Data Attribution

Data updated daily displayed on this site includes information from the following external sources:

CPIC and PharmGKB

Curated pharmacogenomic information is provided by CPIC and PharmGKB.  Learn more about the relationship between ClinGen, CPIC, and PharmGKB here.

DECIPHER

Predictions of haploinsufficiency, specifically the haploinsufficiency index (%HI), are obtained from DECIPHER.  The methods for generating %HI are described in Huang et al. 2010 (PMID: 20976243).
Funding for the DECIPHER project was provided by Wellcome, and the project is further described in the following publication:DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth, H.V. et al., 2009. Am.J.Hum.Genet 84, 524-533 (DOI: dx.doi.org/10/1016/j.ajhg.2009.03.010)

gnomAD

Predictions of haploinsufficiency, specifically the probability of loss intolerance (pLI) and the loss-of-function observed/expected upper bound fraction (LOEUF), are obtained from gnomAD (gnomad.broadinstitute.org).

HUGO Gene Nomenclature Committee (HGNC)

All gene symbols and names are derived from the HUGO Gene Nomenclature Committee (HGNC) at the European Bioinformatics Institute (https://www.genenames.org/).

Mondo Disease Ontology (MONDO)

Disease terms utilize Mondo Disease Ontology (MONDO) (https://mondo.monarchinitiative.org/)

Mungall, Christopher J., et al. 2017 The Monarch Initiative: An Integrative Data and Analytic Platform Connecting Phenotypes to Genotypes across Species. Nucleic Acids Research 45 (D1): D712–22."  https://mondo.monarchinitiative.org/pages/faq/

Matched Annotation from NCBI and EMBL-EBI (MANE)

Transcript information as displayed in the "Gene Facts" area on individual gene pages represents the MANE Select transcript (and any applicable MANE Plus Clinical transcript(s)) designated as the result of a collaboration between NCBI and EMBL-EBI to identify a minimal set of matching RefSeq and Ensembl transcripts of human protein-coding genes.  Learn more about the MANE project here.

NCBI

Genome browser views are supported by NCBI.

Online Mendelian Inheritance in Man® (OMIM®)

This website contains information obtained from the Online Mendelian Inheritance in Man® 

The OMIM® database, which has been obtained through a license from the Johns Hopkins University, owns the copyright thereto. This website does not represent the entire, unmodified OMIM® database, which is available in its entirety at http://omim.org/downloads.

Uniprot

Gene function descriptions as displayed in the “Gene Facts” area on each individual gene page are obtained from Uniprot (https://www.uniprot.org/) (https://doi.org/10.1093/nar/gky1049)