Gene / Medication Search Tool
Gene | Condition | Inheritance | Seizure Onset | Category | Treatment/Management |
---|---|---|---|---|---|
ABCD1 | Adrenoleukodystrophy, adrenomyeloneuropathy | XL | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1315/ |
ADSL | Adenylosuccinase deficiency | AR | Infantile/childhood | IEM | |
AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD | Infantile | MCA | |
ALDH7A1 | Pyridoxine-dependent epilepsy | AR | Infantile | IEM | https://onlinelibrary.wiley.com/doi/10.1002/jimd.12332 https://www.ncbi.nlm.nih.gov/books/NBK1486/ |
AMT | Glycine encephalopathy | AR | Infantile | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1357/ https://link.springer.com/article/10.1007%2Fs11940-017-0467-0 |
ANKRD11 | KBG syndrome | AD | Childhood | MCA | |
ARG1 | Argininemia | AR | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1159/ |
ARHGEF9 | Early infantile epileptic encephalopathy type 8 | XL | Infantile | ||
ARID1B | Coffin-Siris syndrome type 1 | AD | Childhood | MCA | https://www.ncbi.nlm.nih.gov/books/NBK541502/ |
ARL13B | Joubert syndrome type 8 | AR | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1325/ |
ARSA | Metachromatic leukodystrophy | AR | Infantile/childhood/adult | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1130/ |
ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR | Childhood/adult | IEM | |
ASAH1 | Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy | AR | Infantile | IEM | https://www.ncbi.nlm.nih.gov/books/NBK488189/ |
ASPM | Primary microcephaly type 5 | AR | Infantile | Brain malformation | |
ATIC | AICA-ribosiduria due to ATIC deficiency | AR | Infantile/childhood | IEM | |
ATP1A2 | Alternating hemiplegia of childhood type 1, familial basilar migraine, familial hemiplegic migraine type 2 | AD | Childhood | ||
ATP2A2 | Acrokeratosis verruciformis, Darier disease | AD | Childhood/teen | Channelopathy | |
ATP6AP2 | ?Parkinsonism with spasticity, Syndromic intellectual disability (Hedera type) | XL | Infantile | MCA | |
ATP6V0A2 | Wrinkly skin syndrome, cutis laxa type IIA | AR | Infantile | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK5200/ |
ATRX | Alpha-thalassemia/intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome | XL | Childhood | MCA | |
AUH | 3-methylglutaconic aciduria type I | AR | Childhood/adult | IEM | |
B4GALT1 | Congenital disorder of glycosylation type IId | AR | Childhood | IEM | |
BCKDK | Branched-chain ketoacid dehydrogenase kinase deficiency | unk | Childhood | IEM | https://pubmed.ncbi.nlm.nih.gov/22956686/ |
BCS1L | Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1 | AR | Infantile | MCA | |
BOLA3 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR | Infantile | IEM | |
BRAF | Cardiofaciocutaneous syndrome, LEOPARD syndrome type 3, Noonan syndrome type 7 | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1383/ https://www.ncbi.nlm.nih.gov/books/NBK1186/ |
BTD | Biotinidase deficiency | AR | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1322/ |
C12orf57 | Temtamy syndrome | AR | Infantile | MCA | |
CACNA1A | Early infantile epileptic encephalopathy type 42, episodic ataxia type 2, familial hemiplegic migraine type 1 (with progressive cerebellar ataxia), spinocerebellar ataxia type 6 | AD | Infantile | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK1501/ |
CACNA1E | Developmental and epileptic encephalopathy type 69 | AD | Infantile | Channelopathy | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110/ |
CACNA1H | Familial Hyperaldosteronism type IV, susceptibility to childhood absence epilepsy type 6, susceptibility to idiopathic generalized epilepsy | AD | Childhood | Channelopathy | |
CACNB4 | Susceptibility to idiopathic generalized epilepsy type 9, susceptibility to juvenile myoclonic epilepsy type 6, episodic ataxia type 5 | AD | Childhood/teen | Channelopathy | |
CASK | Intellectual disability and microcephaly with pontine and cerebellar hypoplasia, FG syndrome type 4, intellectual disability with or without nystagmus | XL | Childhood | MCA | |
CASR | Neonatal hyperparathyroidism (AD/AR), Hypocalcemia (with Bartter syndrome), Hypocalciuric hypercalcemia type I, susceptibility to idiopathic generalized epilepsy type 8 | AD | Childhood | Channelopathy | https://academic.oup.com/jcem/article/85/12/4583/2853448 |
CC2D2A | COACH syndrome, Joubert syndrome type 9, Meckel syndrome type 6 | AR | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1325/ |
CDKL5 | Early infantile epileptic encephalopathy type 2 | XL | Infantile | ||
CENPJ | Primary microcephaly type 6, ?Seckel syndrome type 4 | AR | Childhood | MCA | |
CEP290 | Joubert syndrome type 5, Leber congenital amaurosis type 10, Meckel syndrome type 4, Senior-Loken syndrome type 6, ?Bardet-Biedl syndrome type 14 | AR | Infantile | MCA | https://pubmed.ncbi.nlm.nih.gov/20690115/ https://pubmed.ncbi.nlm.nih.gov/19764032/ |
CHD2 | Childhood-onset epileptic encephalopathy | AD | Childhood | ||
CHRNA2 | Nocturnal frontal lobe epilepsy type 4 | AD | Childhood | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK1169/ |
CHRNA4 | Nocturnal frontal lope epilepsy type 1 | AD | Childhood | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK1169/ |
CHRNB2 | Nocturnal frontal lope epilepsy type 3 | AD | Childhood | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK1169/ |
CLCN2 | Susceptibility 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) | AD | Childhood/teen | Channelopathy | |
CLCN4 | Raynaud-Claes syndrome | XL | Infantile | Channelopathy | |
CLN3 | Neuronal Ceroid lipofuscinosis type 3 | AR | Childhood | IEM | |
CLN5 | Neuronal Ceroid lipofuscinosis type 5 | AR | Childhood | IEM | |
