Gene |
Chromosome |
Location |
Syndrome |
Category |
C12ORF57 | 12 | p13.31 | CHROMOSOME 12 OPEN READING FRAME 57 | Autism spectrum | |
C3ORF58 | 3 | q24 | CHROMOSOME 3 OPEN READING FRAME 58 | Autism spectrum | |
C4A | 6 | p21.33 | Type 1 Diabetes | Diabetes | |
C5 | 9 | q33.2 | Rheumatoid arthritis | Arthritis | |
C9orf72 | 9 | p21.2 | ALS | ALS - amyotrophic lateral sclerosis | |
CA8 | 8 | q12.1 | Cerebellar ataxia mental retardation and dysequilibrium syndrome type 03 | Ataxia spectrum | |
CACNA1A | 19 | p13.13 | Spinocerebellar ataxia type 06 | Ataxia spectrum | |
CACNA1A | 19 | p13.13 | Episodic ataxia | Ataxia spectrum | |
CACNA1C | 12 | p13.3 | Timothy Syndrome | Autism spectrum | |
CACNA1D | 3 | p14.3 | Sinoatrial node dysfunction | Bradycardia (<60 beats/minute) | |
CACNA1F | 23 | p11.23 | cone-rod dystrophy | Photophobia - sensitivity to light | |
CACNA1H | 16 | p13.3 | childhood absence epilepsy 6 | Encephalitis | |
CACNA1S | 1 | q32 | Malignant hyperthermia | Tachycardia (>100 beats/minute) | |
CACNA2D3 | 3 | p21.1 | Autism 18 (AUTS18) | Autism spectrum | |
CACNB4 | 2 | q23.3 | Episodic ataxia | Ataxia spectrum | |
CACNB4 | 2 | q23.3 | Juvenile myoclonic epilepsy | Epilepsy and seizures | |
CADPS2 | 7 | q31.32 | CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2 | Autism spectrum | |
CAFDADD | 16 | p13.3 | CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY | Autism spectrum | |
CAKUTHED | 1 | q23.3 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME | Autism spectrum | |
CALM1 | 14 | q32.11 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
CALM2 | 2 | p21 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
CAMK2A | 5 | q32 | CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHA | Autism spectrum | |
CAMK4 | 5 | q22.1 | CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IV | Autism spectrum | |
CAMTA1 | 1 | P36.23-31 | CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1 | Autism spectrum | |
CANPMR | 1 | p36.23-31 | CEREBELLAR ATAXIA NONPROGRESSIVE WITH MENTAL RETARDATION | Autism spectrum | |
CAPN10 | 2 | q37.3 | Type 2 Diabetes | Diabetes | |
CAPOS | 19 | q13.2 | CEREBELLAR ATAXIA AREFLEXIA PES CAVUS OPTIC ATROPHY AND HEARING LOSS | Autism spectrum | |
CARD11 | 7 | p22.2 | Atopic dermatitis | Alopecia | |
CARD11 | 7 | p22.2 | Omenn syndrome | Alopecia | |
CARS2 | 13 | q34 | Combined oxidative phosphorylation deficiency 27 | Epilepsy and seizures | |
CASC5 | 15 | q14 | Microcephaly - other | Microcephaly | |
CASK | 23 | p11.4 | CASK-related intellectual disability | Microcephaly | |
CASP10 | 2 | q33.1 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
CASP14 | 19 | p13.12 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
CASP8 | 2 | q33.1 | Huntington`s disease | Huntington`s disease spectrum | |
CASP8 | 2 | q33.1 | Autoimmune lymphoproliferative syndrome | Guillain-Barre spectrum | |
CASQ2 | 1 | p13.1 | Catecholaminergic polymorphic ventricular tachycardia | Tachycardia (>100 beats/minute) | |
CAT | 11 | p13 | Acatalasemia | Hyperlipidemia | |
CAT | 11 | p13 | Type 2 Diabetes | Diabetes | |
CAVIN1 | 17 | q21.2 | Type 2 Diabetes | Diabetes | |
CBLN1 | 16 | q12.1 | PRECEREBELLIN 1 | Autism spectrum | |
CBS | 21 | q22.3 | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | Autism spectrum | |
