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Chunk #15 — Results — Examples of variant-phenome association

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Joint mouse-human phenome-wide association to test gene function and disease risk.
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Fh1 is also associated with two candidate phenotypes: (1) T-cell proliferation (GN ID 10237; q=2.6 × 10−5), linked previously to mitochondrial function20; and (2) dopamine metabolism after treatment with the mitochondrial toxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP, GN ID 15151; q=0.005). Both traits are linked to Fh1 along with the control of mitochondrial components of a UPRmt pathway (Fig. 3g). No extant human genotype data are yet available for FH—the homolog of Fh1.