CLN6 | Neuronal Ceroid lipofuscinosis type 6, Adult onset neuronal Ceroid lipofuscinosis Kufs type | AR | Adult | IEM | |
CLN8 | Neuronal Ceroid lipofuscinosis type 8 (Northern epilepsy variant) | AR | Childhood | IEM | |
CNNM2 | Hypomagnesemia, seizures, and intellectual disability (AD/AR), renal hypomagnesemia type 6 | AD | Infantile | Channelopathy | |
CNTNAP2 | Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins like syndrome type 1 | AR | Childhood | Channelopathy | |
COG8 | Congenital disorder of glycosylation type IIh | Unk | Childhood | IEM | |
COL4A1 | Hereditary 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 arteries | AD | Childhood | MCA | |
COQ2 | Primary Coenzyme Q10 deficiency type 1, susceptibility to Multiple system atrophy (AD/AR) | AR | Infantile/childhood | IEM | https://n.neurology.org/content/57/3/515.long |
COQ8A | Primary Coenzyme Q10 deficiency type 4 | AR | Childhood | IEM | https://n.neurology.org/content/63/4/727.long |
COX10 | Leigh syndrome due to mitochondrial COX4 deficiency, Mitochondrial complex IV deficiency (mitochondrial) | AR | Infantile/childhood/adult | IEM | |
CPA6 | Familial febrile seizures type 11, familial temporal lobe epilepsy type 5 (AD/AR) | AR | childhood/adult | ||
CPT2 | Infantile 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) | AR | Infantile/childhood/adult | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1253/ |
CRH | Nocturnal frontal lobe epilepsy | AD | Childhood | https://www.ncbi.nlm.nih.gov/books/NBK1169/ | |
CSTB | Progressive myoclonic epilepsy type 1A (Unverricht and Lundborg) | AR | Childhood | IEM | |
CTSA | Galactosialidosis | AR | Childhood | IEM | |
CUL4B | Syndromic intellectual disability, Cabezas type | XL | Childhood | MCA | |
DCX | Lissencephaly, Subcortical laminal heterotopia | XL | Infantile | Brain malformation | |
DDC | Aromatic L-amino acid decarboxylase deficiency | AR | Infantile | IEM | https://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0522-z |
DEPDC5 | Familial focal epilepsy with variable foci type 1 | AD | Childhood/teen | https://www.ncbi.nlm.nih.gov/books/NBK1169/ | |
DHFR | Megaloblastic anemia due to dihydrofolate reductase deficiency | AR | Infantile/Childhood | IEM | https://www.cell.com/ajhg/fulltext/S0002-9297(11)00005-X https://www.cell.com/ajhg/fulltext/S0002-9297(11)00008-5 |
DLD | Dihydrolipoamide dehydrogenase deficiency | AR | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK220444/ |
DOLK | Congenital disorder of glycosylation type Im | AR | Infantile | IEM | |
DPAGT1 | Congenital disorder of glycosylation type Ij, Congenital Myasthenic syndrome type 13 with tubular aggregates | AR | Infantile | IEM | |
DPM1 | Congenital disorder of glycosylation type Ie | AR | Infantile | IEM | |
DPYD | Dihydropyrimidine dehydrogenase deficiency, 5-fluorouracil toxicity | AR | Childhood | IEM | https://pubmed.ncbi.nlm.nih.gov/28929491/ https://pubmed.ncbi.nlm.nih.gov/28395758/ |
DYNC1H1 | Lower extremity-predominant spinal musuclar atrophy type 1, Charcot-Marie-Tooth disease axonal type 20, Intellectual disability type 13 | AD | Childhood | MCA | |
DYRK1A | Intellectual disability type 7 | AD | Infantile | MCA | |
EEF1A2 | Early infantile Epileptic encephalopathy type 33, Intellectual disability type 38 | AD | Infantile | ||
EHMT1 | Kleefstra syndrome type 1 | AD | Childhood | MCA | https://www.ncbi.nlm.nih.gov/books/NBK47079/ |
EIF2B1 | Leukoencephalopathy with vanishing white matter | AR | Infantile/adult | Brain malformation | |
EIF2B2 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR | Infantile/adult | Brain malformation | |
EIF2B3 | Leukoencephalopathy with vanishing white matter | AR | infantile/adult | Brain malformation | |
EIF2B4 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR | infantile/adult | Brain malformation | |
EIF2B5 | Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy | AR | Infantile/adult | Brain malformation | |
EMX2 | Schizencephaly | Unk | Infantile | Brain malformation | |
EPM2A | Progressive myoclonic 2A (Lafora) epilepsy | AR | Childhood | IEM | |
FH | Fumarase deficiency, Leiomyomatosis and renal cell cancer | AR/AD | Infantile/adult | IEM | |
FLNA | Cardiac 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 2 | XL | Infantile | MCA | |
FOLR1 | Neurodegeneration due to cerebral folate transport deficiency | AR | Infantile | IEM | https://pubmed.ncbi.nlm.nih.gov/19732866/ |
FOXG1 | FOXG-1 related syndrome/congenital Rett syndrome | AD | Infantile/childhood | Brain malformation | |
GABBR2 | Developmental and epileptic encaphalopathy type 59 | AD | Infantile | Channelopathy | https://www.pedneur.com/article/S0887-8994(19)30245-0/fulltext |
GABRA1 | Early infantile Epileptic encephalopathy type 19, Susceptibility to child absence epilepsy type 4, Susceptibility to juvenile myoclonic epilepsy type 5 | AD | Infantile | Channelopathy | https://pubmed.ncbi.nlm.nih.gov/23038269/ |
GABRB3 | Early infantile epileptic encephalopathy type 43, Susceptibility to childhood absence epilepsy type 5 | AD | Infantile | Channelopathy | https://pubmed.ncbi.nlm.nih.gov/23038269/ |
GABRD | Idiopathic generalized epilepsy type 10, susceptibility to juvenile myoclonic epilepsy, susceptibility to generalized epilepsy with febrile seizures plus type 5 | AD | Childhood | Channelopathy | |
GABRG2 | Generalized epilepsy with febrile seizures plus type 3, Early infantile epileptic encephalopathy type 74, Familial febrile seizures type 8 | AD | Infantile | Channelopathy | |
GALC | Krabbe disease | AR | Infantile/Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1238/ |
