Names of Genes by Syndrome

Syndrome Gene Chromosome Location Category
CADHERIN 8CDH816q21Autism spectrum
CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-ALPHACAMK2A5q32Autism spectrum
CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE IVCAMK45q22.1Autism spectrum
CALCIUM-DEPENDENT ACTIVATOR PROTEIN FOR SECRETION 2CADPS27q31.32Autism spectrum
CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1CAMTA11P36.23-31Autism spectrum
CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAYCAFDADD16p13.3Autism spectrum
Cardiofaciocutaneous syndromeBRAF7q34Autism spectrum
Cardiofaciocutaneous syndromeKRAS12p12.1Autism spectrum
Cardiofaciocutaneous syndromeMAP2K115q22.31Autism spectrum
Cardiofaciocutaneous syndromeMAP2K219p13.3Autism spectrum
Carnevale syndromeCOLEC112p25.3Cleft lip / cleft palate
Carnitine palmitoyltransferase I deficiencyCPT1A11q13.3Reye`s Syndrome-like diseases
Carpenter SyndromeMEGF819q12Autism spectrum
Carpenter SyndromeRAB236p11Autism spectrum
CASK-related intellectual disabilityCASK23p11.4Microcephaly
Cataract 01 multiple types (CTRCT1)GJA81q21.1Cataracts
Cataract 02 multiple types (CTRCT2)CRYGC2q33.3Cataracts
Cataract 03 multiple types (CTRCT3)CRYBB222q11.23Cataracts
Cataract 04 multiple types (CTRCT4)CRYGD2q33.3Cataracts
Cataract 06 multiple types (CTRCT6)EPHA21P36.13Cataracts
Cataract 09 multiple types (CTRCT9)CRYAA21q22.3Cataracts
Cataract 10 multiple types (CTRCT10)CRYBA117q11.2Cataracts
Cataract 11 multiple types (CTRCT11)PITX310q24.32Cataracts
Cataract 12 multiple types (CTRCT12)BFSP23q22.1Autism spectrum
Cataract 18 multiple types(CTRCT18)FYCO13p21.31Cataracts
Cataract 19 multiple types (CTRCT19)LIM219q13.41Cataracts
Cataract 20 multiple types (CTRCT20)CRYGS3q27.3Cataracts
CATARACT 21 MULTIPLE TYPESCTRCT2116q23.2Autism spectrum
Cataract 21 multiple types (CTRCT21)MAF16q23.2Cataracts
Cataract 22 multiple types (CTRCT22)CRYBB322q11.23Cataracts
Cataract 30 multiple types (CTRCT30)VIM10p13Cataracts
Cataract 31 multiple types (CTRCT31)CHMP4B20q11.22Cataracts
Cataract 33 multiple types (CTRCT33)BFSP120p12.1Cataracts
Cataract 36 (CTRCT36)TDRD79q22.33Cataracts
Cataract 39 multiple types (CTRCT39)CRYGB2q33.3Cataracts
Cataract 40 (CTRCT40)NHS23p22.2Cataracts
Cataract 43 (CTRCT43)UNC45B17q12Cataracts
Cataract 45 (CTRCT45)SIPA1L319q13.13Cataracts
Cataract 46 juvenile-onset (CTRCT46)LEMD26p21.31Cataracts
Catecholaminergic polymorphic ventricular tachycardiaCASQ21p13.1Tachycardia (>100 beats/minute)
Catecholaminergic polymorphic ventricular tachycardiaRYR21q43Tachycardia (>100 beats/minute)
CATENIN BETA-1CTNNB13p22.1Autism spectrum
CCCTC-BINDING FACTORCTCF16q22.1Autism spectrum
CDC-LIKE KINASE 2CLK21q22Autism spectrum
CDKL5 deficiency disorderCDKL523p22.13Epilepsy and seizures
CEREBELLAR ATAXIA AREFLEXIA PES CAVUS OPTIC ATROPHY AND HEARING LOSSCAPOS19q13.2Autism spectrum
Cerebellar ataxia cayman typeATCAY19p13.3Ataxia spectrum
