Gene / Medication Search Tool

Gene Condition Inheritance Seizure Onset Category Treatment/Management
ABCD1Adrenoleukodystrophy, adrenomyeloneuropathyXLChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1315/
ADSLAdenylosuccinase deficiencyARInfantile/childhoodIEM
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2ADInfantileMCA
ALDH7A1Pyridoxine-dependent epilepsyARInfantileIEMhttps://onlinelibrary.wiley.com/doi/10.1002/jimd.12332 https://www.ncbi.nlm.nih.gov/books/NBK1486/
AMTGlycine encephalopathyARInfantileIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1357/ https://link.springer.com/article/10.1007%2Fs11940-017-0467-0
ANKRD11KBG syndromeADChildhoodMCA
ARG1ArgininemiaARChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1159/
ARHGEF9Early infantile epileptic encephalopathy type 8XLInfantile
ARID1BCoffin-Siris syndrome type 1ADChildhoodMCAhttps://www.ncbi.nlm.nih.gov/books/NBK541502/
ARL13BJoubert syndrome type 8ARInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1325/
ARSAMetachromatic leukodystrophyARInfantile/childhood/adultIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1130/
ARSBMucopolysaccharidosis type VI (Maroteaux-Lamy)ARChildhood/adultIEM
ASAH1Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsyARInfantileIEMhttps://www.ncbi.nlm.nih.gov/books/NBK488189/
ASPMPrimary microcephaly type 5ARInfantileBrain malformation
ATICAICA-ribosiduria due to ATIC deficiencyARInfantile/childhoodIEM
ATP1A2Alternating hemiplegia of childhood type 1, familial basilar migraine, familial hemiplegic migraine type 2ADChildhood
ATP2A2Acrokeratosis verruciformis, Darier disease ADChildhood/teenChannelopathy
ATP6AP2?Parkinsonism with spasticity, Syndromic intellectual disability (Hedera type)XLInfantileMCA
ATP6V0A2Wrinkly skin syndrome, cutis laxa type IIAAR InfantileChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK5200/
ATRXAlpha-thalassemia/intellectual disability syndrome, Intellectual disability-hypotonic facies syndromeXLChildhoodMCA
AUH3-methylglutaconic aciduria type IARChildhood/adultIEM
B4GALT1Congenital disorder of glycosylation type IIdARChildhoodIEM
BCKDKBranched-chain ketoacid dehydrogenase kinase deficiencyunkChildhoodIEMhttps://pubmed.ncbi.nlm.nih.gov/22956686/
BCS1LBjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1ARInfantileMCA
BOLA3Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaARInfantileIEM
BRAFCardiofaciocutaneous syndrome, LEOPARD syndrome type 3, Noonan syndrome type 7ADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1383/ https://www.ncbi.nlm.nih.gov/books/NBK1186/
BTDBiotinidase deficiencyARChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1322/
C12orf57Temtamy syndromeARInfantileMCA
CACNA1AEarly infantile epileptic encephalopathy type 42, episodic ataxia type 2, familial hemiplegic migraine type 1 (with progressive cerebellar ataxia), spinocerebellar ataxia type 6ADInfantileChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK1501/
CACNA1EDevelopmental and epileptic encephalopathy type 69ADInfantileChannelopathyhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110/
CACNA1HFamilial Hyperaldosteronism type IV, susceptibility to childhood absence epilepsy type 6, susceptibility to idiopathic generalized epilepsyADChildhood Channelopathy
CACNB4Susceptibility to idiopathic generalized epilepsy type 9, susceptibility to juvenile myoclonic epilepsy type 6, episodic ataxia type 5ADChildhood/teenChannelopathy
CASKIntellectual disability and microcephaly with pontine and cerebellar hypoplasia, FG syndrome type 4, intellectual disability with or without nystagmusXLChildhoodMCA
CASRNeonatal hyperparathyroidism (AD/AR), Hypocalcemia (with Bartter syndrome), Hypocalciuric hypercalcemia type I, susceptibility to idiopathic generalized epilepsy type 8ADChildhoodChannelopathyhttps://academic.oup.com/jcem/article/85/12/4583/2853448
CC2D2ACOACH syndrome, Joubert syndrome type 9, Meckel syndrome type 6ARInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1325/
CDKL5Early infantile epileptic encephalopathy type 2XLInfantile
CENPJPrimary microcephaly type 6, ?Seckel syndrome type 4ARChildhoodMCA
CEP290Joubert syndrome type 5, Leber congenital amaurosis type 10, Meckel syndrome type 4, Senior-Loken syndrome type 6, ?Bardet-Biedl syndrome type 14ARInfantileMCAhttps://pubmed.ncbi.nlm.nih.gov/20690115/ https://pubmed.ncbi.nlm.nih.gov/19764032/
CHD2Childhood-onset epileptic encephalopathyADChildhood
CHRNA2Nocturnal frontal lobe epilepsy type 4ADChildhoodChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK1169/
CHRNA4Nocturnal frontal lope epilepsy type 1ADChildhoodChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK1169/
CHRNB2Nocturnal frontal lope epilepsy type 3ADChildhoodChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK1169/
CLCN2Susceptibility to idiopathic generalized epilepsy type 11, susceptibility to juvenile absence epilepsy type 2, susceptibility to juvenile myoclonic epilepsy type 8, familial Hyperaldosteronism type II, Leukoencephalopathy with ataxia (AR)ADChildhood/teenChannelopathy
CLCN4Raynaud-Claes syndromeXLInfantileChannelopathy
CLN3Neuronal Ceroid lipofuscinosis type 3ARChildhoodIEM
