Pharmacogenomics Knowledge Base (Stanford University), PharmGKB
General information
Pharmacogenomics Knowledge Base, PharmGKB
Stanford University
Stanford
California
United States - 94305-4125
https://www.pharmgkb.org
Organization ID: 500295
Stanford University
Stanford
California
United States - 94305-4125
https://www.pharmgkb.org
Organization ID: 500295
Expert panel documentation
Personnel
- Ryan Whaley, Informatics staff
Phone: 650-723-2956
Email: feedback@pharmgkb.org - Mark Woon, Informatics staff
Phone: 650-723-2956
Email: markwoon@pharmgkb.org
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 445
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCG2 | 2 | Nov 18, 2021 |
| ACE | 1 | Nov 18, 2021 |
| ADD1 | 1 | Nov 18, 2021 |
| ADRB2 | 1 | Nov 18, 2021 |
| ALDH2 | 1 | Nov 18, 2021 |
| APOE | 1 | Nov 18, 2021 |
| ATIC | 1 | Nov 18, 2021 |
| CACNA1S | 14 | May 1, 2023 |
| CES1 | 2 | Nov 18, 2021 |
| CFTR | 34 | May 1, 2023 |
| CFTR-AS1 | 3 | Nov 18, 2021 |
| CFTR-AS2 | 12 | May 1, 2023 |
| CHRNA5 | 1 | Nov 18, 2021 |
| CYP2B6 | 4 | Nov 18, 2021 |
| CYP2C19 | 1 | Nov 18, 2021 |
| CYP3A4 | 3 | May 1, 2023 |
| CYP4F2 | 2 | Nov 18, 2021 |
| DPYD | 42 | Oct 31, 2023 |
| DPYD-AS1 | 4 | Nov 18, 2021 |
| EGFR | 3 | Nov 18, 2021 |
| EGFR-AS1 | 2 | Nov 18, 2021 |
| EPAS1 | 1 | May 1, 2023 |
| F5 | 1 | May 1, 2023 |
| IFNL3 | 8 | Nov 18, 2021 |
| IFNL4 | 3 | Nov 18, 2021 |
| ITPA | 2 | Nov 18, 2021 |
| KIF6 | 1 | Nov 18, 2021 |
| LOC110366355 | 2 | May 1, 2023 |
| LOC111674472 | 6 | Nov 18, 2021 |
| LOC111674475 | 5 | Nov 18, 2021 |
| LOC113664106 | 1 | Nov 18, 2021 |
| LOC129994952 | 1 | Nov 18, 2021 |
| MT-ND1 | 6 | Nov 18, 2021 |
| MT-RNR1 | 15 | Nov 18, 2021 |
| MT-TS1 | 5 | Nov 18, 2021 |
| MTHFR | 1 | Nov 18, 2021 |
| NUDT15 | 2 | Nov 18, 2021 |
| RYR1 | 266 | Oct 31, 2023 |
| SCN1A | 1 | Nov 18, 2021 |
| SLC19A1 | 1 | Nov 18, 2021 |
| SLCO1B1 | 15 | Oct 31, 2023 |
| TNF | 1 | Nov 18, 2021 |
| UGT1A | 1 | Nov 18, 2021 |
| UGT1A1 | 1 | Nov 18, 2021 |
| UGT1A10 | 1 | Nov 18, 2021 |
| UGT1A3 | 1 | Nov 18, 2021 |
| UGT1A4 | 1 | Nov 18, 2021 |
| UGT1A5 | 1 | Nov 18, 2021 |
| UGT1A6 | 1 | Nov 18, 2021 |
| UGT1A7 | 1 | Nov 18, 2021 |
| UGT1A8 | 1 | Nov 18, 2021 |
| UGT1A9 | 1 | Nov 18, 2021 |
| VKORC1 | 14 | May 1, 2023 |
| XRCC1 | 1 | Nov 18, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Platinum compounds response - Efficacy | 1 | Nov 18, 2021 |
| acenocoumarol response - Dosage | 3 | May 1, 2023 |
| amikacin response - Toxicity | 1 | Nov 18, 2021 |
| aminoglycoside antibacterials response - Toxicity | 3 | Nov 18, 2021 |
| atorvastatin response - Efficacy | 1 | Nov 18, 2021 |
| atorvastatin response - Metabolism/PK | 1 | Oct 31, 2023 |
| atorvastatin response - Toxicity | 1 | Nov 18, 2021 |
| azathioprine response - Toxicity | 1 | Nov 18, 2021 |
| boceprevir, peginterferon alfa-2a, peginterferon alfa-2b and ribavirin response - Efficacy | 1 | Nov 18, 2021 |
| capecitabine response - Toxicity | 11 | Oct 31, 2023 |
| captopril response - Efficacy | 1 | Nov 18, 2021 |
| carbamazepine response - Dosage | 1 | Nov 18, 2021 |
| clopidogrel response - Efficacy | 1 | Nov 18, 2021 |
| clopidogrel response - Metabolism/PK | 1 | Nov 18, 2021 |
| desflurane response - Toxicity | 40 | Oct 31, 2023 |
| efavirenz response - Metabolism/PK | 1 | Nov 18, 2021 |
| efavirenz response - Toxicity | 1 | Nov 18, 2021 |
| enflurane response - Toxicity | 40 | Oct 31, 2023 |
