Gene |
Location |
Syndrome |
Category |
DDX11 | p11 | Warsaw breakage syndrome | Microcephaly | |
PKP2 | p11 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
DNM1L | p11.21 | Alzheimer - late onset | Alzheimer Syndrome | |
BHLHE41 | p12.1 | Seasonal affective disorder | Sleep disorders | |
KRAS | p12.1 | Noonan syndrome | Autism spectrum | |
KRAS | p12.1 | Cardiofaciocutaneous syndrome | Autism spectrum | |
KRAS | p12.1 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
PDE6H | p12.3 | Achromatopsia | Photophobia - sensitivity to light | |
OLR1 | p12.3-13.2 | Alzheimer - late onset | Alzheimer Syndrome | |
CDKN1B | p13.1 | CYCLIN-DEPENDENT KINASE INHIBITOR 1B | Autism spectrum | |
EIEE27 | p13.1 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 27 | Autism spectrum | |
GRIN2B | p13.1 | Mental retardation autosomal dominant 06 (MRD6) | Autism spectrum | |
MRD6 | p13.1 | MENTAL RETARDATION AUTOSOMAL DOMINANT 6 | Autism spectrum | |
ETV6 | p13.2 | Acute myeloid leukemia | Leukemia | |
CACNA1C | p13.3 | Timothy Syndrome | Autism spectrum | |
EMG1 | p13.3 | Bowen-Conradi syndrome | Cleft lip / cleft palate | |
A2M | p13.31 | Alzheimer - late onset | Alzheimer Syndrome | |
A2ML1 | p13.31 | Noonan syndrome | Autism spectrum | |
ATN1 | p13.31 | Dentatorubral-pallidoluysian atrophy | Ataxia spectrum | |
C12ORF57 | p13.31 | CHROMOSOME 12 OPEN READING FRAME 57 | Autism spectrum | |
EMG1 | p13.31 | Microcephaly - other | Microcephaly | |
FAM86FP | p13.31 | Autism 18 (AUTS18) | Autism spectrum | |
FAM90A1 | p13.31 | Autism 18 (AUTS18) | Autism spectrum | |
GDF3 | p13.31 | Microphthalmia isolated with coloboma 3 (MCOPCB3) | Microphthalmia | |
LINC00937 | p13.31 | Autism 18 (AUTS18) | Autism spectrum | |
MCPH21 | p13.31 | MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
TEMTYS | p13.31 | TEMTAMY SYNDROME | Autism spectrum | |
VAMP1 | p13.31 | Spastic ataxia autosomal dominant type 01 | Ataxia spectrum | |
CCND2 | p13.32 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Autism spectrum | |
KCNA1 | p13.32 | Episodic ataxia | Ataxia spectrum | |
MRT66 | p13.32 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 66 | Autism spectrum | |
ERC1 | p13.33 | Thyroid disorders | Hypothyroidism | |
TS | p13.33 | Timothy Syndrome | Autism spectrum | |
LRRK2 | q12 | Crohn Disease | Irritable Bowel Disorders | |
LRRk2 | q12 | Parkinson disease - other | Parkinsonism | |
PRICKLE1 | q12 | PRICKLE1-related progressive myoclonus epilepsy with ataxia | Ataxia spectrum | |
ERBB3 | q13 | Lethal arthrogryposis with anterior horn cell disease | Arthrogryposis spectrum | |
PHC1 | q13 | Microcephaly 11 primary autosomal recessive (MCPH11) | Microcephaly | |
RPS26 | q13 | Diamond-Blackfan anemia | Cleft lip / cleft palate | |
VDR | q13.11 | Hereditary vitamin D-resistant rickets type 2 | Alopecia | |
MRT25 | q13.11-q15 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 25 | Autism spectrum | |
ADCY6 | q13.12 | Lethal congenital contracture syndrome 8 (LCCS8) | Arthrogryposis spectrum | |
AQP2 | q13.12 | Nephrogenic diabetes insipidus | Diabetes | |
KMT2D | q13.12 | Microcephaly - other | Microcephaly | |
LIS3 | q13.12 | LISSENCEPHALY 3 | Autism spectrum | |
OI15 | q13.12 | OSTEOGENESIS IMPERFECTA TYPE XV | Autism spectrum | |
PRPH | q13.12 | ALS | ALS - amyotrophic lateral sclerosis | |
TUBA1A | q13.12 | Microcephaly - other | Microcephaly | |
AAAS | q13.13 | Microcephaly - other | Microcephaly | |
EIEE13 | q13.13 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 13 | Autism spectrum | |
HNRNPA1 | q13.13 | ALS | ALS - amyotrophic lateral sclerosis | |
KRT18 | q13.13 | Cryptogenic cirrhosis | Diabetes | |