CCBE1 | 18 | q21.32 | Microcephaly - other | Microcephaly | |
CCDC22 | 23 | p11.23 | Ritscher-Schinzel syndrome 2 (RTSC2) | Copper metabolism defects | |
CCDC6 | 10 | q21.2 | Thyroid disorders | Hypothyroidism | |
CCDS1 | 23 | q28 | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | Autism spectrum | |
CCDS2 | 19 | p13.3 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2 | Autism spectrum | |
CCDS3 | 15 | q21.1 | CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | Autism spectrum | |
CCE1 | 18 | q21.32 | Hennekam syndrome | Autism spectrum | |
CCL11 | 17 | q12 | Asthma-related traits (ASRT) | Asthma | |
CCL21 | 9 | p13.3 | Rheumatoid arthritis | Arthritis | |
CCND2 | 12 | p13.32 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome | Autism spectrum | |
CCR5 | 3 | p21.31 | Type 1 Diabetes | Diabetes | |
CCR6 | 6 | q27 | Rheumatoid arthritis | Arthritis | |
CD2 | 1 | p13.1 | Rheumatoid arthritis | Arthritis | |
CD28 | 2 | q33.2 | Rheumatoid arthritis | Arthritis | |
CD320 | 19 | p13.2 | Methylmalonic aciduria - transient - due to transcobalamin receptor defect | Vitamin B12 metabolism spectrum | |
CD3e | 11 | q23.3 | Type 1 Diabetes | Diabetes | |
CD40 | 20 | q13.12 | Graves disease - overactive thyroid | Hyperthyroidism | |
CD40 | 20 | p12-13.2 | Alzheimer - late onset | Alzheimer Syndrome | |
CD40 | 20 | q13.12 | Rheumatoid arthritis | Arthritis | |
CD5 | 11 | q12.2 | Rheumatoid arthritis | Arthritis | |
CD58 | 1 | p13.1 | Rheumatoid arthritis | Arthritis | |
CDAN1 | 15 | q15.2 | Type 1 Diabetes | Diabetes | |
CDC6 | 17 | q21.3 | Meier-Gorlin syndrome | Microcephaly | |
CDG2C | 11 | p11.2 | CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc | Autism spectrum | |
CDG2F | 6 | q15 | CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIf | Autism spectrum | |
CDH8 | 16 | q21 | CADHERIN 8 | Autism spectrum | |
CDK5RAP2 | 9 | q33.2 | Autosomal recessive primary microcephaly | Microcephaly | |
CDK6 | 7 | q21-q22 | Microcephaly 12 primary autosomal recessive (MCPH12) | Microcephaly | |
CDKAL1 | 6 | p22.3 | Gestational diabetes | Diabetes | |
CDKL5 | 23 | p22.13 | CDKL5 deficiency disorder | Epilepsy and seizures | |
CDKN1B | 12 | p13.1 | CYCLIN-DEPENDENT KINASE INHIBITOR 1B | Autism spectrum | |
CDKN1C | 11 | p15.4 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
CDLS1 | 5 | p13.2 | CORNELIA DE LANGE SYNDROME 1 | Autism spectrum | |
CDT1 | 16 | q24.3 | Meier-Gorlin syndrome | Microcephaly | |
CENPE | 4 | q24-q25 | Microcephaly 13 primary autosomal recessive (MCPH13) | Microcephaly | |
CENPJ | 13 | q12.12 | Autosomal recessive primary microcephaly | Microcephaly | |
CEP104 | 1 | p36.32 | Joubert syndrome | Autism spectrum | |
CEP120 | 5 | q23.2 | Short-rib thoracic dysplasia 13 | Cleft lip / cleft palate | |
CEP135 | 4 | q12 | Microcephaly 08 primary autosomal recessive (MCPH8) | Microcephaly | |
CEP152 | 15 | q21.1 | Autosomal recessive primary microcephaly | Microcephaly | |
CEP290 | 12 | q21.32 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
CEP41 | 7 | q32 | Joubert syndrome | Autism spectrum | |
CERS1 | 19 | p13.11 | progressive myoclonic epilepsy 8 | Epilepsy and seizures | |
CERS3 | 15 | q26.3 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |
CFAP53 | 18 | q21.1 | heterotaxy syndrome | Heterotaxy | |
CFC1 | 2 | q21.1 | heterotaxy syndrome | Heterotaxy | |
CFH | 1 | q32 | Atypical hemolytic-uremic syndrome | Tachycardia (>100 beats/minute) | |
CFTR | 7 | q31.2 | hereditary pancreatitis | Diabetes | |
CGF1 | 23 | p11.22 | Perrault syndrome | Ataxia spectrum | |
CHAMP1 | 13 | q34 | Mental retardation autosomal dominant 40 | Autism spectrum | |
CHCHD10 | 22 | q11.23 | ALS | ALS - amyotrophic lateral sclerosis | |
CHCHD2 | 7 | p11.2 | Parkinson disease autosomal dominant | Parkinsonism |
CHD1 | 5 | q15-21.1 | Pilarowski-Bjornsson syndrome | Autism spectrum | |
CHD2 | 15 | q26.1 | Epileptic encephalopathy early infantile 24 (EIEE24) | Autism spectrum | |
CHD3 | 17 | p13 | Snijders Blok-Campeau syndrome | Autism spectrum | |
CHD7 | 8 | q12.2 | CHARGE syndrome | Cleft lip / cleft palate | |
CHD8 | 14 | q11.2 | Autism 18 (AUTS18) | Autism spectrum | |
CHDFIDD | 7 | p14.1 | CONGENITAL HEART DEFECTS DYSMORPHIC FACIAL FEATURES | Autism spectrum | |
CHEK2 | 22 | q12.1 | Thyroid disorders | Hypothyroidism | |
CHI3L1 | 1 | q32.1 | Asthma-related traits 7 (ASRT7) | Asthma | |
CHKB | 22 | q13.33 | Narcolepsy | Sleep disorders | |
CHMP1A | 16 | q24.3 | Pontocerebellar hypoplasia | Microcephaly | |
CHMP2B | 3 | p11.2 | ALS | ALS - amyotrophic lateral sclerosis | |
CHMP4B | 20 | q11.22 | Cataract 31 multiple types (CTRCT31) | Cataracts | |
CHRM2 | 7 | q31-q35 | Cholinergic receptor muscarinic 2 | Bradycardia (<60 beats/minute) | |
CHRNA1 | 2 | q31.1 | Microcephaly - other | Microcephaly | |
CHRNA1 | 2 | q31.1 | Congenital myasthenic syndrome | Arthrogryposis spectrum | |
CHRNA2 | 8 | p21.2 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
CHRNA4 | 20 | q13.33 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
CHRNA7 | 15 | q13.3 | 15q13.3 microdeletion syndrome | Autism spectrum | |
CHRNB2 | 1 | q21.3 | Autosomal dominant nocturnal frontal lobe epilepsy | Epilepsy and seizures | |
CHRND | 2 | q37.1 | Microcephaly - other | Microcephaly | |
CHRND | 2 | q37.1 | Congenital myasthenic syndrome | Arthrogryposis spectrum | |
CHRNG | 2 | q37.1 | Multiple pterygium syndrome | Arthrogryposis spectrum | |
CHRNG | 2 | q37.1 | Microcephaly - other | Microcephaly | |
CIC | 19 | q13.2 | Autism 18 (AUTS18) | Autism spectrum | |
CIDEA | 18 | p11.21 | Type 2 Diabetes | Diabetes | |
CIDEC | 3 | p25.3 | Familial partial lipodystrophy | Diabetes | |
CIDEC | 3 | p25.3 | Type 2 Diabetes | Diabetes | |
CISD2 | 4 | q24 | Wolfram syndrome - diabetes mellitus | Diabetes | |
CISD2 | 4 | q24 | Wolfram syndrome | Ataxia spectrum | |
CIT | 12 | q24 | Microcephaly - other | Microcephaly | |
CITED2 | 6 | q24.1 | heterotaxy syndrome | Heterotaxy | |
CKAP2L | 2 | q14.1 | Microcephaly - other | Microcephaly | |
CLASP1 | 2 | q14.3 | Autism 18 (AUTS18) | Autism spectrum | |
CLCN2 | 3 | q27.1 | Juvenile myoclonic epilepsy | Epilepsy and seizures | |
CLCN2 | 3 | q27.1 | CLCN2-related leukoencephalopathy | Ataxia spectrum | |
CLEC16A | 16 | p13.13 | insulin-dependent diabetes mellitus | Diabetes | |
CLIP2 | 7 | q11.23 | Williams syndrome | Panic phobia anxiety | |
CLK2 | 1 | q22 | CDC-LIKE KINASE 2 | Autism spectrum | |
CLN5 | 13 | q22.3 | Neuronal ceroid lipofuscinosis disease type 05 | Ataxia spectrum | |