GAMT | Cerebral creatine deficiency syndrome type 2 | AR | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK3794/ |
GATM | Cerebral creatine deficiency syndrome type 3 | AR | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK3794/ |
GCH1 | BH4-deficient hyperphenylalaninemia | AR | Infantile | IEM | https://link.springer.com/article/10.1007%2Fs11940-017-0467-0 |
GCSH | ?Glycine encephalopathy | AR | Infantile | IEM | https://pubmed.ncbi.nlm.nih.gov/26109259/ |
GFAP | Alexander disease | AD | Infantile/childhood/adult | Brain malformation | |
GLB1 | GM1-gangliosidosis type I, II, III, Mucopolysaccharidosis type IVB (Morquio) | AR | Infantile/childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK164500/ |
GLDC | Glycine encephalopathy | AR | Infantile | IEM | https://onlinelibrary.wiley.com/doi/abs/10.1002/ana.20759 |
GLI3 | Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Postaxial polydactyly types A1, B, preaxial polydactyly type IV | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1446/ |
GLRA1 | Hyperekplexia type 1 | AD/AR | https://www.jns-journal.com/article/S0022-510X(20)30388-9/fulltext | ||
GLRB | Hyperekplexia type 2 | AR | https://www.jns-journal.com/article/S0022-510X(20)30388-9/fulltext | ||
GLUD1 | Hyperinsulinism-hyperammonemia syndrome | AD | Childhood | IEM | |
GNAO1 | Early infantile epileptic encephalopathy type 17, Neurodevelopmental disorder with involuntary movements | AD | Infantile | ||
GNE | Sialuria, Nonaka myopathy | AD/AR | Childhood/adult | IEM | |
GNS | Mucopolysaccharidosis type IIID | AR | Childhood | IEM | |
GOSR2 | Progressive myoclonic epilepsy type 6 | AR | Childhood | ||
GRIA3 | Intellectual disability type 94 | XL | Childhood | ||
GRIN1 | Neurodevelopmental disorder with or without hyperkinetic movements and seizure | AD/AR | Childhood | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK542807/ |
GRIN2A | Focal epilepsy with speech disorder with or without intellectual disability | AD | Childhood | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK385627/ |
GRIN2B | Early infantile epileptic encephalopathy type 27, intellectual disability type 6 | AD | Infantile | channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK501979/ |
HECW2 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | AD | Childhood | MCA | |
HEXA | Tay-Sachs disease, GM2-gangliosidosis, Hex A pseudodeficiency | AR | Infantile | IEM | |
HEXB | Sandhoff disease, infantile, juvenile, and adult forms | AR | Infantile/childhood | IEM | |
HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C), Retinitis pigmentosa type 73 | AR | Childhood | IEM | |
HSD17B10 | HSD10 mitochondrial disease | XL | Infantile/childhood | IEM | |
IDS | Mucopolysaccharidosis II | XL | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1274/ |
IQSEC2 | Intellectual disability type 1 or 78 | XL | Childhood | ||
KANSL1 | Koolen-De Vries syndrome | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK24676/ |
KCNA1 | Episodic ataxia/myokymia syndrome | AD | Childhood | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK25442/ |
KCNA2 | Developmental and epileptic encephalopathy type 32 | AD | Infantile | https://link.springer.com/article/10.1007%2Fs13311-020-00835-4 | |
KCNB1 | Early infantile epileptic encephalopathy type 26 | AD | Infantile | Channelopathy | |
KCNC1 | Progressive myoclonic epilepsy type 7 | AD | Childhood/teen | Channelopathy | |
KCNMA1 | Liang-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) | AD | Infantile | Channelopathy | |
KCNQ2 | Early infantile epileptic encephalopathy type 7, benign neonatal seizures type 1, myokymia | AD | Infantile | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK32534/ |
KCNQ3 | Benign neonatal seizures type 2 | AD | Infantile | Channelopathy | https://onlinelibrary.wiley.com/doi/full/10.1111/epi.13596 |
KCNT1 | Nocturnal frontal lobe epilepsy type 5, Early infantile epileptic encephalopathy type 14 | AD | Infantile | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK1169/ |
KDM5C | Syndromic intellectual disability, Claes-Jensen type | XL | Childhood | MCA | |
KDM6A | Kabuki syndrome type 2 | XL | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK62111/ |
KMT2D | Kabuki syndrome type 1 | AD | Childhood | MCA | https://www.ncbi.nlm.nih.gov/books/NBK62111/ |
L2HGDH | L-2-hydroxyglutaric aciduria | AR | Childhood | IEM | |
LAMA2 | Congenital merosin deficient or partially deficient muscular dystrophy, limb-girdle muscular dystrophy type 23 | AR | Childhood | ||
LGI1 | Familial temporal lobe epilepsy type 1 | AD | Childhood/teen | ||
LRPPRC | French-Canadian type Leigh syndrome | AR | Infantile | Brain malformation | |
MAP2K1 | Cardiofaciocutaneous syndrome 3 | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1186/ |
MBD5 | Intellectual disability type 1 | AD | Childhood | ||
MECP2 | Rett syndrome | XL | Childhood | https://www.ncbi.nlm.nih.gov/books/NBK1497/ | |
MEF2C | Intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations | AD | Childhood | MCA | |
MFSD8 | Neuronal Ceroid lipofuscinosis type 7, Macular dystrophy with central cone involvement | AR | Childhood | Brain malformation | https://www.nejm.org/doi/10.1056/NEJMoa1813279?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dpubmed |
MGAT2 | Congenital disorder of glycosylation type IIa | AR | Childhood | IEM | |
MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts | AR | Childhood | Channelopathy | |
MOCS1 | Molybdenum cofactor deficiency type A | AR | Infantile | https://www.sciencedirect.com/science/article/abs/pii/S1096719215300809?via%3Dihub https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565584/ | |
MTOR | Smith-Kingsmore syndrome | AD | Infantile | MCA | |
NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B), ?Axonal Charcot-Marie-Tooth disease type 2V (AD) | AR | Childhood | IEM | |
NDUFA1 | Mitochondrial complex I deficiency nuclear type 12 | XL | Childhood | Brain malformation | |
NDUFA2 | ?Mitochondrial complex I deficiency nuclear type 13 | AR | Infantile | ||
NDUFS1 | Mitochondrial complex I deficiency nuclear type 5 | AR | Childhood | Brain malformation | |
NDUFS3 | Mitochondrial complex I deficiency nuclear type 8 | AR | Childhood | Brain malformation | |
NDUFS4 | Mitochondrial complex I deficiency nuclear type 1 | AR | Chlidhood | Brain malformation | |
NDUFS7 | Mitochondrial complex I deficiency nuclear type 3 | AR | Childhood | Brain malformation | |
NDUFS8 | Mitochondrial complex I deficiency nuclear type 2 | AR | Childhood | Brain malformation | |
NDUFV1 | Mitochondrial complex I deficiency nuclear type 4 | AR | Childhood | Brain malformation | |
NEDD4L | Periventricular nodular heterotopia 7 | AD | Infantile | MCA | |
NEU1 | Sialidosis type I and II | AR | Childhood/adult | IEM | |
NEXMIF | Intellectual disability type 98 | XL | Childhood | MCA | |
NF1 | Neurofibromatosis type 1, Familial spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome | AD | Childhood | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1109/ |
NGLY1 | Congenital disorder of deglycosylation | AR | Childhood | IEM | |
NHLRC1 | Progressive myoclonic epilepsy type 2B (Lafora) | AR | Childhood | ||
NIPBL | Cornelia de Lange syndrome type 1 | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1104/ |
NPC1 | Niemann-Pick disease type C1 and D | AR | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1296/ |
NPC2 | Niemann-Pick disease type C2 | AR | Infantile/childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1296/ |
NRXN1 | Pitt-Hopkins-like syndrome type 2 | AR | Infantile | ||
NSD1 | Sotos syndrome type 1 | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1479/ |
OFD1 | Joubert syndrome type 10, Simpson-Golabi-Behmel syndrome type 2, Orofaciodigital syndrome type I, ?Retinitis pigmentosa type 23 | XL | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1325/ https://www.ncbi.nlm.nih.gov/books/NBK1188/ |
PANK2 | Neurodegeneration with brain iron accumulation type 1, HARP syndrome | AR | Childhood/adult | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1490/ |
PCDH19 | Early infantile Epileptic encephalopathy type 9 | XL | Infantile | ||
PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency | XL | Infantile | IEM | https://www.nature.com/articles/pr2003303 |
PHGDH | Phosphoglycerate dehydrogenase deficiency | AR | Infantile/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 | |
PHF6 | Borjeson-Forssman-Lehmann syndrome | XL | Childhood | MCA | |
PLA2G6 | Neurodegeneration with brain iron accumulation type 2B, Infantile neuroaxonal dystrophy type 1, Parkinson disease type 14 | AR | Childhood/adult | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1675/ |
PLP1 | Pelizaeus-Merzbacher disease, Spastic paraplegia 2 | XL | Infantile | https://www.ncbi.nlm.nih.gov/books/NBK1182/ | |
PMM2 | Congenital disorder of glycosylation type Ia | AR | Childhood | IEM | |
PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | AR | Infantile | IEM | https://link.springer.com/article/10.1007%2Fs13311-020-00835-4 https://link.springer.com/article/10.1007%2Fs11940-017-0467-0 |
POLG | Mitochondrial 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) | AR | Infantile/childhood | https://www.ncbi.nlm.nih.gov/books/NBK26471/ | |
PPP3CA | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, Infantile or early childhood epileptic encephalopathy type 1 | AD | Infantile | MCA | |
PPT1 | Neuronal Ceroid lipofuscinosis type 1 | AR | Infantile/childhood | IEM | |
PRICKLE1 | Progressive myoclonic epilepsy type 1B | AR | Childhood | ||
PRODH | Hyperprolinemia type I | AR | Childhood | IEM | |
PRRT2 | Episodic kinesigenic dyskinesia type 1, benign familial infantile seizures 2 | AD | Infantile | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283411/ | |
PSAP | Combined SAP deficiency, Atypical Krabbe disease, Metachromatic leukodystrophy due to SAP-b deficiency | AR | Infantile | IEM | |
PSPH | Phosphoserine phosphatase deficiency | AR | Infantile/childhood | IEM | 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 |
PURA | Intellectual disability type 31 | AD | Childhood | MCA | |
QDPR | BH4-deficient hyperphenylalaninemia | AR | Infantile | IEM | https://pubmed.ncbi.nlm.nih.gov/19234759/ |
RAB39B | Waisman syndrome, Intellectual disability type 72 | XL | Childhood | ||
RAI1 | Smith-Magenis syndrome | AD | Childhood | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1310/ |
RARS2 | Pontocerebellar hypoplasia type 6 | AR | Infantile | Brain malformation | |
RBFOX1 | Epilepsy, ASD, DD, hypotonia | AD | Childhood | ||
RBFOX3 | Rolandic epilepsy | AD | Childhood | ||
RELN | Lissencephaly type 2 (Norman-Roberts type), Familial temporal lobe epilepsy type 7 (AD) | AR | Infantile/childhood | MCA | |
RFT1 | Congenital disorder of glycosylation type In | AR | Infantile/childhood | IEM | |
RNASEH2A | Aicardi-Goutieres syndrome type 4 | AR | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1475/ |
RNASEH2B | Aicardi-Goutieres syndrome type 2 | AR | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1475/ |
RNASEH2C | Aicardi-Goutieres syndrome type 3 | AR | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1475/ |
ROGDI | Kohlschutter-Tonz syndrome | AR | Infantile | MCA | |
SAMHD1 | Aicardi-Goutieres syndrome 5 | AR | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1475/ |