CLN5Neuronal Ceroid lipofuscinosis type 5ARChildhoodIEM
CLN6Neuronal Ceroid lipofuscinosis type 6, Adult onset neuronal Ceroid lipofuscinosis Kufs typeARAdultIEM
CLN8Neuronal Ceroid lipofuscinosis type 8 (Northern epilepsy variant)ARChildhoodIEM
CNNM2Hypomagnesemia, seizures, and intellectual disability (AD/AR), renal hypomagnesemia type 6ADInfantileChannelopathy
CNTNAP2Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins like syndrome type 1ARChildhoodChannelopathy
COG8Congenital disorder of glycosylation type IIhUnkChildhoodIEM
COL4A1Hereditary Angiopathy with nephropathy, aneurysms, and muscle cramps, Brain small vessel disease with or without ocular anomalies, pontine Microangiopathy and leukoencephalopathy, susceptibility to intracerebral Hemorrhage, tortuosity of Retinal arteriesADChildhoodMCA
COQ2Primary Coenzyme Q10 deficiency type 1, susceptibility to Multiple system atrophy (AD/AR)ARInfantile/childhoodIEMhttps://n.neurology.org/content/57/3/515.long
COQ8APrimary Coenzyme Q10 deficiency type 4ARChildhoodIEMhttps://n.neurology.org/content/63/4/727.long
COX10Leigh syndrome due to mitochondrial COX4 deficiency, Mitochondrial complex IV deficiency (mitochondrial) ARInfantile/childhood/adultIEM
CPA6Familial febrile seizures type 11, familial temporal lobe epilepsy type 5 (AD/AR)ARchildhood/adult
CPT2Infantile CPT II deficiency, lethal neonatal CPT II deficiency, Stress-induced myopathic CPT II deficiency (AD/AR), susceptibility to acute infection-induced encephalopathy type 4 (AD/AR)ARInfantile/childhood/adultIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1253/
CRHNocturnal frontal lobe epilepsyADChildhoodhttps://www.ncbi.nlm.nih.gov/books/NBK1169/
CSTBProgressive myoclonic epilepsy type 1A (Unverricht and Lundborg)ARChildhoodIEM
CTSAGalactosialidosisARChildhoodIEM
CUL4BSyndromic intellectual disability, Cabezas typeXLChildhoodMCA
DCXLissencephaly, Subcortical laminal heterotopiaXLInfantileBrain malformation
DDCAromatic L-amino acid decarboxylase deficiencyARInfantileIEMhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0522-z
DEPDC5Familial focal epilepsy with variable foci type 1ADChildhood/teenhttps://www.ncbi.nlm.nih.gov/books/NBK1169/
DHFRMegaloblastic anemia due to dihydrofolate reductase deficiencyARInfantile/ChildhoodIEMhttps://www.cell.com/ajhg/fulltext/S0002-9297(11)00005-X https://www.cell.com/ajhg/fulltext/S0002-9297(11)00008-5
DLDDihydrolipoamide dehydrogenase deficiencyARChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK220444/
DOLKCongenital disorder of glycosylation type ImARInfantileIEM
DPAGT1Congenital disorder of glycosylation type Ij, Congenital Myasthenic syndrome type 13 with tubular aggregatesARInfantileIEM
DPM1Congenital disorder of glycosylation type IeARInfantileIEM
DPYDDihydropyrimidine dehydrogenase deficiency, 5-fluorouracil toxicityARChildhoodIEMhttps://pubmed.ncbi.nlm.nih.gov/28929491/ https://pubmed.ncbi.nlm.nih.gov/28395758/
DYNC1H1Lower extremity-predominant spinal musuclar atrophy type 1, Charcot-Marie-Tooth disease axonal type 20, Intellectual disability type 13ADChildhood MCA
DYRK1AIntellectual disability type 7ADInfantileMCA
EEF1A2Early infantile Epileptic encephalopathy type 33, Intellectual disability type 38ADInfantile
EHMT1Kleefstra syndrome type 1ADChildhoodMCAhttps://www.ncbi.nlm.nih.gov/books/NBK47079/
EIF2B1Leukoencephalopathy with vanishing white matterARInfantile/adultBrain malformation
EIF2B2Leukoencephalopathy with vanishing white matter, OvarioleukodystrophyARInfantile/adultBrain malformation
EIF2B3Leukoencephalopathy with vanishing white matterARinfantile/adultBrain malformation
EIF2B4Leukoencephalopathy with vanishing white matter, OvarioleukodystrophyARinfantile/adultBrain malformation
EIF2B5Leukoencephalopathy with vanishing white matter, OvarioleukodystrophyARInfantile/adultBrain malformation
EMX2Schizencephaly UnkInfantileBrain malformation
EPM2AProgressive myoclonic 2A (Lafora) epilepsyARChildhoodIEM
FHFumarase deficiency, Leiomyomatosis and renal cell cancerAR/ADInfantile/adultIEM
FLNACardiac valvular dysplasia, Congenital short bowel syndrome, Frontometaphyseal dysplasia type 1, Periventricular Heterotopia type 1, Neuronal Intestinal pseudoobstruction, Melnick-Needles syndrome, Otopalatodigital syndrome type I, Otopalatodigital syndrome type II, Terminal osseous dysplasia, ?FG syndrome type 2XLInfantileMCA
FOLR1Neurodegeneration due to cerebral folate transport deficiencyARInfantileIEMhttps://pubmed.ncbi.nlm.nih.gov/19732866/
FOXG1FOXG-1 related syndrome/congenital Rett syndromeADInfantile/childhoodBrain malformation
GABBR2Developmental and epileptic encaphalopathy type 59ADInfantileChannelopathyhttps://www.pedneur.com/article/S0887-8994(19)30245-0/fulltext
GABRA1Early infantile Epileptic encephalopathy type 19, Susceptibility to child absence epilepsy type 4, Susceptibility to juvenile myoclonic epilepsy type 5ADInfantileChannelopathyhttps://pubmed.ncbi.nlm.nih.gov/23038269/
GABRB3Early infantile epileptic encephalopathy type 43, Susceptibility to childhood absence epilepsy type 5ADInfantileChannelopathyhttps://pubmed.ncbi.nlm.nih.gov/23038269/