| erlotinib response - Efficacy | 1 | Nov 18, 2021 |
| etanercept response - Efficacy | 1 | Nov 18, 2021 |
| ethanol response - Toxicity | 1 | Nov 18, 2021 |
| fentanyl response - Dosage | 1 | May 1, 2023 |
| fluorouracil response - Other | 14 | Oct 31, 2023 |
| fluorouracil response - Toxicity | 14 | Oct 31, 2023 |
| fluvastatin response - Metabolism/PK | 1 | May 1, 2023 |
| fluvastatin response - Toxicity | 1 | May 1, 2023 |
| gefitinib response - Efficacy | 2 | Nov 18, 2021 |
| gentamicin response - Toxicity | 3 | Nov 18, 2021 |
| halothane response - Toxicity | 40 | Oct 31, 2023 |
| hmg coa reductase inhibitors response - Toxicity | 1 | Nov 18, 2021 |
| hormonal contraceptives for systemic use response - Toxicity | 1 | May 1, 2023 |
| hydrochlorothiazide response - Efficacy | 1 | Nov 18, 2021 |
| interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy | 1 | Nov 18, 2021 |
| irinotecan response - Toxicity | 1 | Nov 18, 2021 |
| isoflurane response - Toxicity | 40 | Oct 31, 2023 |
| ivacaftor / lumacaftor response - Efficacy | 1 | Nov 18, 2021 |
| ivacaftor / tezacaftor response - Efficacy | 1 | Nov 18, 2021 |
| ivacaftor response - Efficacy | 32 | May 1, 2023 |
| kanamycin response - Toxicity | 3 | Nov 18, 2021 |
| lovastatin acid response - Metabolism/PK | 1 | May 1, 2023 |
| lovastatin response - Metabolism/PK | 1 | May 1, 2023 |
| lovastatin response - Toxicity | 1 | May 1, 2023 |
| mercaptopurine response - Dosage | 1 | Nov 18, 2021 |
| methotrexate response - Efficacy | 2 | Nov 18, 2021 |
| methotrexate response - Toxicity | 1 | Nov 18, 2021 |
| methoxyflurane response - Toxicity | 40 | Oct 31, 2023 |
| nevirapine response - Metabolism/PK | 1 | Nov 18, 2021 |
| nevirapine response - Toxicity | 1 | Nov 18, 2021 |
| nicotine response - Toxicity | 1 | Nov 18, 2021 |
| peginterferon alfa-2a response - Efficacy | 1 | Nov 18, 2021 |
| peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy | 1 | Nov 18, 2021 |
| peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy | 2 | Nov 18, 2021 |
| peginterferon alfa-2b and ribavirin response - Toxicity | 2 | Nov 18, 2021 |
| peginterferon alfa-2b response - Efficacy | 1 | Nov 18, 2021 |
| phenprocoumon response - Dosage | 2 | Nov 18, 2021 |
| phenprocoumon response - Toxicity | 1 | Nov 18, 2021 |
| pitavastatin response - Metabolism/PK | 1 | May 1, 2023 |
| pravastatin response - Efficacy | 1 | Nov 18, 2021 |
| pravastatin response - Toxicity | 1 | May 1, 2023 |
| ribavirin response - Efficacy | 1 | Nov 18, 2021 |
| rosuvastatin response - Efficacy | 1 | Nov 18, 2021 |
| rosuvastatin response - Metabolism/PK | 2 | Nov 18, 2021 |
| rosuvastatin response - Toxicity | 1 | May 1, 2023 |
| salmeterol response - Efficacy | 1 | Nov 18, 2021 |
| sevoflurane response - Toxicity | 40 | Oct 31, 2023 |
| simvastatin acid response - Metabolism/PK | 1 | Nov 18, 2021 |
| simvastatin response - Metabolism/PK | 1 | May 1, 2023 |
| simvastatin response - Toxicity | 1 | Nov 18, 2021 |
| sorafenib response - Toxicity | 1 | May 1, 2023 |
| streptomycin response - Toxicity | 3 | Nov 18, 2021 |
| succinylcholine response - Toxicity | 40 | Oct 31, 2023 |
| tacrolimus response - Metabolism/PK | 2 | May 1, 2023 |
| tegafur response - Toxicity | 3 | Nov 18, 2021 |
| tobramycin response - Toxicity | 2 | Nov 18, 2021 |
| warfarin response - Dosage | 9 | May 1, 2023 |
| warfarin response - Efficacy | 1 | May 1, 2023 |
| warfarin response - Toxicity | 1 | Nov 18, 2021 |