SCN10A | Familial Episodic pain syndrome type 2 | AD | Adult | Channelopathy | |
SCN1A | Early infantile epileptic encephalopathy type 6 (Dravet syndrome), Generalized epilepsy with febrile seizures plus type 2, Familial febrile seizures type 3A, Familial hemiplegic migraine type 3 | AD | Infantile | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK1318/ |
SCN1B | Familial atrial fibrillation type 13, Generalized epilepsy with febrile seizures plus type 1, Early infantile epileptic encephalopathy type 52 (AR) | AD | Childhood | Channelopathy | |
SCN2A | Early infantile epeileptic encephalopathy type 11, benign infantile familial seizures type 3 | AD | Infantile | Channelopathy | |
SCN3A | Familial focal epilepsy with variable foci type 4, Early infantile epileptic encephalopathy type 62 | AD | Infantile | Channelopathy | |
SCN4A | Hyperkalemic periodic paralysis type 2, Hypokalemic periodic paralysis type 2, atypical acetazolamide-responsive Myotonia congenita, Paramyotonia congenita, congenital Myasthenic syndrome type 16 (AR) | AD | Childhood | Channelopathy | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731685/ |
SCN5A | Familial 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) | AD | Childhood/adult | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK1517/ |
SCN8A | Developmental and epileptic encephalopathy type 13, benign familial infantile seizures type 5 | AD | Infantile | IEM | https://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 |
SCN9A | Generalized 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) | AD | Childhood | Channelopathy | https://www.ncbi.nlm.nih.gov/books/NBK1163/ |
SDHA | Paraganglioma type 5, Leigh syndrome (AR), Mitochondrial respiratory chain complex II deficiency (AR) | AD | Infantile | Brain malformation | https://www.ncbi.nlm.nih.gov/books/NBK1548/ https://pubmed.ncbi.nlm.nih.gov/22972948/ |
SERPINI1 | Familial Encephalopathy with neuroserpin inclusion bodies | AD | Adult | Brain malformation | |
SETBP1 | Schinzel-Giedion midface retraction syndrome, Intellectual disability type 29 | AD | Infantile | MCA | |
SHANK3 | Phelan-McDermind syndrome | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1198/ |
SLC17A5 | Salla disease, Infantile Sialic acid storage disorder | AR | Infantile/adult | IEM | |
SLC19A3 | Thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK169615/ |
SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR | Childhood | IEM | https://pubmed.ncbi.nlm.nih.gov/25874378/ |
SLC2A1 | Infantile 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 12 | AD | Infantile/childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1430/ |
SLC46A1 | Hereditary folate metabolism | AR | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK1673/ |
SLC4A10 | Partial complex epilepsy and intellectual disability | AD | Childhood | Channelopathy | |
SLC6A1 | Myoclonic-atonic epilepsy | AD | Childhood | ||
SLC6A5 | Hyperekplexia type 3 | AD/AR | https://www.jns-journal.com/article/S0022-510X(20)30388-9/fulltext | ||
SLC6A8 | Cerebral creatine deficiency syndrome type 1 | XL | Childhood | IEM | https://www.ncbi.nlm.nih.gov/books/NBK3794/ |
SLC9A6 | Intellectual disability Christianson type | XL | Childhood | Channelopathy | |
SMARCA2 | Nicolaides-Baraitser syndrome | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK321516/ |
SMC1A | Cornelia de Lange syndrome 2 | XL | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1104/ |
SMC3 | Cornelia de Lange syndrome type 3 | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1104/ |
SMS | Snyder-Robinson type intellectual disability | XL | Childhood | IEM | |
ST3GAL5 | Salt and pepper developmental regression syndrome | AR | Infantile | ||
STX1B | Generalized epilepsy with febrile seizures plus type 9 | AD | Childhood | https://pubmed.ncbi.nlm.nih.gov/30737342/ | |
STXBP1 | Early infantile epileptic encephalopathy type 4 | AD | Infantile | https://www.ncbi.nlm.nih.gov/books/NBK396561/ | |
SYN1 | Epilepsy with variable learning disabilities and behavior disorders | XL | Childhood | ||
SYNGAP1 | Intellectual disability type 5 | AD | Childhood | ||
SZT2 | Early infantile Epileptic encephalopathy type 18 | AR | Infantile | MCA | |
TBL1XR1 | Pierpont syndrome, Intellectual disability type 41 | AD | Childhood | MCA | |
TBX1 | Velocardiofacial syndrome, DiGeorge syndrome, Tetralogy of Fallot, Conotruncal anomaly face syndrome | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1523/ |
TCF4 | Pitt-Hopkins syndrome, Fuchs endothelial Corneal dystrophy type 3 | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK100240/ |
TPK1 | Thiamine metabolism dysfunction syndrome type 5 | AR | Childhood | IEM | https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0040-1715631 https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12125 |
TPP1 | Neuronal Ceroid lipofuscinosis type 2, Spinocerebellar ataxia type 7 | AR | Childhood | IEM | |
TREX1 | Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Susceptibility to Systemic lupus erythematosus, Aicardi-Goutieres syndrome 1 (AD/AR) | AD | Infantile | Brain malformation | https://www.ncbi.nlm.nih.gov/books/NBK1475/ |
TSC1 | Tuberous sclerosis type 1 | AD | Childhood | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1220/ |
TSC2 | Tuberous sclerosis type 2 | AD | Childhood | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1220/ |
TUBA1A | Lissencephaly type 3 | AD | Chilhood | Brain malformation | |
TUBB2B | Complex Cortical dysplasia with other brain malformations type 7 | AD | Infantile | Brain malformation | |
TWNK | Progressive external ophthalmoplegia with mitochondrial DNA deletions type 3, Perrault syndrome type 5 (AR), Mitochondrial DNA depletion syndrome type 7 (hepatocerebral type; AR) | AD | Childhood/teen | MCA | |