GABRDIdiopathic generalized epilepsy type 10, susceptibility to juvenile myoclonic epilepsy, susceptibility to generalized epilepsy with febrile seizures plus type 5ADChildhoodChannelopathy
GABRG2Generalized epilepsy with febrile seizures plus type 3, Early infantile epileptic encephalopathy type 74, Familial febrile seizures type 8ADInfantileChannelopathy
GALCKrabbe diseaseARInfantile/ChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1238/
GAMTCerebral creatine deficiency syndrome type 2ARChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK3794/
GATMCerebral creatine deficiency syndrome type 3ARChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK3794/
GCH1BH4-deficient hyperphenylalaninemiaARInfantileIEMhttps://link.springer.com/article/10.1007%2Fs11940-017-0467-0
GCSH?Glycine encephalopathyARInfantileIEMhttps://pubmed.ncbi.nlm.nih.gov/26109259/
GFAPAlexander diseaseADInfantile/childhood/adultBrain malformation
GLB1GM1-gangliosidosis type I, II, III, Mucopolysaccharidosis type IVB (Morquio)ARInfantile/childhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK164500/
GLDCGlycine encephalopathyARInfantileIEMhttps://onlinelibrary.wiley.com/doi/abs/10.1002/ana.20759
GLI3Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly types A1, B, preaxial polydactyly type IVADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1446/
GLRA1Hyperekplexia type 1AD/AR https://www.jns-journal.com/article/S0022-510X(20)30388-9/fulltext
GLRBHyperekplexia type 2AR https://www.jns-journal.com/article/S0022-510X(20)30388-9/fulltext
GLUD1Hyperinsulinism-hyperammonemia syndromeADChildhoodIEM
GNAO1Early infantile epileptic encephalopathy type 17, Neurodevelopmental disorder with involuntary movementsADInfantile
GNESialuria, Nonaka myopathyAD/ARChildhood/adultIEM
GNSMucopolysaccharidosis type IIIDARChildhoodIEM
GOSR2Progressive myoclonic epilepsy type 6ARChildhood
GRIA3Intellectual disability type 94XLChildhood
GRIN1Neurodevelopmental disorder with or without hyperkinetic movements and seizure AD/ARChildhoodChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK542807/
GRIN2AFocal epilepsy with speech disorder with or without intellectual disabilityADChildhoodChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK385627/
GRIN2BEarly infantile epileptic encephalopathy type 27, intellectual disability type 6ADInfantilechannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK501979/
HECW2Neurodevelopmental disorder with hypotonia, seizures, and absent languageADChildhoodMCA
HEXATay-Sachs disease, GM2-gangliosidosis, Hex A pseudodeficiencyARInfantileIEM
HEXBSandhoff disease, infantile, juvenile, and adult formsARInfantile/childhoodIEM
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C), Retinitis pigmentosa type 73ARChildhoodIEM
HSD17B10HSD10 mitochondrial diseaseXLInfantile/childhoodIEM
IDSMucopolysaccharidosis IIXLChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1274/
IQSEC2Intellectual disability type 1 or 78XLChildhood
KANSL1Koolen-De Vries syndromeADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK24676/
KCNA1Episodic ataxia/myokymia syndromeADChildhoodChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK25442/
KCNA2Developmental and epileptic encephalopathy type 32ADInfantilehttps://link.springer.com/article/10.1007%2Fs13311-020-00835-4
KCNB1Early infantile epileptic encephalopathy type 26ADInfantileChannelopathy
KCNC1Progressive myoclonic epilepsy type 7ADChildhood/teenChannelopathy
KCNMA1Liang-Wang syndrome, Paroxysmal nonkinesigenic dyskinesia type 3 with or without generalized epilepsy, susceptibility to generalized idiopathic epilepsy type 16, Cerebellar atrophy, developmental delay, and seizures (AR)ADInfantileChannelopathy
KCNQ2Early infantile epileptic encephalopathy type 7, benign neonatal seizures type 1, myokymiaADInfantileChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK32534/
KCNQ3Benign neonatal seizures type 2ADInfantileChannelopathyhttps://onlinelibrary.wiley.com/doi/full/10.1111/epi.13596
KCNT1Nocturnal frontal lobe epilepsy type 5, Early infantile epileptic encephalopathy type 14AD InfantileChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK1169/
KDM5CSyndromic intellectual disability, Claes-Jensen typeXLChildhoodMCA
KDM6AKabuki syndrome type 2XLInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK62111/
KMT2DKabuki syndrome type 1ADChildhoodMCAhttps://www.ncbi.nlm.nih.gov/books/NBK62111/
L2HGDHL-2-hydroxyglutaric aciduriaARChildhoodIEM
LAMA2Congenital merosin deficient or partially deficient muscular dystrophy, limb-girdle muscular dystrophy type 23ARChildhood
LGI1Familial temporal lobe epilepsy type 1ADChildhood/teen
LRPPRCFrench-Canadian type Leigh syndromeARInfantileBrain malformation
MAP2K1Cardiofaciocutaneous syndrome 3ADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1186/
MBD5Intellectual disability type 1ADChildhood
MECP2Rett syndromeXLChildhoodhttps://www.ncbi.nlm.nih.gov/books/NBK1497/
MEF2CIntellectual disability, stereotypic movements, epilepsy, and/or cerebral malformationsADChildhoodMCA
MFSD8Neuronal Ceroid lipofuscinosis type 7, Macular dystrophy with central cone involvementARChildhoodBrain malformationhttps://www.nejm.org/doi/10.1056/NEJMoa1813279?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dpubmed
