PharmCAT Genes & Drugs

Genes

The following tables list genes used by PharmCAT to find drug recommendation, along with the sources that use the gene.

Genes PharmCAT will attempt to match

The Named Allele Matcher will search the given sample file for locations associated with these genes and attempt to match them to known allele definitions.

Gene CPIC DPWG
ABCG2 :heavy_check_mark: :heavy_check_mark:
CACNA1S :heavy_check_mark:  
CFTR :heavy_check_mark:  
CYP2B6 :heavy_check_mark: :heavy_check_mark:
CYP2C19 :heavy_check_mark: :heavy_check_mark:
CYP2C9 :heavy_check_mark: :heavy_check_mark:
CYP3A4   :heavy_check_mark:
CYP3A5 :heavy_check_mark: :heavy_check_mark:
CYP4F2 :heavy_check_mark:  
DPYD :heavy_check_mark: :heavy_check_mark:
G6PD :heavy_check_mark:  
IFNL3 :heavy_check_mark:  
NUDT15 :heavy_check_mark: :heavy_check_mark:
RYR1 :heavy_check_mark:  
SLCO1B1 :heavy_check_mark: :heavy_check_mark:
TPMT :heavy_check_mark: :heavy_check_mark:
UGT1A1 :heavy_check_mark: :heavy_check_mark:
VKORC1 :heavy_check_mark: :heavy_check_mark:

Genes handled by outside callers

These genes will not get allele matches from PharmCAT*. However, you can use an outside caller like Stargazer or StellarPGx to get CYP2D6 diplotype calls, or Optitype to get HLA calls, and then supply that to PharmCAT for use in matching recommendation data.

See Outside Call Format for formatting details and Calling CYP2D6 or Calling HLA for how to obtain CYP2D6 or HLA calls, respectively, using sequencing data.

Gene CPIC DPWG
CYP2D6 :heavy_check_mark: :heavy_check_mark:
HLA-A :heavy_check_mark: :heavy_check_mark:
HLA-B :heavy_check_mark: :heavy_check_mark:
MT-RNR1 :heavy_check_mark:  

* Except for CYP2D6 if the requisite research mode is enabled.

Drugs

The following table lists the 183 drugs for which PharmCAT has recommendations for, along with their sources.