UBE2A | Nascimento-type intellectual disability | XL | Infantile | MCA | |
UBE3A | Angelman syndrome | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1144/ |
UNC80 | Infantile hypotonia with psychomotor delay and characteristic facies type 2 | AR | Infantile | MCA | |
VPS13A | Choreoacanthocytosis | AR | Adult | Brain malformation | https://www.ncbi.nlm.nih.gov/books/NBK1387/ |
WDR45 | Neurodegeneration with brain iron accumulation 5 | XL | Childhood | Brain malformation | https://www.ncbi.nlm.nih.gov/books/NBK424403/ |
ZEB2 | Mowat-Wilson syndrome | AD | Infantile | MCA | https://www.ncbi.nlm.nih.gov/books/NBK1412/ |
Medication | Drug Category | Used to treat | Gene(s) | Report type* | |
---|---|---|---|---|---|
Cimetidine | Antihistamine/Antacid | Acid Reflux, Stomach Ulcers | CYP3A | Moderate Inhibitor | |
Amphetamine | Psychostimulant | ADHD | CYP2D6 | Genotype Impact | |
Atomoxetine | ADHD Medication | ADHD | CYP2D6 | Genotype Impact | |
Dexamphetamine / Dextroamphetamine | Psychostimulant | ADHD | CYP2D6 | Genotype Impact | |
Lisdexamfetamine | Psychostimulant | ADHD | CYP2D6 | Genotype Impact | |
Chlorpheniramine | Antihistamine | Allergies | CYP2D6 | Genotype Impact | |
Dexchlorpheniramine | Antihistamine | Allergies | CYP2D6 | Genotype Impact | |
Promethazine | Antihistamine | Allergies | CYP2D6 | Genotype Impact | |
Montelukast | Anti-Inflammatory | Allergies, Asthma Attacks | CYP1A2 | Inducer | |
Perhexiline | Antianginals | Angina (From Ischaemic Heart Disease) | CYP2D6 | Genotype Impact, Strong Inhibitor | |
Ethinylestradiol | Oral Contraceptive | Birth Control, Menopausal Symptoms, Gynecological Disorders | CYP1A2 | Moderate Inhibitor | |
Acenocoumarol | Anticoagulant (Blood Thinner) | Blood Clots | VKORC1, CYP2C9 | Genotype Impact | |
Warfarin | Anticoagulant (Blood Thinner) | Blood Clots | VKORC1, CYP2C9 | Genotype Impact | |
Tamoxifen | Estrogen Modulator | Breast Cancer | CYP2D6 | Genotype Impact | |
Tetrabenazine | Involuntary Movement Reducer | Chorea (Caused By Huntington Disease) | CYP2D6 | Genotype Impact | |
Deutetrabenazine | Neurological Drugs | Chorea (Caused By Huntington Disease), Tardive Dyskinesia | CYP2D6 | Genotype Impact | |
Dextromethorphan | Antitussive | Cough Suppressant | CYP2D6 | Genotype Impact | |
Agomelatine | Antidepressant | Depression | CYP1A2 | Genotype Impact | |
Amitriptyline | Antidepressant - Tricyclic | Depression, Nerve Pain, Migraine | CYP2D6, CYP2C19 | Genotype Impact | |
Amoxapine | Antidepressant - Tricyclic | Depression | CYP2D6 | Genotype Impact | |
Citalopram | Antidepressant - Ssri | Depression, OCD, panic disorder, social phobia | CYP2C19 | Genotype Impact | |
Clomipramine | Antidepressant - Tricyclic | Depression, OCD, panic disorder, chronic pain, nerve pain | CYP2D6, CYP2C19 | Genotype Impact | |
Desipramine | Antidepressant - Tricyclic | Depression, Nerve Pain | CYP2D6 | Genotype Impact | |
Dothiepin / Dosulepin | Antidepressant - Tricyclic | Depression | CYP2D6, CYP2C19 | Genotype Impact | |
Doxepin | Antidepressant - Tricyclic | Depression, Nerve Pain | CYP2D6, CYP2C19 | Genotype Impact | |
Duloxetine | Antidepressant - Snri | Depression, Anxiety, Diabetic Peripheral Neuropathy, Fibromyalgia, Chronic Muscle/Bone Pain | CYP2D6, CYP1A2 | Genotype Impact | |
Escitalopram | Antidepressant - Ssri | Depression, Generalized Anxiety Disorder | CYP2C19 | Genotype Impact | |
Fluoxetine | Antidepressant - Ssri | Depression, OCD, bulimia nervosa, panic disorder | CYP2D6, CYP2C9 / CYP2C19 / CYP2D6 | Genotype Impact / Moderate Inhibitor / Strong Inhibitor | |
Fluvoxamine | Antidepressant - Ssri | Depression, OCD | CYP2D6, CYP1A2 / CYP1A2, CYP2C19 / CYP3A | Genotype Impact / Strong Inhibitor / Moderate Inhibitor | |
Imipramine | Antidepressant - Tricyclic | Depression, Nerve Pain, Anxiety, Panic Disorder | CYP2D6, CYP2C19 | Genotype Impact | |
Mianserin | Antidepressant | Depression | CYP2D6 | Genotype Impact | |
Mirtazapine | Antidepressant | Depression | CYP2D6, CYP1A2 | Genotype Impact | |
Moclobemide | Antidepressant | Depression, Social Anxiety | CYP2C19 / CYP2D6 | Genotype Impact, Moderate Inhibitor / Moderate Inhibitor | |
Nortriptyline | Antidepressant - Tricyclic | Depression, Nerve Pain, Anxiety | CYP2D6 | Genotype Impact | |
Paroxetine | Antidepressant - Ssri | Depression, anxiety, OCD, premenstrual dysmorphic disorder | CYP2D6 | Genotype Impact, Strong Inhibitor | |
Protriptyline | Antidepressant - Tricyclic | Depression, Nerve Pain, Migraine | CYP2D6 | Genotype Impact | |
Trimipramine | Antidepressant - Tricyclic | Depression, Nerve Pain, Myelodysplastic Syndrome | CYP2D6, CYP2C19 | Genotype Impact | |
Venlafaxine | Antidepressant - Snri | Depression, Nerve Pain, Generalized Anxiety Disorder, Panic Disorder, And Social Anxiety | CYP2D6 | Genotype Impact | |
Vortioxetine | Antidepressant | Depression | CYP2D6 | Genotype Impact | |
Duloxetine | Antidepressant/Nerve Pain Medication | Depression, Anxiety, Diabetic Peripheral Neuropathy, Fibromyalgia, Chronic Muscle/Bone Pain | CYP2D6 | Moderate Inhibitor | |
Doxepin | Antidepressant/Nerve Pain Medication | Depression, Anxiety, Sleep Disorders | CYP2D6 | Moderate Inhibitor | |
Sertraline | Antidepressant - Ssri | Depression, OCD, PTSD, anxiety, panic disorder | CYP2C19 | Genotype Impact | |
Brexpiprazole | Antipsychotic | Depression, Schizophrenia | CYP2D6 | Genotype Impact | |
Quetiapine | Antipsychotic | Depression, Schizophrenia, Bipolar Disorder | CYP3A4 | Genotype Impact | |
Bupropion | Antidepressant | Depression, Smoking Cessation | CYP2D6 | Strong Inhibitor | |