MGAT2Congenital disorder of glycosylation type IIaARChildhoodIEM
MLC1Megalencephalic leukoencephalopathy with subcortical cystsAR ChildhoodChannelopathy
MOCS1Molybdenum cofactor deficiency type AARInfantilehttps://www.sciencedirect.com/science/article/abs/pii/S1096719215300809?via%3Dihub https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565584/
MTORSmith-Kingsmore syndromeADInfantileMCA
NAGLUMucopolysaccharidosis type IIIB (Sanfilippo B), ?Axonal Charcot-Marie-Tooth disease type 2V (AD)ARChildhoodIEM
NDUFA1Mitochondrial complex I deficiency nuclear type 12XLChildhoodBrain malformation
NDUFA2?Mitochondrial complex I deficiency nuclear type 13ARInfantile
NDUFS1Mitochondrial complex I deficiency nuclear type 5ARChildhoodBrain malformation
NDUFS3Mitochondrial complex I deficiency nuclear type 8ARChildhoodBrain malformation
NDUFS4Mitochondrial complex I deficiency nuclear type 1ARChlidhoodBrain malformation
NDUFS7Mitochondrial complex I deficiency nuclear type 3ARChildhoodBrain malformation
NDUFS8Mitochondrial complex I deficiency nuclear type 2ARChildhoodBrain malformation
NDUFV1Mitochondrial complex I deficiency nuclear type 4ARChildhoodBrain malformation
NEDD4LPeriventricular nodular heterotopia 7ADInfantileMCA
NEU1Sialidosis type I and IIARChildhood/adultIEM
NEXMIFIntellectual disability type 98XLChildhoodMCA
NF1Neurofibromatosis type 1, Familial spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndromeADChildhoodMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1109/
NGLY1Congenital disorder of deglycosylationARChildhoodIEM
NHLRC1Progressive myoclonic epilepsy type 2B (Lafora)ARChildhood
NIPBLCornelia de Lange syndrome type 1ADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1104/
NPC1Niemann-Pick disease type C1 and DARChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1296/
NPC2Niemann-Pick disease type C2ARInfantile/childhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1296/
NRXN1Pitt-Hopkins-like syndrome type 2ARInfantile
NSD1Sotos syndrome type 1ADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1479/
OFD1Joubert syndrome type 10, Simpson-Golabi-Behmel syndrome type 2, Orofaciodigital syndrome type I, ?Retinitis pigmentosa type 23XLInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1325/ https://www.ncbi.nlm.nih.gov/books/NBK1188/
PANK2Neurodegeneration with brain iron accumulation type 1, HARP syndromeARChildhood/adultIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1490/
PCDH19Early infantile Epileptic encephalopathy type 9XLInfantile
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyXLInfantileIEMhttps://www.nature.com/articles/pr2003303
PHGDHPhosphoglycerate dehydrogenase deficiencyARInfantile/childhood https://www.sciencedirect.com/science/article/abs/pii/S1096719216300531?via%3Dihub https://journals.sagepub.com/doi/10.1177/0883073817690094?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
PHF6Borjeson-Forssman-Lehmann syndromeXLChildhoodMCA
PLA2G6Neurodegeneration with brain iron accumulation type 2B, Infantile neuroaxonal dystrophy type 1, Parkinson disease type 14ARChildhood/adultIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1675/
PLP1Pelizaeus-Merzbacher disease, Spastic paraplegia 2XLInfantilehttps://www.ncbi.nlm.nih.gov/books/NBK1182/
PMM2Congenital disorder of glycosylation type IaARChildhoodIEM
PNPOPyridoxamine 5'-phosphate oxidase deficiencyARInfantileIEMhttps://link.springer.com/article/10.1007%2Fs13311-020-00835-4 https://link.springer.com/article/10.1007%2Fs11940-017-0467-0
POLGMitochondrial DNA depletion syndrome 4A (Alpers type), Mitochondrial DNA depletion syndrome 4B (MNGIE type), Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Progressive external ophthalmoplegia type 1 (AD/AR)ARInfantile/childhoodhttps://www.ncbi.nlm.nih.gov/books/NBK26471/
PPP3CAArthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Infantile or early childhood epileptic encephalopathy type 1ADInfantileMCA
PPT1Neuronal Ceroid lipofuscinosis type 1ARInfantile/childhoodIEM
PRICKLE1Progressive myoclonic epilepsy type 1BARChildhood
PRODHHyperprolinemia type IARChildhoodIEM
PRRT2Episodic kinesigenic dyskinesia type 1, benign familial infantile seizures 2ADInfantile https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283411/
PSAPCombined SAP deficiency, Atypical Krabbe disease, Metachromatic leukodystrophy due to SAP-b deficiencyARInfantileIEM
PSPHPhosphoserine phosphatase deficiencyARInfantile/childhoodIEMhttps://www.sciencedirect.com/science/article/abs/pii/S1096719216300531?via%3Dihub https://journals.sagepub.com/doi/10.1177/0883073817690094?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
PURAIntellectual disability type 31ADChildhoodMCA
QDPRBH4-deficient hyperphenylalaninemiaARInfantileIEMhttps://pubmed.ncbi.nlm.nih.gov/19234759/
RAB39BWaisman syndrome, Intellectual disability type 72XLChildhood
RAI1Smith-Magenis syndromeADChildhoodMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1310/
RARS2Pontocerebellar hypoplasia type 6ARInfantileBrain malformation
RBFOX1Epilepsy, ASD, DD, hypotoniaADChildhood