CLN6 | 15 | q23 | CLN6 disease | Ataxia spectrum | |
CLN8 | 8 | p23.3 | Neuronal ceroid lipofuscinosis disease type 08 | Ataxia spectrum | |
CLOCK | 4 | q12 | Seasonal affective disorder | Sleep disorders | |
CLP1 | 11 | q12 | Pontocerebellar hypoplasia | Microcephaly | |
CLPB | 11 | q13.4 | CLPB deficiency | Cataracts | |
CLPP | 19 | p13.3 | Perrault syndrome | Ataxia spectrum | |
CNGA3 | 2 | q11.2 | Achromatopsia | Photophobia - sensitivity to light | |
CNGB3 | 8 | q21.3 | Achromatopsia | Photophobia - sensitivity to light | |
CNOT3 | 19 | q13.42 | Autism 18 (AUTS18) | Autism spectrum | |
CNTN2 | 1 | q32.1 | familial adult myoclonic epilepsy 5 | Epilepsy and seizures | |
CNTN4 | 3 | p26.3 | 3p deletion syndrome | Autism spectrum | |
CNTNAP2 | 7 | q35 | Autism with cortical dysplasia-focal epilepsy syndrome | Autism spectrum | |
COG5 | 7 | q31 | Congenital disorder of glycosylation | Microcephaly | |
COL11A1 | 1 | p21.1 | Fibrochondrogenesis type 1 | Fibrochondrogenesis | |
COL11A2 | 6 | p21.32 | Fibrochondrogenesis type 2 | Fibrochondrogenesis | |
COL17A1 | 10 | q25.1 | JEB Junctional epidermolysis bullosa | Alopecia | |
COL25A1 | 4 | q25 | Alzheimer - late onset | Alzheimer Syndrome | |
COL4A1 | 13 | q34 | Familial porencephaly | Microcephaly | |
COLEC11 | 2 | p25.3 | Carnevale syndrome | Cleft lip / cleft palate | |
COMT | 22 | q11.21 | DiGeorge 22q11.2 deletion syndrome | Autism spectrum | |
CONDBA | 17 | q21.31 | NEURODEGENERATION CHILDHOOD-ONSET WITH BRAIN ATROPHY | Autism spectrum | |
CONDSIAS | 1 | p34.3 | NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCED | Autism spectrum | |
COQ2 | 4 | Q21.22 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
COQ2 | 4 | q21.22 | Multiple system atrophy | Ataxia spectrum | |
COQ4 | 9 | Q34.11 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
COQ6 | 14 | Q24.3 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
COQ7 | 16 | P12.3 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
COQ8A | 1 | Q42.13 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
COQ8B | 19 | q13.2 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
COQ9 | 16 | q21 | Primary coenzyme Q10 deficiency | Ataxia spectrum | |
COX20 | 1 | q44 | Cytochrome-c oxidase deficiency | Ataxia spectrum | |
CP | 3 | q24-5 | Aceruloplasminemia | Ataxia spectrum | |
CPA6 | 8 | q13.2 | familial temporal lobe epilepsy 5 | Epilepsy and seizures | |
CPCMR | 15 | q14 | Cleft palate cardiac defects and mental retardation | Cleft lip / cleft palate | |
CPEB4 | 5 | q35.2 | CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4 | Autism spectrum | |
CPN1 | 10 | q24.2 | Asthma-related traits (ASRT) | Asthma | |
CPT1A | 11 | q13.3 | Carnitine palmitoyltransferase I deficiency | Reye`s Syndrome-like diseases | |
CPT1B | 22 | q13.33 | Narcolepsy | Sleep disorders | |
CRADD | 12 | q21.33-23 | Mental retardation autosomal recessive 34 (MRT34) | Autism spectrum | |
CRB1 | 1 | q31.3 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
CREBBP | 16 | p13.3 | Rubinstein-Taybi syndrome | Autism spectrum | |
CRELD1 | 3 | p25.3 | heterotaxy syndrome | Heterotaxy | |
CRIPT | 2 | p21 | Short stature with microcephaly and distinctive facies (SSMF) | Microcephaly | |
CROCC | 1 | p36.13 | Autism 18 (AUTS18) | Autism spectrum | |
