The Pharmacogenomics Knowledge Base [PharmGKB]

Our Mission: To collect, encode, and disseminate knowledge about the impact of human genetic variations on drug response. We curate primary genotype and phenotype data, annotate gene variants and gene-drug-disease relationships via literature review, and summarize important PGx genes and drug pathways.

You can find what you're looking for by browsing or searching the four major data types we store. If you need a pointer, check out our tutorial. You can also do a general search in the search box at the top of the page.

Genes

Variants

Pathways

Drugs & Small Molecules

Diseases

Opportunities to Contribute:

Seeking Input on PGx Drug Relabeling Opportunities

Curators' Favorite Papers

The temporal relationship between ABCB1 promoter hypomethylation, ABCB1 expression and acquisition of drug resistance FA

Pharmacogenetics of chronic obstructive pulmonary disease: challenges and opportunities CO GN

Functional polymorphisms and methotrexate treatment outcome in recent-onset rheumatoid arthritis CO GN

Updated 3/8/10.
See the archives for more.

PGx in the News

Running Total: Impact of the Stimulus Bill at USC - Stimulus-Funded Research at USC (blog)

AMA's Molecular Pathology Workgroup Quietly Working on New CPT Coding System for Molecular Dxs

US FDA advisory meetings through May 12 - Reuters

New Releases

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Example Searches for Genes

1. Search by gene symbol:

This will take you to the CYP2C9 gene page because there's one exact match.

2. Search by drug:

This will return a list of genes associated with warfarin.

3. Search by disease:

This will return a list of genes associated with myocardial infarction.

4. Search by drug/disease combination:

This will return list of genes associated with both simvastatin AND myopathy.

5. Search by Entrez Gene ID:

This will return a gene with Entrez Gene ID 3949.

6. Search by PubMed ID:

This will return a list of genes linked to PubMed ID 19106083.

7. Search by protein name:

This will return a list of genes containing "glucocorticoid receptor" in their names".

Example Searches for Variants

1. Search by gene symbol:

This will return a list of variants associated with CYP2C9.

2. Search by drug:

This will return a list of variants associated with warfarin.

3. Search by disease:

This will return a list of variants associated with myocardial infarction.

4. Search by gene/drug/disease combination:

This will return list of variants associated with both clopidogrel AND CYP2C19.

5. Search by dbSNP reference ID:

This will take you to the variant page for rs1045642.

6. Search by nucleotide or amino acid change in variant common name:

This will return variants with "G3673A".

7. Search by named alleles (please use “\” in front of “*” ):

This will return a list of variants for CYP2C9*3.

8. Search by PubMed ID:

This will return a list of variants linked to PubMed ID 19106083.

Example Searches for Pathways

1. Search by gene symbol:

This will return a list of pathways associated with CYP2C9.

2. Search by drug:

This will return a list of pathways associated with warfarin.

3. Search by disease:

This will return a list of pathways associated with asthma.

4. Search by therapeutic category:

This will return list of pathways associated with Nervous System.

Example Searches for Drugs

1. Search by drug's generic or trade name:

This will take you to the imatinib drug page because there's one exact match (Gleevec is a trade name for imatinib).

2. Search by gene symbol:

This will return a list of drugs associated with CYP2C9.

3. Search by disease:

This will return a list of drugs associated with asthma.

4. Search by gene/disease combination:

This will return list of drugs associated with both UGT1A1 AND colonic neoplasm.

5. Search by DrugBank ID: DB00619:

This will return drug with DrugBank ID: DB00619.

6. Search by PubMed ID:

This will return a list of drugs linked to PubMed ID 19106083.

Example Searches for Diseases

1. Search by disease name:

This will take you to the hypertension disease page because there's one exact match.

2. Search by gene symbol:

This will return a list of diseases associated with TPMT gene.

3. Search by variant name:

This will return a list of diseases associated with variant rs1801133 or 677T>C.

4. Search by drug name:

This will return a list of diseases associated with drug pravastatin.

5. Search by gene/drug combination:

This will return list of diseases associated with both SLCO1B1 AND pravastatin.

6. Search by PubMed ID:

This will return a list of diseases linked to PubMed ID 19106083.

7. Search by SnoMed Clinical Terminology ID:

This will return disease “Breast Neoplasms“ with SnoMed Clinical Terminology ID: 126926005.

8. Search by Unified Medical Language System ID:

This will return disease “Hypertension” with Unified Medical Language System ID: C0020538.

9. Search by MeSH ID:

This will return disease “Hypertension” with MeSH ID: D006973.

The PharmGKB is financially supported by the NIH/ NIGMS and is managed at Stanford University (U01GM61374).
©2001-2010 PharmGKB.

Genes

Variants

Pathways

Drugs & Small Molecules

Diseases

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