RBFOX3Rolandic epilepsyADChildhood
RELNLissencephaly type 2 (Norman-Roberts type), Familial temporal lobe epilepsy type 7 (AD)ARInfantile/childhoodMCA
RFT1Congenital disorder of glycosylation type InARInfantile/childhoodIEM
RNASEH2AAicardi-Goutieres syndrome type 4ARInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1475/
RNASEH2BAicardi-Goutieres syndrome type 2ARInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1475/
RNASEH2CAicardi-Goutieres syndrome type 3ARInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1475/
ROGDIKohlschutter-Tonz syndromeARInfantileMCA
SAMHD1Aicardi-Goutieres syndrome 5ARInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1475/
SCN10AFamilial Episodic pain syndrome type 2ADAdultChannelopathy
SCN1AEarly infantile epileptic encephalopathy type 6 (Dravet syndrome), Generalized epilepsy with febrile seizures plus type 2, Familial febrile seizures type 3A, Familial hemiplegic migraine type 3ADInfantileChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK1318/
SCN1BFamilial atrial fibrillation type 13, Generalized epilepsy with febrile seizures plus type 1, Early infantile epileptic encephalopathy type 52 (AR)ADChildhoodChannelopathy
SCN2AEarly infantile epeileptic encephalopathy type 11, benign infantile familial seizures type 3ADInfantileChannelopathy
SCN3AFamilial focal epilepsy with variable foci type 4, Early infantile epileptic encephalopathy type 62ADInfantileChannelopathy
SCN4AHyperkalemic periodic paralysis type 2, Hypokalemic periodic paralysis type 2, atypical acetazolamide-responsive Myotonia congenita, Paramyotonia congenita, congenital Myasthenic syndrome type 16 (AR)AD ChildhoodChannelopathyhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731685/
SCN5AFamilial atrial fibrillation type 10, Brugada syndrome type 1, Dilated Cardiomyopathy type 1E, Nonprogressive heart block, Progessive heart block type IA, Long QT syndrome 3, Sick sinus syndrome type 1 (AR)ADChildhood/adultChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK1517/
SCN8ADevelopmental and epileptic encephalopathy type 13, benign familial infantile seizures type 5ADInfantileIEMhttps://link.springer.com/article/10.1007%2Fs13311-020-00835-4 https://linkinghub.elsevier.com/retrieve/pii/S1090-3798(19)30429-5 https://onlinelibrary.wiley.com/doi/full/10.1111/epi.16319
SCN9AGeneralized epilepsy with febrile seizures plus type 7, primary Erythermalgia, Familial febrile seizures type 3B, Paroxysmal extreme pain disorder, Small fiber neuropathy, HSAN2D (AR), Congenital insensitivity to pain (AR)ADChildhoodChannelopathyhttps://www.ncbi.nlm.nih.gov/books/NBK1163/
SDHAParaganglioma type 5, Leigh syndrome (AR), Mitochondrial respiratory chain complex II deficiency (AR)ADInfantileBrain malformation https://www.ncbi.nlm.nih.gov/books/NBK1548/ https://pubmed.ncbi.nlm.nih.gov/22972948/
SERPINI1Familial Encephalopathy with neuroserpin inclusion bodiesADAdultBrain malformation
SETBP1Schinzel-Giedion midface retraction syndrome, Intellectual disability type 29ADInfantileMCA
SHANK3Phelan-McDermind syndromeADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1198/
SLC17A5Salla disease, Infantile Sialic acid storage disorderARInfantile/adultIEM
SLC19A3Thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive encephalopathy type 2)ARChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK169615/
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeARChildhoodIEMhttps://pubmed.ncbi.nlm.nih.gov/25874378/
SLC2A1Infantile onset GLUT1 deficiency syndrome type 1 (AD/AR), Childhood onset GLUT1 deficiency type 2, Dystonia type 9, Stomatin-deficient cryohydrocytosis with neurologic defects, Susceptibility to generalized iopathic epilepsy type 12ADInfantile/childhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1430/
SLC46A1Hereditary folate metabolism ARChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK1673/
SLC4A10Partial complex epilepsy and intellectual disabilityADChildhoodChannelopathy
SLC6A1Myoclonic-atonic epilepsyADChildhood
SLC6A5Hyperekplexia type 3AD/AR https://www.jns-journal.com/article/S0022-510X(20)30388-9/fulltext
SLC6A8Cerebral creatine deficiency syndrome type 1XLChildhoodIEMhttps://www.ncbi.nlm.nih.gov/books/NBK3794/
SLC9A6Intellectual disability Christianson typeXLChildhoodChannelopathy
SMARCA2Nicolaides-Baraitser syndromeADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK321516/
SMC1ACornelia de Lange syndrome 2XLInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1104/
SMC3Cornelia de Lange syndrome type 3ADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1104/
SMSSnyder-Robinson type intellectual disabilityXLChildhoodIEM
ST3GAL5Salt and pepper developmental regression syndromeARInfantile
STX1BGeneralized epilepsy with febrile seizures plus type 9ADChildhoodhttps://pubmed.ncbi.nlm.nih.gov/30737342/
STXBP1Early infantile epileptic encephalopathy type 4ADInfantilehttps://www.ncbi.nlm.nih.gov/books/NBK396561/
SYN1Epilepsy with variable learning disabilities and behavior disordersXLChildhood
SYNGAP1Intellectual disability type 5ADChildhood
SZT2Early infantile Epileptic encephalopathy type 18ARInfantileMCA
TBL1XR1Pierpont syndrome, Intellectual disability type 41ADChildhoodMCA