Clarithromycin | Antibiotic | Duodenal Ulcers (Caused By H. Pylori), Prevent Infections | CYP3A | Strong Inhibitor | |
Tamsulosin | Urinary Retention | Enlarged Prostate | CYP2D6 | Genotype Impact | |
Armodafinil | Stimulant | Excessive Sleepiness | CYP3A | Inducer | |
Modafinil | Stimulant | Excessive Sleepiness | CYP3A | Inducer | |
Fluconazole | Antifungal | Fungal Infections | CYP2C9 / CYP2C19 / CYP3A | Moderate Inhibitor / Strong Inhibitor / Moderate Inhibitor | |
Itraconazole | Antifungal | Fungal Infections | CYP3A | Strong Inhibitor | |
Miconazole | Antifungal | Fungal Infections | CYP2C9 | Moderate Inhibitor | |
Posaconazole | Antifungal | Fungal Infections | CYP3A | Strong Inhibitor | |
Terbinafine | Antifungals | Fungal Infections | CYP2D6 | Moderate Inhibitor | |
Voriconazole | Antifungals- Azoles | Fungal Infections | CYP2C19 / CYP3A | Genotype Impact, Moderate Inhibitor / Strong Inhibitor | |
Eliglustat | Gaucher Disease Treatment | Gaucher Disease (Genetic Condition) | CYP2D6 | Genotype Impact | |
Metoclopramide | Antiemetic | GERD, gastroparesis in diabetes | CYP2D6 | Genotype Impact | |
Dexlansoprazole | Proton Pump Inhibitor | Heartburn, Gerd, Esophageal Damage | CYP2C19 | Genotype Impact | |
Esomeprazole | Proton Pump Inhibitor | Heartburn, Gerd, Esophageal Damage | CYP2C19 | Genotype Impact, Moderate Inhibitor | |
Lansoprazole | Proton Pump Inhibitor | Heartburn, Gerd, Esophageal Damage | CYP2C19 | Genotype Impact | |
Omeprazole | Proton Pump Inhibitor | Heartburn, Gerd, Esophageal Damage | CYP2C19 / CYP1A2 | Genotype Impact, Moderate Inhibitor / Inducer | |
Pantoprazole | Proton Pump Inhibitor | Heartburn, Gerd, Esophageal Damage | CYP2C19 | Genotype Impact | |
Rabeprazole | Proton Pump Inhibitor | Heartburn, Gerd, Esophageal Damage | CYP2C19 | Genotype Impact | |
Asunepravir | Experimental | Hepatitis C | CYP2D6 | Moderate Inhibitor | |
Bocepravir | Protease Inhibitor | Hepatitis C | CYP3A | Strong Inhibitor | |
Irbesartan | Angiotensin Receptor Blocker | High Blood Pressure | CYP2C9 | Genotype Impact | |
Losartan | Angiotensin Receptor Blocker | High Blood Pressure | CYP2C9 | Genotype Impact | |
Diltiazem | Antihypertensive/Calcium Blocker | High Blood Pressure, Angina | CYP3A | Moderate Inhibitor | |
Verapamil | Antihypertensive/Calcium Blocker | High Blood Pressure, Angina, Arrhythmia | CYP3A | Moderate Inhibitor | |
Carvedilol | Beta Blocker | High Blood Pressure, Heart Failure | CYP2D6 | Genotype Impact | |
Metoprolol | Beta Blocker | High Blood Pressure, Heart Failure | CYP2D6 | Genotype Impact | |
Nebivolol | Beta Blocker | High Blood Pressure, Heart Failure | CYP2D6 | Genotype Impact | |
Propranolol | Beta Blocker | High Blood Pressure, Heart Failure | CYP2D6, CYP1A2 | Genotype Impact | |
Timolol | Beta Blocker | High Blood Pressure, Migraine, Glaucoma/Ocular Hypertension | CYP2D6 | Genotype Impact | |
Lesinurad | Urate Transporter Inhibitor | High Blood Uric Acid | CYP2C9 | Genotype Impact | |
Atorvastatin | Statin | High Cholesterol | SLCO1B1, CYP3A4 | Genotype Impact | |
Fluvastatin | Statin | High Cholesterol | SLCO1B1, CYP2C9 | Genotype Impact | |
Pravastatin | Statin | High Cholesterol | SLCO1B1 | Genotype Impact | |
Rosuvastatin | Statin | High Cholesterol | SLCO1B1 | Genotype Impact | |
Simvastatin | Statin | High Cholesterol | SLCO1B1, CYP3A4 | Genotype Impact | |
Atazanavir | Antiviral | HIV | CYP3A5 / CYP3A | Genotype Impact / Moderate Inhibitor | |
Cobicistat | Antiviral | HIV | CYP3A | Strong Inhibitor | |
Darunavir/Ritonavir | Antiviral | HIV | CYP3A | Strong Inhibitor | |
Efavirenz | Antiviral | HIV | CYP2B6 / CYP2C19, CYP3A, CYP2B6 | Genotype Impact / Inducer | |
Etravirine | Antiviral | HIV | CYP3A | Inducer | |
Fosamprenavir | Antiviral | HIV | CYP3A | Moderate Inhibitor | |
Indinavir | Antiviral | HIV | CYP3A | Strong Inhibitor | |
Lopinavir/Ritonavir | Antiviral | HIV | CYP2C19 / CYP3A | Inducer / Strong Inhibitor | |
Nevirapine | Antiviral | HIV | CYP2B6 / CYP3A | Genotype Impact / Inducer | |
Ritonavir | Antiviral | HIV | CYP2B6 / CYP2D6 / CYP3A | Inducer / Moderate Inhibitor / Strong Inhibitor | |
Saquinavir | Antiviral | HIV | CYP3A | Strong Inhibitor | |
Tipranavir | Antiviral | HIV | CYP2D6 | Moderate Inhibitor | |
Tipranavir / Ritonavir | Antiviral | HIV | CYP3A / CYP2C19 | Strong Inhibitor / Inducer | |
Cinacalcet | Calcium Reducer | Hypercalcemia | CYP2D6 | Moderate Inhibitor | |
Conivaptan | Aquaretic | Hyponatremia | CYP3A | Strong Inhibitor | |
Ciprofloxacin | Antibiotic | Infections | CYP1A2 / CYP3A | Strong Inhibitor / Moderate Inhibitor | |
Erythromycin | Antibiotics/Gut Motility Stimulator | Infections | CYP3A | Moderate Inhibitor | |
Dexamethasone | Corticosteroid | Inflammation | CYP3A | Inducer | |
Melatonin | Hypnotics | Insomnia | CYP1A2 | Genotype Impact | |
Amiodarone | Antiarrhythmics | Irregular Heartbeat | CYP2C9 | Moderate Inhibitor | |
Flecainide | Antiarrhythmics | Irregular Heartbeat | CYP2D6 | Genotype Impact, Moderate Inhibitor | |
Propafenone | Antiarrhythmics | Irregular Heartbeat | CYP2D6 | Genotype Impact | |
Risperidone | Antipsychotic | Irritability Associated With Autism; Schizophrenia, Bipolar Disorder | CYP2D6 | Genotype Impact | |
Aripiprazole | Antipsychotic | Irritability Associated With Autism; Schizophrenia, Bipolar Disorder, Depression, Symptoms Of Tourette Syndrome | CYP2D6 | Genotype Impact | |
Imatinib | Chemotherapy | Leukema And Other Cancers | CYP3A | Moderate Inhibitor | |
Cyclophosphamide | Immunosuppressant/Chemotherapy | Leukemia, Lymphomas, Nephrotic Syndrome | CYP2C19 | Genotype Impact | |
Proguanil | Antimalarial | Malaria | CYP2C19 | Genotype Impact | |
