Phencode

PhenCode: 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. 

http://globin.bx.psu.edu/phencode/