Autism 18 (AUTS18) | Autism spectrum | |
MRD30 | p15.3 | MENTAL RETARDATION AUTOSOMAL DOMINANT 30 | Autism spectrum | |
ZMYND11 | p15.3 | ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11 | Autism spectrum | |
ALOX5 | q11.2 | Asthma-related traits (ASRT) | Asthma | |
RET | q11.21 | Thyroid disorders | Hypothyroidism | |
NCOA4 | q11.22 | Thyroid disorders | Hypothyroidism | |
ERCC6 | q11.23 | Cockayne syndrome | Microcephaly | |
ANK3 | q21 | Mental retardation autosomal recessive 37 (MRT37) | Autism spectrum | |
ARID5B | q21.2 | Rheumatoid arthritis | Arthritis | |
CCDC6 | q21.2 | Thyroid disorders | Hypothyroidism | |
DNA2 | q21.3 | Progressive external ophthalmoplegia | Ataxia spectrum | |
EGR2 | q21.3 | EARLY GROWTH RESPONSE 2 | Autism spectrum | |
HPANBH4 | q21.3 | HYPERPHENYLALANINEMIA MILD NON-BH4-DEFICIENT | Autism spectrum | |
JMJD1C | q21.3 | JUMONJI DOMAIN-CONTAINING PROTEIN 1C | Autism spectrum | |
RPS24 | q22 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
EIF4EBP2 | q22.1 | EUKARYOTIC TRANSLATION INITIATION FACTOR 4E-BINDING PROTEIN 2 | Autism spectrum | |
NODAL | q22.1 | heterotaxy syndrome | Heterotaxy | |
NODAL | q22.1 | Microcephaly - other | Microcephaly | |
SLC29A3 | q22.1 | Type 1 Diabetes | Diabetes | |
ADK | q22.2 | ADENOSINE KINASE | Autism spectrum | |
KAT6B | q22.2 | Microcephaly - other | Microcephaly | |
LRMDA | q22.2 | Oculocutaneous albinism - autosomal recessive | Photophobia - sensitivity to light | |
PLAU | q22.2 | Alzheimer - late onset | Alzheimer Syndrome | |
POLR3A | q22.3 | Pol III-related leukodystrophy | Ataxia spectrum | |
RPS24 | q22.3 | Microcephaly - other | Microcephaly | |
GLUD1 | q23.2 | Congenital hyperinsulinism | Diabetes | |
LDB3 | q23.2 | Myofibrillar myopathy | Muscular dystrophies | |
OPN4 | q23.2 | Seasonal affective disorder | Sleep disorders | |
CWS1 | q23.31 | COWDEN SYNDROME 1 | Autism spectrum | |
FAS | q23.31 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
HTR7 | q23.31 | 5-HYDROXYTRYPTAMINE RECEPTOR 7 | Autism spectrum | |
LIPN | q23.31 | Lamellar ichthyosis | Alopecia | |
PTEN | q23.31 | Thyroid disorders | Hypothyroidism | |
PTEN | q23.31 | Cowder Syndrome | Autism spectrum | |
LGI1 | q23.33 | Autosomal dominant partial epilepsy with auditory features | Epilepsy and seizures | |
PDE6C | q23.33 | Achromatopsia | Photophobia - sensitivity to light | |
HPSE2 | q23-24 | Ochoa syndrome | Cerebral palsy | |
ADCL3 | q24.1 | CUTIS LAXA AUTOSOMAL DOMINANT 3 | Autism spectrum | |
ALDH18A1 | q24.1 | Cutis laxa autosomal recessive 3A (ARCL3A) | Cataracts | |
CPN1 | q24.2 | Asthma-related traits (ASRT) | Asthma | |
HPS1 | q24.2 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
CWF19L1 | q24.31 | Spinocerebellar ataxia autosomal recessive type 17 | Ataxia spectrum | |
TWNK | q24.31 | Ataxia neuropathy spectrum | Ataxia spectrum | |
FGF8 | q24.32 | Microcephaly - other | Microcephaly | |
HOMGSMR1 | q24.32 | HYPOMAGNESEMIA SEIZURES AND MENTAL RETARDATION 1 | Autism spectrum | |
HPS6 | q24.32 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
PITX3 | q24.32 | Anterior segment dysgenesis 1 (ASGD1) | Cataracts | |
PITX3 | q24.32 | Cataract 11 multiple types (CTRCT11) | Cataracts | |
SMC3 | q25 | Cornelia de Lange Syndrome | Autism spectrum | |
COL17A1 | q25.1 | JEB Junctional epidermolysis bullosa | Alopecia | |
ADRA2A | q25.2 | Familial partial lipodystrophy | Diabetes | |
SHOC2 | q25.2 | Noonan syndrome-like disorder with loose anagen hair 1 | Autism spectrum | |
SMC3 | q25.2 | Microcephaly - other | Microcephaly | |
TCF7L2 | q25.2 | Gestational diabetes | Diabetes | |
TCF7L2 | q25.2-3 | Diabetes mellitus type 2 | Autism spectrum | |
HABP2 | q25.3 | Thyroid disorders | Hypothyroidism | |
FGFR2 | q26 | Crouzon syndrome | Cleft lip / cleft palate | |
VAX1 | q26.1 | Syndromic Microphthalmia | Cleft lip / cleft palate | |
BAG3 | q26.11 | Myofibrillar myopathy | Muscular dystrophies | |
HTRA1 | q26.13 | Cerebral autosomal recessive arteriopathy (CARASIL) | Alopecia | |
OAT | q26.13 | Gyrate atrophy | Cataracts | |
MMP21 | q26.2 | heterotaxy syndrome | Heterotaxy | |
EBF3 | q26.3 | Hypotonia ataxia and delayed development syndrome | Autism spectrum | |