Cerebellar ataxia mental retardation and dysequilibrium syndrome type 02WDR8117p13.3Ataxia spectrum
Cerebellar ataxia mental retardation and dysequilibrium syndrome type 03CA88q12.1Ataxia spectrum
Cerebellar ataxia mental retardation and dysequilibrium syndrome type 04ATP8A213q12.13Ataxia spectrum
CEREBELLAR ATAXIA NONPROGRESSIVE WITH MENTAL RETARDATIONCANPMR1p36.23-31Autism spectrum
Cerebral autosomal dominant arteriopathy (CADASIL)NOTCH319p13.12Epilepsy and seizures
Cerebral autosomal recessive arteriopathy (CARASIL)HTRA110q26.13Alopecia
CEREBRAL CREATINE DEFICIENCY SYNDROME 1CCDS123q28Autism spectrum
CEREBRAL CREATINE DEFICIENCY SYNDROME 2CCDS219p13.3Autism spectrum
CEREBRAL CREATINE DEFICIENCY SYNDROME 3CCDS315q21.1Autism spectrum
Cerebral folate transport deficiencyFOLR111q13.4Ataxia spectrum
Cerebral palsy - unassignedDMD23p21.1Cerebral palsy
Cerebral palsy - unassignedHSPA45q31.1Cerebral palsy
Cerebral palsy - unassignedPACRG6q26Cerebral palsy
Cerebral palsy - unassignedRAPGEF19q34.13Cerebral palsy
Cerebral palsy - unassignedWNT41p36.12Cerebral palsy
Cerebral palsy spastic quadriplegic type 1 (CPSQ1) disorderGAD12q31Cerebral palsy
Cerebral palsy spastic quadriplegic type 2 (CPSQ2) disorderKANK19p24.3Cerebral palsy
Cerebral palsy spastic quadriplegic type 3 (CPSQ3) disorderAP4M17q22.1Cerebral palsy
Cerebral palsy spastic quadriplegic type 4 (CPSQ4) disorderAP4E115q21.2Cerebral palsy
Cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorderAP4B11p13.2Cerebral palsy
Cerebral palsy spastic quadriplegic type 6 (CPSQ6) disorderAP4S114q12Cerebral palsy
Cerebro-oculo-facio-skeletal syndrome 4 (COFS4)ERCC119q13.32Arthrogryposis spectrum
cerebrotendinous xanthomatosisCYP27A12q35Epilepsy and seizures
Chanarin-Dorfman syndrome type 1ABHD53p21.33Ataxia spectrum
Chanarin-Dorfman syndrome type 2ABHD53p21.33Cataracts
CHARGE syndromeCHD78q12.2Cleft lip / cleft palate
CHARGE syndromeSEMA3E7q21.11Cleft lip / cleft palate
Chediak-Higashi syndromeLYST1q42.3Ataxia spectrum
childhood absence epilepsy 6CACNA1H16p13.3Encephalitis
Cholinergic receptor muscarinic 2CHRM27q31-q35Bradycardia (<60 beats/minute)
Chorea-acanthocytosisVPS13A9q21.2Panic phobia anxiety
Christianson syndromeSLC9A623q26.3Microcephaly
CHROMOSOME 12 OPEN READING FRAME 57C12ORF5712p13.31Autism spectrum
CHROMOSOME 3 OPEN READING FRAME 58C3ORF583q24Autism spectrum
CHROMOSOME X OPEN READING FRAME 36CXORF3623p11.3Autism spectrum
Chronic atrial dysrhythmiaSGOL13p24.3Bradycardia (<60 beats/minute)
Circadian rhythm disruptionRAI117p11.2Sleep disorders
CitrullinemiaASS19q34.11Ataxia spectrum
CitrullinemiaSLC25A137q21.3Ataxia spectrum
CLCN2-related leukoencephalopathyCLCN23q27.1Ataxia spectrum
Cleft palate cardiac defects and mental retardationCPCMR15q14Cleft lip / cleft palate
Cleft palate cardiac defects and mental retardationMEIS215q14Cleft lip / cleft palate
