Gene |
Location |
Syndrome |
Category |
ABHD12 | p11.21 | Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC) | Cataracts | |
CST3 | p11.21 | hereditary cerebral amyloid angiopathy | Alzheimer Syndrome | |
RIN2 | p11.23 | Macrocephaly with alopecia and cutis laxa and scoliosis (MACS syndrome) | Alopecia | |
SEC23B | p11.23 | Type 1 Diabetes | Diabetes | |
PLCB4 | p12 | Auriculo-condylar syndrome | Cleft lip / cleft palate | |
BFSP1 | p12.1 | Cataract 33 multiple types (CTRCT33) | Cataracts | |
PROKR2 | p12.3 | Kallmann syndrome types 1 and 2 | Cleft lip / cleft palate | |
CD40 | p12-13.2 | Alzheimer - late onset | Alzheimer Syndrome | |
ADAM33 | p13 | Asthma-related traits (ASRT) | Asthma | |
AVP | p13 | neurohypophyseal diabetes insipidus | Diabetes | |
NOP56 | p13 | Spinocerebellar ataxia type 36 | Ataxia spectrum | |
OCNDS | p13 | OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME | Autism spectrum | |
PRNP | p13 | Huntington disease-like syndrome type 1 | Huntington`s disease spectrum | |
PRNP | p13 | Wilson Disease - copper | Copper metabolism defects | |
PRNP | p13 | Wilson disease | Panic phobia anxiety | |
SLC52A3 | p13 | Brown-Vialetto-Van Laere syndrome (BVVLS) | Cerebral palsy | |
TGM6 | p13 | Spinocerebellar ataxia type 35 | Ataxia spectrum | |
WARBM4 | p13 | WARBURG MICRO SYNDROME 4 | Autism spectrum | |
CHMP4B | q11.22 | Cataract 31 multiple types (CTRCT31) | Cataracts | |
SAMHD1 | q11.23 | Microcephaly - other | Microcephaly | |
SAMHD1 | q11.23 | Aicardi-Goutieres Syndrome | Autism spectrum | |
TOP1 | q12 | TOPOISOMERASE DNA I | Autism spectrum | |
ADA | q13.12 | ADENOSINE DEAMINASE | Autism spectrum | |
CD40 | q13.12 | Rheumatoid arthritis | Arthritis | |
CD40 | q13.12 | Graves disease - overactive thyroid | Hyperthyroidism | |
CTSA | q13.12 | Galactosialidosis | Ataxia spectrum | |
HNF4A | q13.12 | Congenital hyperinsulinism | Diabetes | |
HNF4A | q13.12 | Type 2 Diabetes | Diabetes | |
HNF4A | q13.12 | Type 1 Diabetes | Diabetes | |
SLC2A10 | q13.12 | Type 2 Diabetes | Diabetes | |
ZNF335 | q13.12 | Microcephaly 10 primary autosomal recessive (MCPH10) | Microcephaly | |
ADNP | q13.13 | Helsmoortel-van der Aa syndrome | Autism spectrum | |
ARFGEF2 | q13.13 | Periventricular heterotopia | Microcephaly | |
KCNB1 | q13.13 | Epileptic encephalopathy early infantile 26 | Epilepsy and seizures | |
GNAS | q13.3 | McCune-Albright syndrome | Tachycardia (>100 beats/minute) | |
GNAS | q13.32 | McCune-Albright syndrome (overactive thyroid) | Hyperthyroidism | |
VAPB | q13.32 | ALS | ALS - amyotrophic lateral sclerosis | |
CHRNA4 | q13.33 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
DNAJC5 | q13.33 | CLN4 disease | Ataxia spectrum | |
EEF1A2 | q13.33 | EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-2 | Autism spectrum | |
EIEE33 | q13.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 33 | Autism spectrum | |
KCNQ2 | q13.33 | Benign familial neonatal seizures | Epilepsy and seizures | |
MRD38 | q13.33 | MENTAL RETARDATION AUTOSOMAL DOMINANT 38 | Autism spectrum | |