CRS3 | 15 | q21.3 | CRANIOSYNOSTOSIS 3 | Autism spectrum | |
CRS6 | 3 | q24 | CRANIOSYNOSTOSIS 6 | Autism spectrum | |
CRX | 19 | q13.33 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
CRY1 | 12 | q23.3 | Sleep-wake schedule disorder - delayed phase type | Sleep disorders | |
CRY2 | 11 | p11.2 | Seasonal affective disorder | Sleep disorders | |
CRYAA | 21 | q22.3 | Cataract 09 multiple types (CTRCT9) | Cataracts | |
CRYAB | 11 | q23.1 | Myofibrillar myopathy | Muscular dystrophies | |
CRYBA1 | 17 | q11.2 | Cataract 10 multiple types (CTRCT10) | Cataracts | |
CRYBB2 | 22 | q11.23 | Cataract 03 multiple types (CTRCT3) | Cataracts | |
CRYBB3 | 22 | q11.23 | Cataract 22 multiple types (CTRCT22) | Cataracts | |
CRYGB | 2 | q33.3 | Cataract 39 multiple types (CTRCT39) | Cataracts | |
CRYGC | 2 | q33.3 | Cataract 02 multiple types (CTRCT2) | Cataracts | |
CRYGD | 2 | q33.3 | Cataract 04 multiple types (CTRCT4) | Cataracts | |
CRYGS | 3 | q27.3 | Cataract 20 multiple types (CTRCT20) | Cataracts | |
CRYM | 16 | p12.2 | Thyroid disorders | Hypothyroidism | |
CSS1 | 6 | q25.3 | Coffin-Siris syndrome 1 | Autism spectrum | |
CST3 | 20 | p11.21 | hereditary cerebral amyloid angiopathy | Alzheimer Syndrome | |
CSTLO | 11 | p15.5 | COSTELLO SYNDROME | Autism spectrum | |
CTCF | 16 | q22.1 | CCCTC-BINDING FACTOR | Autism spectrum | |
CTDP1 | 18 | q23 | Congenital cataracts facial dysmorphism and neuropathy | Cataracts | |
CTLA4 | 2 | q33.2 | Graves disease - overactive thyroid | Hyperthyroidism | |
CTLA4 | 2 | q33.2 | Type 1 Diabetes | Diabetes | |
CTLA4 | 2 | q33 | Graves Disease | Bradycardia (<60 beats/minute) | |
CTLA4 | 2 | q33.2 | Hashimoto thyroiditis | Hypothyroidism | |
CTLA4 | 2 | q33.2 | Rheumatoid arthritis | Arthritis | |
CTNNB1 | 3 | p22.1 | CATENIN BETA-1 | Autism spectrum | |
CTNND2 | 5 | p15.2 | Cri-du-chat (cat`s cry) syndrome | Microcephaly | |
CTNS | 17 | p13.2 | Cystinosis | Photophobia - sensitivity to light | |
CTRC | 1 | p36.21 | hereditary pancreatitis | Diabetes | |
CTRCT21 | 16 | q23.2 | CATARACT 21 MULTIPLE TYPES | Autism spectrum | |
CTSA | 20 | q13.12 | Galactosialidosis | Ataxia spectrum | |
CTSB | 21 | q22.3 | Unverricht-Lundborg disease | Ataxia spectrum | |
CTSD | 11 | p15.5 | Congenital neuronal ceroid lipofuscinosis (NCL) | Microcephaly | |
CTTNBP2 | 7 | q31.31 | CORTACTIN-BINDING PROTEIN 2 | Autism spectrum | |
CUBN | 10 | p13 | Imerslund-Grasbeck syndrome | Vitamin B12 metabolism spectrum | |
CUL3 | 2 | q36.2 | Pseudohypoaldosteronism type IIE | Autism spectrum | |
CUX1 | 7 | q22.1 | CUT-LIKE HOMEOBOX 1 | Autism spectrum | |
CUX2 | 12 | q24.11-12 | CUT-LIKE HOMEOBOX 2 | Autism spectrum | |
CWF19L1 | 10 | q24.31 | Spinocerebellar ataxia autosomal recessive type 17 | Ataxia spectrum | |
CWS1 | 10 | q23.31 | COWDEN SYNDROME 1 | Autism spectrum | |
CXCR4 | 2 | q22.1 | Waldenström macroglobulinemia | Ataxia spectrum | |
CXORF36 | 23 | p11.3 | CHROMOSOME X OPEN READING FRAME 36 | Autism spectrum | |
CYB5R3 | 22 | q13.2 | Microcephaly - other | Microcephaly | |
CYP27A1 | 2 | q35 | cerebrotendinous xanthomatosis | Epilepsy and seizures | |
CYP4F22 | 19 | p13.12 | Lamellar ichthyosis | Alopecia | |
CYP4F22 | 19 | p13.12 | NBCIE Nonbullous congenital ichthyosiform erythroderma | Alopecia | |