PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation
The database of genetic modifiers

This database contains human genetic modifiers, manually curated from scientific literature.


A modifier gene is a gene in which genetic variation alters expression of a gene at another locus that in turn causes a genetic disease. The phenotypic effects of modifiers include penetrance, expressivity, dominance, and pleiotropy. Evidence for modifier genes is extensive, both in humans and model organisms, and their effects on the phenotypic presentation of disease causing variants can be subtle or profound. Assessment of a broader spectrum of genetic contribution to risk, including not only disease causing variants but also modifier genes and protective alleles, could improve the prediction, treatment and perhaps even the prevention of human diseases.

The PhenoModifier database is an attempt at collecting information that are scattered throughout the literature to characterize human modifiers, and this in turn will help us elucidating the genetic basis of human phenotypic variation.

Database scope

The database can be searched either by human gene name, by variant or by disease name. Summary overviews for each searching include modifier information, the modifier variants, as well as the influence of the modifier variant, e.g. the target disease or phenotype, modifier effects, etc. Searching for a modifier gene also returns its potential interacting partners, which is inferred from the human homolog to the yeast genes that were experimentally verified.

The PhenoModifier has a broad scientific and clinical scope, spanning activities relevant to variant interpretation for research purposes as well as for clinical decision making.

Contact us

For questions, problems, comments on the Database, please E-mail us.

Copyright © Shanghai Children's Hospital, Shanghai Jiao Tong University

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