TBX1Velocardiofacial syndrome, DiGeorge syndrome, Tetralogy of Fallot, Conotruncal anomaly face syndromeADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1523/
TCF4Pitt-Hopkins syndrome, Fuchs endothelial Corneal dystrophy type 3 ADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK100240/
TPK1Thiamine metabolism dysfunction syndrome type 5ARChildhoodIEMhttps://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0040-1715631 https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12125
TPP1Neuronal Ceroid lipofuscinosis type 2, Spinocerebellar ataxia type 7ARChildhoodIEM
TREX1Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Susceptibility to Systemic lupus erythematosus, Aicardi-Goutieres syndrome 1 (AD/AR)ADInfantileBrain malformation https://www.ncbi.nlm.nih.gov/books/NBK1475/
TSC1Tuberous sclerosis type 1ADChildhoodMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1220/
TSC2Tuberous sclerosis type 2ADChildhoodMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1220/
TUBA1ALissencephaly type 3ADChilhoodBrain malformation
TUBB2BComplex Cortical dysplasia with other brain malformations type 7ADInfantileBrain malformation
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions type 3, Perrault syndrome type 5 (AR), Mitochondrial DNA depletion syndrome type 7 (hepatocerebral type; AR)ADChildhood/teenMCA
UBE2ANascimento-type intellectual disability XLInfantileMCA
UBE3AAngelman syndromeADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1144/
UNC80Infantile hypotonia with psychomotor delay and characteristic facies type 2ARInfantileMCA
VPS13AChoreoacanthocytosisARAdultBrain malformation https://www.ncbi.nlm.nih.gov/books/NBK1387/
WDR45Neurodegeneration with brain iron accumulation 5XLChildhoodBrain malformation https://www.ncbi.nlm.nih.gov/books/NBK424403/
ZEB2Mowat-Wilson syndromeADInfantileMCAhttps://www.ncbi.nlm.nih.gov/books/NBK1412/
Medication Drug Category Used to treat Gene(s) Report type*
CimetidineAntihistamine/AntacidAcid Reflux, Stomach UlcersCYP3AModerate Inhibitor
AmphetaminePsychostimulantADHDCYP2D6Genotype Impact
AtomoxetineADHD MedicationADHDCYP2D6Genotype Impact
Dexamphetamine / DextroamphetaminePsychostimulantADHDCYP2D6Genotype Impact
LisdexamfetaminePsychostimulantADHDCYP2D6Genotype Impact
ChlorpheniramineAntihistamineAllergiesCYP2D6Genotype Impact
DexchlorpheniramineAntihistamineAllergiesCYP2D6Genotype Impact
PromethazineAntihistamineAllergiesCYP2D6Genotype Impact
MontelukastAnti-InflammatoryAllergies, Asthma AttacksCYP1A2Inducer
PerhexilineAntianginalsAngina (From Ischaemic Heart Disease)CYP2D6Genotype Impact, Strong Inhibitor
EthinylestradiolOral ContraceptiveBirth Control, Menopausal Symptoms, Gynecological DisordersCYP1A2Moderate Inhibitor
Acenocoumarol Anticoagulant (Blood Thinner)Blood ClotsVKORC1, CYP2C9Genotype Impact
WarfarinAnticoagulant (Blood Thinner)Blood ClotsVKORC1, CYP2C9Genotype Impact
TamoxifenEstrogen ModulatorBreast CancerCYP2D6Genotype Impact
TetrabenazineInvoluntary Movement ReducerChorea (Caused By Huntington Disease)CYP2D6Genotype Impact
DeutetrabenazineNeurological DrugsChorea (Caused By Huntington Disease), Tardive DyskinesiaCYP2D6Genotype Impact
DextromethorphanAntitussive Cough SuppressantCYP2D6Genotype Impact
AgomelatineAntidepressantDepression CYP1A2Genotype Impact
AmitriptylineAntidepressant - TricyclicDepression, Nerve Pain, MigraineCYP2D6, CYP2C19Genotype Impact
AmoxapineAntidepressant - TricyclicDepression CYP2D6Genotype Impact
CitalopramAntidepressant - SsriDepression, OCD, panic disorder, social phobiaCYP2C19Genotype Impact
ClomipramineAntidepressant - TricyclicDepression, OCD, panic disorder, chronic pain, nerve painCYP2D6, CYP2C19Genotype Impact
Desipramine Antidepressant - TricyclicDepression, Nerve Pain CYP2D6Genotype Impact
Dothiepin / DosulepinAntidepressant - TricyclicDepression CYP2D6, CYP2C19Genotype Impact
DoxepinAntidepressant - TricyclicDepression, Nerve Pain CYP2D6, CYP2C19Genotype Impact
DuloxetineAntidepressant - SnriDepression, Anxiety, Diabetic Peripheral Neuropathy, Fibromyalgia, Chronic Muscle/Bone Pain CYP2D6, CYP1A2Genotype Impact
EscitalopramAntidepressant - SsriDepression, Generalized Anxiety DisorderCYP2C19Genotype Impact
FluoxetineAntidepressant - SsriDepression, OCD, bulimia nervosa, panic disorderCYP2D6, CYP2C9 / CYP2C19 / CYP2D6Genotype Impact / Moderate Inhibitor / Strong Inhibitor
FluvoxamineAntidepressant - SsriDepression, OCDCYP2D6, CYP1A2 / CYP1A2, CYP2C19 / CYP3AGenotype Impact / Strong Inhibitor / Moderate Inhibitor
ImipramineAntidepressant - TricyclicDepression, Nerve Pain, Anxiety, Panic DisorderCYP2D6, CYP2C19Genotype Impact
MianserinAntidepressantDepression CYP2D6Genotype Impact
MirtazapineAntidepressantDepression CYP2D6, CYP1A2Genotype Impact
MoclobemideAntidepressantDepression, Social AnxietyCYP2C19 / CYP2D6Genotype Impact, Moderate Inhibitor / Moderate Inhibitor
NortriptylineAntidepressant - TricyclicDepression, Nerve Pain, Anxiety CYP2D6Genotype Impact
ParoxetineAntidepressant - SsriDepression, anxiety, OCD, premenstrual dysmorphic disorderCYP2D6Genotype Impact, Strong Inhibitor
