Gene |
Location |
Syndrome |
Category |
CERS1 | p13.11 | progressive myoclonic epilepsy 8 | Epilepsy and seizures | |
GDF1 | p13.11 | heterotaxy syndrome | Heterotaxy | |
MPPH1 | p13.11 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | Autism spectrum | |
MYO9B | p13.11 | Ulcerative colitis | Irritable Bowel Disorders | |
PIK3R2 | p13.11 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Autism spectrum | |
SLC5A5 | p13.11 | Congenital hypothyroidism | Hypothyroidism | |
TM6SF2 | p13.11 | Non-alcoholic fatty liver disease | Diabetes | |
CASP14 | p13.12 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
CYP4F22 | p13.12 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
CYP4F22 | p13.12 | Lamellar ichthyosis | Alopecia | |
MRT3 | p13.12 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 3 | Autism spectrum | |
NOTCH3 | p13.12 | Cerebral autosomal dominant arteriopathy (CADASIL) | Epilepsy and seizures | |
CACNA1A | p13.13 | Spinocerebellar ataxia type 06 | Ataxia spectrum | |
CACNA1A | p13.13 | Episodic ataxia | Ataxia spectrum | |
EIEE42 | p13.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 42 | Autism spectrum | |
MAN2B1 | p13.13 | Alpha-mannosidosis | Panic phobia anxiety | |
MAN2B1 | p13.13 | Alpha-mannosidosis type 1 | Ataxia spectrum | |
MAN2B1 | p13.13 | Alpha-mannosidosis type 2 | Cataracts | |
MAST1 | p13.13 | MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1 | Autism spectrum | |
MCCCHCM | p13.13 | MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA | Autism spectrum | |
NECFM | p13.13 | NEURODEVELOPMENTAL DISORDER 05 | Autism spectrum | |
RNASEH2A | p13.13 | Microcephaly - other | Microcephaly | |
SOTOS2 | p13.13 | SOTOS SYNDROME 2 | Autism spectrum | |
ACP5 | p13.2 | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) | Hypothyroidism | |
ANGPTL4 | p13.2 | Type 2 Diabetes | Diabetes | |
CD320 | p13.2 | Methylmalonic aciduria - transient - due to transcobalamin receptor defect | Vitamin B12 metabolism spectrum | |
DNMT1 | p13.2 | Autosomal dominant cerebellar ataxia deafness and narcolepsy | Ataxia spectrum | |
INSR | p13.2 | Rabson-Mendenhall syndrome | Diabetes | |
PNPLA6 | p13.2 | Gordon Holmes syndrome | Ataxia spectrum | |
RETN | p13.2 | Type 2 Diabetes | Diabetes | |
RNASEH2A | p13.2 | Aicardi-Goutieres Syndrome | Autism spectrum | |
SMARCA4 | p13.2 | Microcephaly - other | Microcephaly | |
TYK2 | p13.2 | Crohn Disease | Irritable Bowel Disorders | |
TYK2 | p13.2 | Rheumatoid arthritis | Arthritis | |
ABCA7 | p13.3 | Alzheimer - late onset | Alzheimer Syndrome | |
AP3D1 | p13.3 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
ATCAY | p13.3 | Cerebellar ataxia cayman type | Ataxia spectrum | |
CCDS2 | p13.3 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | Autism spectrum | |
CLPP | p13.3 | Perrault syndrome | Ataxia spectrum | |
GAMT | p13.3 | Guanidinoacetate methyltransferase deficiency | Autism spectrum | |
MAP2K2 | p13.3 | Noonan syndrome | Autism spectrum | |
MAP2K2 | p13.3 | Cardiofaciocutaneous syndrome | Autism spectrum | |
PIP5K1C | p13.3 | Lethal arthrogryposis with anterior horn cell disease | Arthrogryposis spectrum | |
SOTOS3 | p13.3 | SOTOS SYNDROME 3 | Autism spectrum | |