Quinine | Antimalarial | Malaria | CYP2D6 | Moderate Inhibitor | |
Vemuranfenib | Chemotherapy | Melanoma | CYP1A2 | Moderate Inhibitor | |
Dabrafenib | Chemotherapy | Melanoma, Braf-Mutated Cancers | CYP3A | Inducer | |
Olanzapine | Antipsychotic | Mental Disorders, Schizophrenia, And Bipolar Disorder | CYP1A2 | Genotype Impact | |
Haloperidol | Antipsychotic | Mental Disorders, Symptoms Of Tourette Syndrome | CYP2D6 | Genotype Impact | |
Chlorpromazine | Antipsychotic | Mental Illness, Behavioral Disorders, Nausea/Vomiting | CYP2D6 | Genotype Impact | |
Carisoprodol | Neurological Drugs | Muscle Relaxant | CYP2C19 | Genotype Impact | |
Aprepitant | Antinausea/Antiemetic | Nausea, Vomiting | CYP3A | Moderate Inhibitor | |
Ondansetron | Antiemetic | Nausea, Vomiting | CYP2D6 | Genotype Impact | |
Tropisetron | Antiemetic | Nausea, Vomiting | CYP2D6 | Genotype Impact | |
Dronabinol | Antiemetic/Orexigenic | Nausea, Vomiting / Loss Of Appetite, Weight Loss | CYP2C9 | Genotype Impact | |
Crizotinib | Chemotherapy | Non-Small Cell Lung Cancer | CYP3A | Moderate Inhibitor | |
Darifenacin | Anticholinergics/Gu | Overactive Bladder | CYP2D6 | Genotype Impact | |
Donepezil | Anticholinesterases | Overactive Bladder | CYP2D6 | Genotype Impact | |
Fesoterodine | Anticholinergics/Gu | Overactive Bladder | CYP2D6 | Genotype Impact | |
Galantamine | Anticholinesterases | Overactive Bladder | CYP2D6 | Genotype Impact | |
Mirabegron | Overactive Bladder | Overactive Bladder | CYP2D6 | Genotype Impact, Moderate Inhibitor | |
Tolterodine | Anticholinergics/Gu | Overactive Bladder | CYP2D6 | Genotype Impact | |
Celecoxib | Nsaids | Pain | CYP2C9 | Genotype Impact | |
Diclofenac | Nsaids | Pain | CYP2C9 | Genotype Impact | |
Flurbiprofen | Nsaids | Pain | CYP2C9 | Genotype Impact | |
Hydrocodone | Opioid Analgesic | Pain | CYP2D6 | Genotype Impact | |
Ibuprofen | Nsaids | Pain | CYP2C9 | Genotype Impact | |
Indomethacin | Nsaids | Pain | CYP2C9 | Genotype Impact | |
Mefenamic Acid | Nsaids | Pain | CYP2C9 | Genotype Impact | |
Meloxicam | Nsaids | Pain | CYP2C9 | Genotype Impact | |
Methadone | Opoid Analgesics | Pain | CYP2B6 | Genotype Impact | |
Morphine | Opoid Analgesics | Pain | OPRM1, COMT | Genotype Impact | |
Oxycodone | Opioid Analgesic | Pain | CYP2D6 | Genotype Impact | |
Piroxicam | Nsaids | Pain | CYP2C9 | Genotype Impact | |
Tramadol | Opioid Analgesic | Pain | CYP2D6 | Genotype Impact | |
Codeine | Narcotic | Pain, Cough | CYP2D6, OPRM1 | Genotype Impact | |
Tacrolimus | Immunosuppressive | Prevent Organ Rejection Post-Transplant | CYP3A5 | Genotype Impact | |
Cyclosporin | Immunosupressive | Prevent Organ Rejection Post-Transplant, Rheumatoid Arthritis, Psoriasis, Chronic Dry Eye | CYP3A | Moderate Inhibitor | |
Clopidogrel | Antiplatelet Drug (Blood Thinner) | Prevention Of Stroke, Heart Attack | CYP2C19 | Genotype Impact | |
Ticlopidine | Antiplatelet Drug (Blood Thinner) | Prevention Of Stroke, Heart Attack | CYP2C19 | Strong Inhibitor | |
Abiraterone | Chemotherapy | Prostate Cancer | CYP2D6 | Moderate Inhibitor | |
Enzalutamide | Nonsteroidal Antiandrogen | Prostate Cancer | CYP2C9, CYP2C19, CYP3A | Inducer | |
Bosentan | Dual Endothelin Receptor Antagonist | Pulmonary Artery Hypertension | CYP3A | Inducer | |
Naltrexone | Alcohol/Drug Dependence | Relapse Prevention | OPRM1 | Genotype Impact | |
Clozapine | Antipsychotic | Schizophrenia | CYP1A2 | Genotype Impact | |
Iloperidone | Antipsychotic | Schizophrenia | CYP2D6 | Genotype Impact | |
Thioridazine | Antipsychotic | Schizophrenia | CYP2D6 | Genotype Impact | |
Perphenazine | Antipsychotic | Schizophrenia, Nausea/Vomiting | CYP2D6 | Genotype Impact | |
Zuclopenthixol | Antipsychotic | Schizophrenia, Psychoses | CYP2D6 | Genotype Impact | |
Brivaracetam | Antiepileptic/Anticonvulsant | Seizures/Epilepsy | CYP2C19 | Genotype Impact | |
Carbamazepine | Antiepileptic/Anticonvulsant | Seizures/Epilepsy | CYP2C9, CYP2C19, CYP3A, CYP2B6 | Inducer | |
Clobazam | Benzodiazepine | Seizures/Epilepsy | CYP2C19 | Genotype Impact | |
Lacosamide | Antiepileptic/Anticonvulsant | Seizures/Epilepsy | CYP2C19 | Genotype Impact | |
Phenobarbitone / Phenobarbital | Antiepileptic/Anticonvulsant | Seizures/Epilepsy | CYP1A2, CYP2C9, CYP3A | Inducer | |
Phenytoin | Antiepileptic/Anticonvulsant | Seizures/Epilepsy | CYP2C9 / CYP1A2, CYP3A | Genotype Impact, Inducer / Inducer | |
Primidone | Antiepileptic/Anticonvulsant | Seizures/Epilepsy | CYP1A2, CYP2C9, CYP3A | Inducer | |
Diazepam | Benzodiazepine | Seizures/Epilepsy, Anxiety, Muscle Spasms | CYP2C19 | Genotype Impact | |
Dapoxetine | Sexual Dysfunction | Sexual Dysfunction | CYP2D6 | Genotype Impact | |
Flibanserin | Sexual Dysfunction | Sexual Dysfunction | CYP2C19 | Genotype Impact | |
Pimozide | Antipsychotic | Symptoms Of Tourette Syndrome | CYP2D6 | Genotype Impact | |
Valbenazine | Neurological Drugs | Tardive Dyskinesia | CYP2D6 | Genotype Impact | |
Rifampicin | Antibiotic | Tuberculosis | CYP1A2, CYP2C9, CYP2C19, CYP3A, CYP2B6 | Inducer | |
Rifabutin | Antibiotic | Tuberculosis And Mycobacterium Avium Complex Prevention | CYP2C9, CYP2C19, CYP3A | Inducer | |
Glibenclamide | Antidiabetic | Type 2 Diabetes | CYP2C9 | Genotype Impact | |
Gliclazide | Antidiabetic | Type 2 Diabetes | CYP2C9, CYP2C19 | Genotype Impact | |
Glimepiride | Antidiabetic | Type 2 Diabetes | CYP2C9 | Genotype Impact | |
Glipizide | Antidiabetic | Type 2 Diabetes | CYP2C9 | Genotype Impact | |
Glyburide | Antidiabetic | Type 2 Diabetes | CYP2C9 | Genotype Impact |
AD = autosomal dominant
AR = autosomal recessive
XL = X-linked
IEM = inborn error of metabolism
MCA = multiple congenital anomaly syndrome