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. 2016 Aug 29;32(17):i611–i619. doi: 10.1093/bioinformatics/btw429

Table 2.

Gene sets found to be highly associated with liver enzymes in KARE (P < 1E-03)

Phenotype Gene-set KARE results
Maximum MAF minimum MAC P-value
GS. QTest1 GS. QTest2 GS. QTest3 GS. SKAT GS. SKATO
ALT PID_AURORA_A_PATHWAY 0.05 2 5.0E-04 (4.2E-04)* 1.2E-01 (1.5E-01) 1.2E-03 (1.2E-03) 1.8E-01 (1.9E-01) 5.9E-03 (6.2E-03)
BIOCARTA_RELA_PATHWAY 0.05 2 8.4E-04 (8.7E-04) 2.2E-02 (2.7E-02) 2.0E-03 (2.3E-03) 2.4E-01 (2.2E-01) 8.2E-02 (8.1E-02)
KEGG_FOLATE_BIOSYNTHESIS all 2 4.6E-02 (4.5E-02) 7.7E-04 (7.9E-04) 2.7E-03 (2.8E-03) 6.9E-01 (6.8E-01) 7.0E-01 (6.8E-01)
AST REACTOME_SIGNALING_BY_NODAL 0.05 2 9.9E-01 (9.9E-01) 4.2E-05 (4.1E-05) 3.4E-05 (3.4E-05) 1.1E-03 (9.8E-04) 2.3E-03 (2.2E-02)
REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTERGRINS 0.05 2 4.7E-04 (4.5E-04) 4.3E-02 (4.3E-02) 1.1E-03 (1.0E-03) 1.3E-01 (1.4E-01). 1.1E-02 (1.3E-02)
REACTOME_CHEMOKINE_RECEPTORS_BIND_CHEMOKINES 0.05 2 7.5E-01 (7.5E-01) 7.5E-04 (7.8E-04) 1.2E-03 (1.3E-03) 9.3E-03 (9.5E-03) 1.9E-02 (1.8E-02)
PID_RETINOIC_ACID_PATHWAY all 2 9.7E-01 (9.6E-01) 9.6E-04 (9.3E-04) 1.2E-03 (1.0E-03) 4.1E-02 (4.3E-01) 8.3E-02 (8.3E-02)
GGT PID_ARF6_PATHWAY 0.05 2 4.3E-04 (4.2E-04) 6.9E-02 (6.9E-02) 1.1E-04 (9.9E-05) 1.5E-01 (1.7E-01) 2.4E-03 (2.4E-03)
KEGG_BETA_ALANINE_METABOLISM all 2 2.1E-01 (1.9E-01) 4.7E-06 (5.1E-06) 1.1E-05 (1.3E-05) 7.8E-02 (7.8E-02) 8.6E-02 (8.6E-02)
KEGG_LYSINE_DEGRADATION all 2 4.0E-02 (4.5E-02) 4.5E-06 (4.7E-06) 1.9E-05 (2.0E-05) 3.0E-03 (2.8E-03) 2.0E-03 (2.0E-03)
KEGG_BUTANOATE_METABOLISM all 2 1.6E-01 (1.6E-01) 6.8E-05 (6.6E-05) 2.1E-04 (2.0E-04) 3.8E-02 (3.7E-02) 6.5E-02 (6.3E-02)
REACTOME_ETHANOL_OXIDATION all 2 5.0E-04 (5.3E-04) 6.1E-05 (6.1E-05) 2.5E-04 (2.6E-04) 1.7E-07 (1.6E-07) 2.9E-07 (3.1E-07)
KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_DEGRADATION all 2 2.4E-01 (2.7E-01) 8.5E-05 (8.3E-05) 1.0E-03 (1.1E-03) 8.8E-02 (8.6E-02) 1.6E-01 (1.6E-01)
REACTOME_IL_6_SIGNALING all 2 2.4E-04 (2.3E-04) 1.8E-03 (1.8E-03) 5.6E-04 (5.9E-04) 4.1E-03 (4.5E-03) 1.8E-03 (1.9E-03)

*Permutation P-values are given in parentheses.