TUBB4A | p13.3 | TUBB4A-related leukodystrophy | Ataxia spectrum | |
MEGF8 | q12 | Carpenter Syndrome | Autism spectrum | |
TSHZ3 | q12 | TSHZ3 haploinsufficiency | Autism spectrum | |
GPI | q13.1 | Glucose phosphate isomerase deficiency | Tachycardia (>100 beats/minute) | |
SCN1B | q13.11 | Genetic epilepsy with febrile seizures plus | Epilepsy and seizures | |
SCN1B | q13.11 | Genetic epilepsy with febrile seizures plus | Ataxia spectrum | |
SLC7A9 | q13.11 | CYSTINURIA TYPE A | Autism spectrum | |
WDR62 | q13.12 | Autosomal recessive primary microcephaly | Microcephaly | |
SIPA1L3 | q13.13 | Cataract 45 (CTRCT45) | Cataracts | |
AKT2 | q13.2 | Familial partial lipodystrophy | Diabetes | |
APOE | q13.2 | Alzheimer - late onset | Alzheimer Syndrome | |
ATP1A3 | q13.2 | Rapid-onset dystonia parkinsonism | Panic phobia anxiety | |
CAPOS | q13.2 | CEREBELLAR ATAXIA AREFLEXIA PES CAVUS OPTIC ATROPHY AND HEARING LOSS | Autism spectrum | |
COQ8B | q13.2 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
LIPE | q13.2 | Familial partial lipodystrophy | Diabetes | |
MRD45 | q13.2 | MENTAL RETARDATION AUTOSOMAL DOMINANT 45 | Autism spectrum | |
PLD3 | q13.2 | Alzheimer - late onset | Alzheimer Syndrome | |
RPS19 | q13.2 | Microcephaly - other | Microcephaly | |
RPS19 | q13.2 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
RYR1 | q13.2 | Multiminicore disease | Arthrogryposis spectrum | |
CIC | q13.2 | Autism 18 (AUTS18) | Autism spectrum | |
PNKP | q13.3-13.4 | Microcephaly seizures and developmental delay (MCSZ) | Microcephaly | |
BLOC1S3 | q13.32 | Hermansky-Pudlak syndrome | Irritable Bowel Disorders | |
DMPK | q13.32 | Arthrogryposis - other | Arthrogryposis spectrum | |
ERCC1 | q13.32 | Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) | Arthrogryposis spectrum | |
FKRP | q13.32 | Walker-Warburg syndrome | Microphthalmia | |
MRT41 | q13.32 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 41 | Autism spectrum | |
OPA3-both | q13.32 | Costeff syndrome | Cataracts | |
OPA3-one | q13.32 | Autosomal dominant optic atrophy and cataract (ADOAC) | Cataracts | |
CRX | q13.33 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
EIEE46 | q13.33 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 46 | Autism spectrum | |
FTL | q13.33 | Hyperferritinemia-cataract syndrome | Cataracts | |
PNKP | q13.33 | Ataxia with oculomotor apraxia | Ataxia spectrum | |
RRAS | q13.33 | Noonan syndrome | Autism spectrum | |
SHANK1 | q13.33 | SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1 | Autism spectrum | |
TRPM4 | q13.33 | Progressive familial heart block | Bradycardia (<60 beats/minute) | |
TSEN34 | q13.4 | Pontocerebellar hypoplasia | Microcephaly | |
LIM2 | q13.41 | Cataract 19 multiple types (CTRCT19) | Cataracts | |
CNOT3 | q13.42 | Autism 18 (AUTS18) | Autism spectrum | |
MBOAT7 | q13.42 | Mental retardation autosomal recessive 57 | Autism spectrum | |
MBOAT7 | q13.42 | Non-alcoholic fatty liver disease | Diabetes | |
MRT57 | q13.42 | Mental retardation autosomal recessive 57 | Autism spectrum | |
PRKCG | q13.42 | Spinocerebellar ataxia type 14 | Ataxia spectrum | |
NLRP5 | q13.43 | NLR FAMILY PYRIN DOMAIN-CONTAINING 5 | Autism spectrum | |