ProtriptylineAntidepressant - TricyclicDepression, Nerve Pain, MigraineCYP2D6Genotype Impact
TrimipramineAntidepressant - TricyclicDepression, Nerve Pain, Myelodysplastic SyndromeCYP2D6, CYP2C19Genotype Impact
VenlafaxineAntidepressant - SnriDepression, Nerve Pain, Generalized Anxiety Disorder, Panic Disorder, And Social AnxietyCYP2D6Genotype Impact
VortioxetineAntidepressantDepression CYP2D6Genotype Impact
DuloxetineAntidepressant/Nerve Pain MedicationDepression, Anxiety, Diabetic Peripheral Neuropathy, Fibromyalgia, Chronic Muscle/Bone PainCYP2D6Moderate Inhibitor
DoxepinAntidepressant/Nerve Pain MedicationDepression, Anxiety, Sleep DisordersCYP2D6Moderate Inhibitor
SertralineAntidepressant - SsriDepression, OCD, PTSD, anxiety, panic disorderCYP2C19Genotype Impact
BrexpiprazoleAntipsychoticDepression, SchizophreniaCYP2D6Genotype Impact
QuetiapineAntipsychoticDepression, Schizophrenia, Bipolar DisorderCYP3A4Genotype Impact
BupropionAntidepressantDepression, Smoking CessationCYP2D6Strong Inhibitor
ClarithromycinAntibioticDuodenal Ulcers (Caused By H. Pylori), Prevent InfectionsCYP3AStrong Inhibitor
TamsulosinUrinary RetentionEnlarged ProstateCYP2D6Genotype Impact
ArmodafinilStimulantExcessive SleepinessCYP3AInducer
ModafinilStimulantExcessive SleepinessCYP3AInducer
FluconazoleAntifungalFungal InfectionsCYP2C9 / CYP2C19 / CYP3AModerate Inhibitor / Strong Inhibitor / Moderate Inhibitor
ItraconazoleAntifungalFungal InfectionsCYP3AStrong Inhibitor
MiconazoleAntifungalFungal InfectionsCYP2C9Moderate Inhibitor
PosaconazoleAntifungalFungal InfectionsCYP3AStrong Inhibitor
TerbinafineAntifungalsFungal InfectionsCYP2D6Moderate Inhibitor
VoriconazoleAntifungals- AzolesFungal InfectionsCYP2C19 / CYP3AGenotype Impact, Moderate Inhibitor / Strong Inhibitor
EliglustatGaucher Disease TreatmentGaucher Disease (Genetic Condition)CYP2D6Genotype Impact
MetoclopramideAntiemeticGERD, gastroparesis in diabetesCYP2D6Genotype Impact
Dexlansoprazole Proton Pump InhibitorHeartburn, Gerd, Esophageal DamageCYP2C19Genotype Impact
EsomeprazoleProton Pump InhibitorHeartburn, Gerd, Esophageal DamageCYP2C19Genotype Impact, Moderate Inhibitor
LansoprazoleProton Pump InhibitorHeartburn, Gerd, Esophageal DamageCYP2C19Genotype Impact
OmeprazoleProton Pump InhibitorHeartburn, Gerd, Esophageal DamageCYP2C19 / CYP1A2Genotype Impact, Moderate Inhibitor / Inducer
PantoprazoleProton Pump InhibitorHeartburn, Gerd, Esophageal DamageCYP2C19Genotype Impact
RabeprazoleProton Pump InhibitorHeartburn, Gerd, Esophageal DamageCYP2C19Genotype Impact
AsunepravirExperimentalHepatitis CCYP2D6Moderate Inhibitor
BocepravirProtease InhibitorHepatitis CCYP3AStrong Inhibitor
IrbesartanAngiotensin Receptor BlockerHigh Blood PressureCYP2C9Genotype Impact
LosartanAngiotensin Receptor BlockerHigh Blood PressureCYP2C9Genotype Impact
DiltiazemAntihypertensive/Calcium BlockerHigh Blood Pressure, AnginaCYP3AModerate Inhibitor
VerapamilAntihypertensive/Calcium BlockerHigh Blood Pressure, Angina, ArrhythmiaCYP3AModerate Inhibitor
CarvedilolBeta BlockerHigh Blood Pressure, Heart FailureCYP2D6Genotype Impact
MetoprololBeta BlockerHigh Blood Pressure, Heart FailureCYP2D6Genotype Impact
NebivololBeta BlockerHigh Blood Pressure, Heart FailureCYP2D6Genotype Impact
PropranololBeta BlockerHigh Blood Pressure, Heart FailureCYP2D6, CYP1A2Genotype Impact
TimololBeta BlockerHigh Blood Pressure, Migraine, Glaucoma/Ocular HypertensionCYP2D6Genotype Impact
LesinuradUrate Transporter InhibitorHigh Blood Uric AcidCYP2C9Genotype Impact
AtorvastatinStatinHigh CholesterolSLCO1B1, CYP3A4Genotype Impact
FluvastatinStatinHigh CholesterolSLCO1B1, CYP2C9Genotype Impact
PravastatinStatinHigh CholesterolSLCO1B1 Genotype Impact
RosuvastatinStatinHigh CholesterolSLCO1B1 Genotype Impact
SimvastatinStatinHigh CholesterolSLCO1B1, CYP3A4Genotype Impact
AtazanavirAntiviralHIVCYP3A5 / CYP3AGenotype Impact / Moderate Inhibitor
CobicistatAntiviralHIVCYP3AStrong Inhibitor
Darunavir/RitonavirAntiviralHIVCYP3AStrong Inhibitor
EfavirenzAntiviralHIVCYP2B6 / CYP2C19, CYP3A, CYP2B6Genotype Impact / Inducer
EtravirineAntiviralHIVCYP3AInducer
FosamprenavirAntiviralHIVCYP3AModerate Inhibitor
IndinavirAntiviralHIVCYP3AStrong Inhibitor
Lopinavir/Ritonavir AntiviralHIVCYP2C19 / CYP3AInducer / Strong Inhibitor
NevirapineAntiviralHIVCYP2B6 / CYP3AGenotype Impact / Inducer
RitonavirAntiviralHIVCYP2B6 / CYP2D6 / CYP3AInducer / Moderate Inhibitor / Strong Inhibitor
SaquinavirAntiviralHIVCYP3AStrong Inhibitor
TipranavirAntiviralHIVCYP2D6Moderate Inhibitor
Tipranavir / RitonavirAntiviralHIVCYP3A / CYP2C19Strong Inhibitor / Inducer
CinacalcetCalcium ReducerHypercalcemiaCYP2D6Moderate Inhibitor
ConivaptanAquareticHyponatremiaCYP3AStrong Inhibitor
CiprofloxacinAntibioticInfectionsCYP1A2 / CYP3AStrong Inhibitor / Moderate Inhibitor
ErythromycinAntibiotics/Gut Motility StimulatorInfectionsCYP3AModerate Inhibitor
DexamethasoneCorticosteroidInflammationCYP3AInducer
MelatoninHypnoticsInsomniaCYP1A2Genotype Impact
AmiodaroneAntiarrhythmicsIrregular HeartbeatCYP2C9Moderate Inhibitor
FlecainideAntiarrhythmicsIrregular HeartbeatCYP2D6Genotype Impact, Moderate Inhibitor
Propafenone AntiarrhythmicsIrregular HeartbeatCYP2D6Genotype Impact