Drug CPIC DPWG FDA Label FDA PGx Assoc
Ascorbic acid (vitamin C), combinations     :heavy_check_mark:  
Ascorbic acid (vitamin C), plain     :heavy_check_mark:  
abacavir :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
abrocitinib     :heavy_check_mark: :heavy_check_mark:
acenocoumarol   :heavy_check_mark:    
acetaminophen / caffeine / dihydrocodeine     :heavy_check_mark:  
allopurinol :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
amikacin :heavy_check_mark:   :heavy_check_mark:  
amitriptyline :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
amoxapine       :heavy_check_mark:
amphetamine       :heavy_check_mark:
aripiprazole   :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
aripiprazole lauroxil     :heavy_check_mark: :heavy_check_mark:
articaine / epinephrine     :heavy_check_mark:  
atazanavir :heavy_check_mark:      
atomoxetine :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
atorvastatin :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
avatrombopag       :heavy_check_mark:
azathioprine :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
belinostat     :heavy_check_mark: :heavy_check_mark:
belzutifan     :heavy_check_mark: :heavy_check_mark:
brexpiprazole   :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
brivaracetam     :heavy_check_mark: :heavy_check_mark:
bupivacaine     :heavy_check_mark:  
capecitabine :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
carbamazepine :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
carisoprodol     :heavy_check_mark: :heavy_check_mark:
carvedilol       :heavy_check_mark:
celecoxib :heavy_check_mark:   :heavy_check_mark: :heavy_check_mark:
cevimeline     :heavy_check_mark: :heavy_check_mark:
chloroquine     :heavy_check_mark:  
chlorpropamide     :heavy_check_mark:  
citalopram :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
clobazam     :heavy_check_mark: :heavy_check_mark:
clomipramine :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
clopidogrel :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
clozapine     :heavy_check_mark: :heavy_check_mark:
codeine :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
dabrafenib     :heavy_check_mark:  
dapsone :heavy_check_mark:      
darifenacin       :heavy_check_mark:
desflurane :heavy_check_mark:   :heavy_check_mark:  
desipramine :heavy_check_mark:     :heavy_check_mark:
deutetrabenazine     :heavy_check_mark: :heavy_check_mark:
dexlansoprazole :heavy_check_mark:     :heavy_check_mark:
dextromethorphan / quinidine     :heavy_check_mark:  
dextromethorphan hydrobromide / bupropion hydrochloride     :heavy_check_mark:  
diazepam       :heavy_check_mark:
dibekacin :heavy_check_mark:      
dolutegravir       :heavy_check_mark:
donepezil       :heavy_check_mark:
doxepin :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
dronabinol     :heavy_check_mark: :heavy_check_mark:
efavirenz :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
elagolix       :heavy_check_mark:
eliglustat   :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
enflurane :heavy_check_mark:      
erdafitinib     :heavy_check_mark: :heavy_check_mark:
escitalopram :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
esomeprazole       :heavy_check_mark:
fesoterodine       :heavy_check_mark:
flecainide   :heavy_check_mark:    
flibanserin     :heavy_check_mark: :heavy_check_mark:
flucloxacillin   :heavy_check_mark:    
flucytosine   :heavy_check_mark:    
fluorouracil :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
fluoxetine     :heavy_check_mark:  
flurbiprofen :heavy_check_mark:   :heavy_check_mark: :heavy_check_mark:
flutamide     :heavy_check_mark:  
fluvastatin :heavy_check_mark:      
fluvoxamine :heavy_check_mark:   :heavy_check_mark: :heavy_check_mark:
fosphenytoin :heavy_check_mark:   :heavy_check_mark: :heavy_check_mark:
galantamine       :heavy_check_mark:
gefitinib     :heavy_check_mark: :heavy_check_mark:
gentamicin :heavy_check_mark:   :heavy_check_mark:  
glimepiride     :heavy_check_mark:  
glipizide     :heavy_check_mark:  
glyburide     :heavy_check_mark:  
haloperidol   :heavy_check_mark:    
halothane :heavy_check_mark:      
hydrocodone :heavy_check_mark:      
hydroxychloroquine     :heavy_check_mark:  
ibuprofen :heavy_check_mark:     :heavy_check_mark:
iloperidone     :heavy_check_mark: :heavy_check_mark:
imipramine :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
irinotecan   :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
isoflurane :heavy_check_mark:   :heavy_check_mark:  
ivacaftor :heavy_check_mark:   :heavy_check_mark:  
kanamycin :heavy_check_mark:      
lamotrigine   :heavy_check_mark:    
lansoprazole :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
