| 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 | |