KRT3 | q13.13 | Meesmann corneal dystrophy | Photophobia - sensitivity to light | |
KRT8 | q13.13 | Cryptogenic cirrhosis | Diabetes | |
SCN8A | q13.13 | SCN8A-related epilepsy with encephalopathy | Epilepsy and seizures | |
RPS26 | q13.2 | Microcephaly - other | Microcephaly | |
SMARCC2 | q13.2 | Autism 18 (AUTS18) | Autism spectrum | |
SUOX | q13.2 | Isolated sulfite oxidase deficiency | Ataxia spectrum | |
KIF5A | q13.3 | Rheumatoid arthritis | Arthritis | |
PIP4K2C | q13.3 | Rheumatoid arthritis | Arthritis | |
STAC3 | q13.3 | Native American myopathy | Arthrogryposis spectrum | |
AGAP2 | q14.1 | Autism 18 (AUTS18) | Autism spectrum | |
AUTS13 | q14.2 | AUTISM | Autism spectrum | |
MDDGA10 | q14.2 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A 10 | Autism spectrum | |
RXYLT1 | q14.2 | Walker-Warburg syndrome | Microphthalmia | |
TBK1 | q14.2 | ALS | ALS - amyotrophic lateral sclerosis | |
GRIP1 | q14.3 | Fraser syndrome | Cleft lip / cleft palate | |
IRAK3 | q14.3 | Asthma-related traits 5 (ASRT5) | Asthma | |
IFNG | q15 | TUBEROUS SCLEROSIS 2 | Autism spectrum | |
ALX1 | q21.31 | Frontonasal dysplasia | Cleft lip / cleft palate | |
CEP290 | q21.32 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
LIS8 | q21.32 | LISSENCEPHALY 8 | Autism spectrum | |
DCN | q21.33 | Congenital stromal corneal dystrophy | Photophobia - sensitivity to light | |
CRADD | q21.33-23 | Mental retardation autosomal recessive 34 (MRT34) | Autism spectrum | |
MRT34 | q22 | MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALY | Autism spectrum | |
MYBPC1 | q23.2 | Distal arthrogryposis type 1 | Arthrogryposis spectrum | |
PAH | q23.2 | Microcephaly - other | Microcephaly | |
PKU | q23.2 | PHENYLKETONURIA | Autism spectrum | |
CRY1 | q23.3 | Sleep-wake schedule disorder - delayed phase type | Sleep disorders | |
POLR3B | q23.3 | Pol III-related leukodystrophy | Ataxia spectrum | |
ANKLE2 | q24 | Microcephaly - other | Microcephaly | |
CIT | q24 | Microcephaly - other | Microcephaly | |
ISCU | q24.1 | Hereditary myopathy with lactic acidosis | Tachycardia (>100 beats/minute) | |
TBX5 | q24.1 | Holt-Oram syndrome | Bradycardia (<60 beats/minute) | |
ATP2A2 | q24.11 | Darier disease | Epilepsy and seizures | |
MMAB | q24.11 | methylmalonic acidemia | Vitamin B12 metabolism spectrum | |
MVK | q24.11 | Mevalonate kinase deficiency | Microcephaly | |
UBE3B | q24.11 | Microcephaly - other | Microcephaly | |
CUX2 | q24.11-12 | CUT-LIKE HOMEOBOX 2 | Autism spectrum | |
EIEE67 | q24.11-12 | EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 67 | Autism spectrum | |
ATXN2 | q24.12 | ALS | ALS - amyotrophic lateral sclerosis | |
ATXN2 | q24.12 | Spinocerebellar ataxia type 02 | Ataxia spectrum | |
ATXN2 | q24.12 | Parkinson disease susceptability | Parkinsonism |
SH2B3 | q24.12 | Type 2 Diabetes | Diabetes | |
HECTD4 | q24.13 | Autism 18 (AUTS18) | Autism spectrum | |
OAS1 | q24.13 | Type 1 Diabetes | Diabetes | |
PTPN11 | q24.13 | Thyroid disorders | Hypothyroidism | |
PTPN11 | q24.13 | Noonan syndrome | Autism spectrum | |
MED13L | q24.21 | Autism 18 (AUTS18) | Autism spectrum | |
MRFACD | q24.21 | MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES | Autism spectrum | |
NOS1 | q24.22 | NITRIC OXIDE SYNTHASE 1 | Autism spectrum | |
MCPH17 | q24.23 | MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVE | Autism spectrum | |
ACADS | q24.31 | Short-chain acyl-CoA dehydrogenase (SCAD) deficiency | Microcephaly | |
ACADS | q24.31 | Short-chain acyl-CoA dehydrogenase deficiency | Reye`s Syndrome-like diseases | |
HNF1A | q24.31 | Congenital hyperinsulinism | Diabetes | |
HNF1A | q24.31 | Type 1 Diabetes | Diabetes | |
HPD | q24.31 | Tyrosinemia type 03 | Ataxia spectrum | |