CLN1 diseasePPT11p34.2Epilepsy and seizures
CLN4 diseaseDNAJC520q13.33Ataxia spectrum
CLN6 diseaseCLN615q23Ataxia spectrum
CLN7 diseaseMFSD84q28.2Ataxia spectrum
Clouston syndromeGJB613q12.11Alopecia
CLPB deficiencyCLPB11q13.4Cataracts
Cockayne syndromeERCC610q11.23Microcephaly
Cockayne syndromeERCC85q12.1Microcephaly
Coffin-Lowry syndromeRPS6KA323p22.1-.2Microcephaly
Coffin-Siris syndrome 1ARID1B6q25.3Autism spectrum
Coffin-Siris syndrome 1CSS16q25.3Autism spectrum
Cohen syndromeVPS13B8q22.2Microcephaly
Color vision deficiencyOPN1LW23q28Photophobia - sensitivity to light
Color vision deficiencyOPN1MW23q28Photophobia - sensitivity to light
Color vision deficiencyOPN1SW7q32.1Photophobia - sensitivity to light
Combined malonic and methylmalonic aciduria (CMAMMA)ACSF316q24.3Microcephaly
Combined oxidative phosphorylation deficiency 27CARS213q34Epilepsy and seizures
cone-rod dystrophyABCA41p22.1Photophobia - sensitivity to light
cone-rod dystrophyCACNA1F23p11.23Photophobia - sensitivity to light
Cone-rod dystrophy 7RIMS16q13Autism spectrum
Congenital and juvenile cataractsTMEM11416p13.2Cataracts
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROMECAKUTHED1q23.3Autism spectrum
Congenital cataracts facial dysmorphism and neuropathyCTDP118q23Cataracts
Congenital contractural arachnodactylyFBN25q23-31Arthrogryposis spectrum
Congenital disorder of glycosylationCOG57q31Microcephaly
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIcCDG2C11p11.2Autism spectrum
CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIfCDG2F6q15Autism spectrum
CONGENITAL HEART DEFECTS DYSMORPHIC FACIAL FEATURESCHDFIDD7p14.1Autism spectrum
Congenital hyperinsulinismABCC811p15.1Diabetes
Congenital hyperinsulinismGCK7p13Diabetes
Congenital hyperinsulinismGLUD110q23.2Diabetes
Congenital hyperinsulinismHADH4q25Diabetes
Congenital hyperinsulinismHNF1A12q24.31Diabetes
Congenital hyperinsulinismHNF4A20q13.12Diabetes
Congenital hyperinsulinismKCNJ1111p15.1Diabetes
Congenital hyperinsulinismSLC16A11p13.2Diabetes
Congenital hyperinsulinismUCP211q13.4Diabetes
Congenital hypothyroidismDUOX215q21.1Hypothyroidism
Congenital hypothyroidismDUOXA215q21.1Hypothyroidism
Congenital hypothyroidismGLIS39p24.2Hypothyroidism
Congenital hypothyroidismIYD6q25.1Hypothyroidism
Congenital hypothyroidismNKX2-55q35.1Hypothyroidism
Congenital hypothyroidismPAX82q14.1Hypothyroidism
Congenital hypothyroidismSLC26A47q22.3Hypothyroidism
Congenital hypothyroidismSLC5A519p13.11Hypothyroidism
Congenital hypothyroidismTG8q24.22Hypothyroidism
Congenital hypothyroidismTHRA17q21.1Hypothyroidism
Congenital hypothyroidismTPO2p25.3Hypothyroidism
Congenital hypothyroidismTRHR8q23.1Hypothyroidism
Congenital hypothyroidismTSHB1p13.2Hypothyroidism
Congenital hypothyroidismTSHR14q31.1Hypothyroidism
Congenital myasthenic syndromeCHRNA12q31.1Arthrogryposis spectrum
Congenital myasthenic syndromeCHRND2q37.1Arthrogryposis spectrum