RisperidoneAntipsychoticIrritability Associated With Autism; Schizophrenia, Bipolar DisorderCYP2D6Genotype Impact
AripiprazoleAntipsychoticIrritability Associated With Autism; Schizophrenia, Bipolar Disorder, Depression, Symptoms Of Tourette SyndromeCYP2D6Genotype Impact
ImatinibChemotherapyLeukema And Other CancersCYP3AModerate Inhibitor
CyclophosphamideImmunosuppressant/ChemotherapyLeukemia, Lymphomas, Nephrotic SyndromeCYP2C19Genotype Impact
ProguanilAntimalarialMalariaCYP2C19Genotype Impact
QuinineAntimalarialMalariaCYP2D6Moderate Inhibitor
VemuranfenibChemotherapyMelanoma CYP1A2Moderate Inhibitor
DabrafenibChemotherapyMelanoma, Braf-Mutated CancersCYP3AInducer
OlanzapineAntipsychoticMental Disorders, Schizophrenia, And Bipolar DisorderCYP1A2Genotype Impact
HaloperidolAntipsychoticMental Disorders, Symptoms Of Tourette SyndromeCYP2D6Genotype Impact
ChlorpromazineAntipsychoticMental Illness, Behavioral Disorders, Nausea/VomitingCYP2D6Genotype Impact
CarisoprodolNeurological DrugsMuscle RelaxantCYP2C19Genotype Impact
AprepitantAntinausea/AntiemeticNausea, VomitingCYP3AModerate Inhibitor
OndansetronAntiemeticNausea, VomitingCYP2D6Genotype Impact
TropisetronAntiemeticNausea, VomitingCYP2D6Genotype Impact
DronabinolAntiemetic/OrexigenicNausea, Vomiting / Loss Of Appetite, Weight LossCYP2C9Genotype Impact
CrizotinibChemotherapyNon-Small Cell Lung CancerCYP3AModerate Inhibitor
DarifenacinAnticholinergics/GuOveractive BladderCYP2D6Genotype Impact
DonepezilAnticholinesterasesOveractive BladderCYP2D6Genotype Impact
Fesoterodine Anticholinergics/GuOveractive BladderCYP2D6Genotype Impact
GalantamineAnticholinesterasesOveractive BladderCYP2D6Genotype Impact
MirabegronOveractive BladderOveractive BladderCYP2D6Genotype Impact, Moderate Inhibitor
TolterodineAnticholinergics/GuOveractive BladderCYP2D6Genotype Impact
CelecoxibNsaidsPainCYP2C9Genotype Impact
DiclofenacNsaidsPainCYP2C9Genotype Impact
Flurbiprofen NsaidsPainCYP2C9Genotype Impact
Hydrocodone Opioid AnalgesicPainCYP2D6Genotype Impact
IbuprofenNsaidsPainCYP2C9Genotype Impact
IndomethacinNsaidsPainCYP2C9Genotype Impact
Mefenamic AcidNsaidsPainCYP2C9Genotype Impact
MeloxicamNsaidsPainCYP2C9Genotype Impact
MethadoneOpoid AnalgesicsPainCYP2B6Genotype Impact
MorphineOpoid AnalgesicsPainOPRM1, COMTGenotype Impact
OxycodoneOpioid AnalgesicPainCYP2D6Genotype Impact
PiroxicamNsaidsPainCYP2C9Genotype Impact
TramadolOpioid AnalgesicPainCYP2D6Genotype Impact
CodeineNarcoticPain, CoughCYP2D6, OPRM1Genotype Impact
TacrolimusImmunosuppressive Prevent Organ Rejection Post-TransplantCYP3A5Genotype Impact
CyclosporinImmunosupressivePrevent Organ Rejection Post-Transplant, Rheumatoid Arthritis, Psoriasis, Chronic Dry EyeCYP3AModerate Inhibitor
ClopidogrelAntiplatelet Drug (Blood Thinner)Prevention Of Stroke, Heart AttackCYP2C19Genotype Impact
TiclopidineAntiplatelet Drug (Blood Thinner)Prevention Of Stroke, Heart AttackCYP2C19Strong Inhibitor
AbirateroneChemotherapyProstate CancerCYP2D6Moderate Inhibitor
EnzalutamideNonsteroidal AntiandrogenProstate CancerCYP2C9, CYP2C19, CYP3A Inducer
BosentanDual Endothelin Receptor AntagonistPulmonary Artery HypertensionCYP3AInducer
NaltrexoneAlcohol/Drug DependenceRelapse PreventionOPRM1Genotype Impact
ClozapineAntipsychoticSchizophreniaCYP1A2Genotype Impact
IloperidoneAntipsychoticSchizophreniaCYP2D6Genotype Impact
ThioridazineAntipsychoticSchizophreniaCYP2D6Genotype Impact
PerphenazineAntipsychoticSchizophrenia, Nausea/VomitingCYP2D6Genotype Impact
ZuclopenthixolAntipsychoticSchizophrenia, PsychosesCYP2D6Genotype Impact
BrivaracetamAntiepileptic/AnticonvulsantSeizures/EpilepsyCYP2C19Genotype Impact
CarbamazepineAntiepileptic/AnticonvulsantSeizures/EpilepsyCYP2C9, CYP2C19, CYP3A, CYP2B6Inducer
ClobazamBenzodiazepineSeizures/EpilepsyCYP2C19Genotype Impact
LacosamideAntiepileptic/AnticonvulsantSeizures/EpilepsyCYP2C19Genotype Impact
Phenobarbitone / PhenobarbitalAntiepileptic/AnticonvulsantSeizures/EpilepsyCYP1A2, CYP2C9, CYP3AInducer
PhenytoinAntiepileptic/AnticonvulsantSeizures/EpilepsyCYP2C9 / CYP1A2, CYP3AGenotype Impact, Inducer / Inducer
PrimidoneAntiepileptic/AnticonvulsantSeizures/EpilepsyCYP1A2, CYP2C9, CYP3AInducer
DiazepamBenzodiazepineSeizures/Epilepsy, Anxiety, Muscle SpasmsCYP2C19Genotype Impact
DapoxetineSexual DysfunctionSexual DysfunctionCYP2D6Genotype Impact
FlibanserinSexual DysfunctionSexual DysfunctionCYP2C19Genotype Impact
Pimozide AntipsychoticSymptoms Of Tourette SyndromeCYP2D6Genotype Impact
ValbenazineNeurological DrugsTardive DyskinesiaCYP2D6Genotype Impact
RifampicinAntibioticTuberculosis CYP1A2, CYP2C9, CYP2C19, CYP3A, CYP2B6Inducer
RifabutinAntibioticTuberculosis And Mycobacterium Avium Complex PreventionCYP2C9, CYP2C19, CYP3AInducer
GlibenclamideAntidiabeticType 2 DiabetesCYP2C9Genotype Impact
GliclazideAntidiabeticType 2 DiabetesCYP2C9, CYP2C19Genotype Impact
GlimepirideAntidiabeticType 2 DiabetesCYP2C9Genotype Impact
GlipizideAntidiabeticType 2 DiabetesCYP2C9Genotype Impact
GlyburideAntidiabeticType 2 DiabetesCYP2C9Genotype Impact
Lineagen

AD = autosomal dominant
AR = autosomal recessive

XL = X-linked
IEM = inborn error of metabolism

MCA = multiple congenital anomaly syndrome