PhenCode: Paving the Path between Phenotype and Genome

PhenCode is a collaborative project to better understand the relationship between genotype and phenotype in humans. It connects human phenotype and clinical data in various locus-specific mutation databases (LSDBs) with data on genome sequences, evolutionary history, and function in the UCSC Genome Browser. PhenCode is a collaboration among researchers at Penn State, UC Santa Cruz, and locus experts at other institutions.

Terms and conditions of use

Information for users:


  LSDB variants Swiss-Prot variants HGMD*
variants 34,213 56,396 76,011
genes 1,386 11,343 2,876
average variants per gene 25 5 26

*Note the HGMD variants are not included in PhenCode but are listed here for comparison.

Additional information for database curators:

Publications and Presentations:

References for citation:

Additional reports:

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