lesinurad     :heavy_check_mark:  
lidocaine / prilocaine     :heavy_check_mark:  
lidocaine and tetracaine     :heavy_check_mark:  
lofexidine     :heavy_check_mark: :heavy_check_mark:
lornoxicam :heavy_check_mark:      
lovastatin :heavy_check_mark:      
mavacamten       :heavy_check_mark:
meclizine     :heavy_check_mark: :heavy_check_mark:
meloxicam :heavy_check_mark:   :heavy_check_mark: :heavy_check_mark:
mepivacaine     :heavy_check_mark:  
mercaptopurine :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
methoxyflurane :heavy_check_mark:      
methylene blue :heavy_check_mark:   :heavy_check_mark:  
metoclopramide     :heavy_check_mark: :heavy_check_mark:
metoprolol :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
mirabegron       :heavy_check_mark:
moviprep     :heavy_check_mark:  
nalidixic acid     :heavy_check_mark:  
nateglinide       :heavy_check_mark:
nebivolol       :heavy_check_mark:
neomycin :heavy_check_mark:      
netilmicin :heavy_check_mark:      
nilotinib       :heavy_check_mark:
nitrofurantoin :heavy_check_mark:   :heavy_check_mark:  
nortriptyline :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
oliceridine     :heavy_check_mark: :heavy_check_mark:
omeprazole :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
ondansetron :heavy_check_mark:      
oxcarbazepine :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
oxymetazoline and tetracaine     :heavy_check_mark:  
pantoprazole :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
paromomycin :heavy_check_mark:      
paroxetine :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
pazopanib       :heavy_check_mark:
peginterferon alfa-2a :heavy_check_mark:      
peginterferon alfa-2b :heavy_check_mark:      
pegloticase :heavy_check_mark:   :heavy_check_mark:  
perphenazine       :heavy_check_mark:
phenprocoumon   :heavy_check_mark:    
phenytoin :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
pimozide   :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
piroxicam :heavy_check_mark:   :heavy_check_mark: :heavy_check_mark:
pitavastatin :heavy_check_mark:      
pitolisant     :heavy_check_mark: :heavy_check_mark:
plazomicin :heavy_check_mark:   :heavy_check_mark:  
pravastatin :heavy_check_mark:      
primaquine :heavy_check_mark:   :heavy_check_mark:  
propafenone   :heavy_check_mark:   :heavy_check_mark:
propranolol       :heavy_check_mark:
protriptyline       :heavy_check_mark:
quetiapine   :heavy_check_mark:    
rabeprazole       :heavy_check_mark:
raltegravir       :heavy_check_mark:
rasburicase :heavy_check_mark:   :heavy_check_mark:  
ribavirin :heavy_check_mark:      
ribostamycin :heavy_check_mark:      
risperidone   :heavy_check_mark:   :heavy_check_mark:
rosuvastatin :heavy_check_mark:     :heavy_check_mark:
sacituzumab govitecan     :heavy_check_mark: :heavy_check_mark:
sertraline :heavy_check_mark: :heavy_check_mark:    
sevoflurane :heavy_check_mark:   :heavy_check_mark:  
simvastatin :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
siponimod   :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
sodium ascorbate     :heavy_check_mark:  
sodium nitrite     :heavy_check_mark:  
streptomycin :heavy_check_mark:   :heavy_check_mark:  
succinylcholine :heavy_check_mark:   :heavy_check_mark:  
sulfasalazine     :heavy_check_mark:  
tacrolimus :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
tafenoquine :heavy_check_mark:   :heavy_check_mark:  
tamoxifen :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
tamsulosin     :heavy_check_mark: :heavy_check_mark:
tegafur   :heavy_check_mark:    
tenoxicam :heavy_check_mark:      
tetrabenazine     :heavy_check_mark: :heavy_check_mark:
thioguanine :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
thioridazine     :heavy_check_mark: :heavy_check_mark:
tobramycin :heavy_check_mark:   :heavy_check_mark:  
tolazamide     :heavy_check_mark:  
tolbutamide     :heavy_check_mark:  
tolterodine       :heavy_check_mark:
toluidine blue :heavy_check_mark:      
tramadol :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
trimipramine :heavy_check_mark:     :heavy_check_mark:
tropisetron :heavy_check_mark:      
valbenazine     :heavy_check_mark: :heavy_check_mark:
venlafaxine :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
viloxazine       :heavy_check_mark:
voriconazole :heavy_check_mark: :heavy_check_mark:   :heavy_check_mark:
vortioxetine :heavy_check_mark:   :heavy_check_mark: :heavy_check_mark:
warfarin :heavy_check_mark: :heavy_check_mark: :heavy_check_mark: :heavy_check_mark:
zuclopenthixol   :heavy_check_mark:    

Table of contents

PharmCAT is managed at Stanford University & University of Pennsylvania (NHGRI U24HG013077).