TY - JOUR
T1 - Gene ORGANizer
T2 - Linking genes to the organs they affect
AU - Gokhman, David
AU - Kelman, Guy
AU - Amartely, Adir
AU - Gershon, Guy
AU - Tsur, Shira
AU - Carmel, Liran
N1 - Publisher Copyright:
© The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.
PY - 2017/7/3
Y1 - 2017/7/3
N2 - One of the biggest challenges in studying how genes work is understanding their effect on the physiology and anatomy of the body. Existing tools try to address this using indirect features, such as expression levels and biochemical pathways. Here, we present Gene ORGANizer (geneorganizer.huji.ac.il), a phenotype-based tool that directly links human genes to the body parts they affect. It is built upon an exhaustive curated database that links >7000 genes to â 1/4150 anatomical parts using >150 000 gene-organ associations. The tool offers user-friendly platforms to analyze the anatomical effects of individual genes, and identify trends within groups of genes. We demonstrate how Gene ORGANizer can be used to make new discoveries, showing that chromosome X is enriched with genes affecting facial features, that positive selection targets genes with more constrained phenotypic effects, and more. We expect Gene ORGANizer to be useful in a variety of evolutionary, medical and molecular studies aimed at understanding the phenotypic effects of genes.
AB - One of the biggest challenges in studying how genes work is understanding their effect on the physiology and anatomy of the body. Existing tools try to address this using indirect features, such as expression levels and biochemical pathways. Here, we present Gene ORGANizer (geneorganizer.huji.ac.il), a phenotype-based tool that directly links human genes to the body parts they affect. It is built upon an exhaustive curated database that links >7000 genes to â 1/4150 anatomical parts using >150 000 gene-organ associations. The tool offers user-friendly platforms to analyze the anatomical effects of individual genes, and identify trends within groups of genes. We demonstrate how Gene ORGANizer can be used to make new discoveries, showing that chromosome X is enriched with genes affecting facial features, that positive selection targets genes with more constrained phenotypic effects, and more. We expect Gene ORGANizer to be useful in a variety of evolutionary, medical and molecular studies aimed at understanding the phenotypic effects of genes.
UR - http://www.scopus.com/inward/record.url?scp=85023173863&partnerID=8YFLogxK
U2 - 10.1093/nar/gkx302
DO - 10.1093/nar/gkx302
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C2 - 28444223
AN - SCOPUS:85023173863
SN - 0305-1048
VL - 45
SP - W138-W145
JO - Nucleic Acids Research
JF - Nucleic Acids Research
IS - W1
ER -