Congenital neuronal ceroid lipofuscinosis (NCL)CTSD11p15.5Microcephaly
Congenital stromal corneal dystrophyDCN12q21.33Photophobia - sensitivity to light
Corneal dystrophy Fuchs endothelial 3 (FECD3)MBNL13q25.1Cataracts
Cornelia de Lange SyndromeHDAC823q13Autism spectrum
Cornelia de Lange SyndromeNIPBL5p13.2Autism spectrum
Cornelia de Lange SyndromeRAD218q24Autism spectrum
Cornelia de Lange SyndromeSMC1A23p11.21-22Autism spectrum
Cornelia de Lange SyndromeSMC310q25Autism spectrum
CORNELIA DE LANGE SYNDROME 1CDLS15p13.2Autism spectrum
CORTACTIN-BINDING PROTEIN 2CTTNBP27q31.31Autism spectrum
Cortical dysplasia with other brain malformations 2 (CDCBM2)KIF5C2q23.1Arthrogryposis spectrum
Costeff syndromeOPA3-both19q13.32Cataracts
COSTELLO SYNDROMECSTLO11p15.5Autism spectrum
COWDEN SYNDROME 1CWS110q23.31Autism spectrum
Cowder SyndromePTEN10q23.31Autism spectrum
CRANIOSYNOSTOSIS 3CRS315q21.3Autism spectrum
CRANIOSYNOSTOSIS 6CRS63q24Autism spectrum
Cri-du-chat (cat`s cry) syndromeCTNND25p15.2Microcephaly
Crohn DiseaseADAM172p25.1Irritable Bowel Disorders
Crohn DiseaseATG16L12q37.1Irritable Bowel Disorders
Crohn DiseaseFGFR1OP6q27Irritable Bowel Disorders
Crohn DiseaseHLA-DRB16p21.32Irritable Bowel Disorders
Crohn DiseaseHP16q22.2Irritable Bowel Disorders
Crohn DiseaseIL101q32.1Irritable Bowel Disorders
Crohn DiseaseIL12B5q33.3Irritable Bowel Disorders
Crohn DiseaseIL23R1p31.3Irritable Bowel Disorders
Crohn DiseaseIRGM5q33.1Irritable Bowel Disorders
Crohn DiseaseJAK29p24.1Irritable Bowel Disorders
Crohn DiseaseLACC113q14.11Irritable Bowel Disorders
Crohn DiseaseLRRK212q12Irritable Bowel Disorders
Crohn DiseaseMUC211p15.5Irritable Bowel Disorders
Crohn DiseaseNOD216q12.1Irritable Bowel Disorders
Crohn DiseaseSLC11A12q35Irritable Bowel Disorders
Crohn DiseaseSLC22A45q31.1Irritable Bowel Disorders
Crohn DiseaseSLC22A55q31.1Irritable Bowel Disorders
Crohn DiseaseSTAT317q21.2Irritable Bowel Disorders
Crohn DiseaseTPMT6p22.3Irritable Bowel Disorders
Crohn DiseaseTYK219p13.2Irritable Bowel Disorders
Crouzon syndromeFGF105p12-13Cleft lip / cleft palate
Crouzon syndromeFGFR210q26Cleft lip / cleft palate
Crouzon syndromeFGFR34p16.3Cleft lip / cleft palate
Cryptogenic cirrhosisKRT1812q13.13Diabetes
Cryptogenic cirrhosisKRT812q13.13Diabetes
CUTIS LAXA AUTOSOMAL DOMINANT 3ADCL310q24.1Autism spectrum
Cutis laxa autosomal recessive 3A (ARCL3A)ALDH18A110q24.1Cataracts
CUT-LIKE HOMEOBOX 1CUX17q22.1Autism spectrum
CUT-LIKE HOMEOBOX 2CUX212q24.11-12Autism spectrum
CYCLIN-DEPENDENT KINASE INHIBITOR 1BCDKN1B12p13.1Autism spectrum
CystinosisCTNS17p13.2Photophobia - sensitivity to light
CYSTINURIA TYPE ASLC3A12p21Autism spectrum
CYSTINURIA TYPE ASLC7A919q13.11Autism spectrum
Cytochrome-c oxidase deficiencyCOX201q44Ataxia spectrum
CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 4CPEB45q35.2Autism spectrum


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