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Table S1 Significantly enriched GO terms (Benjamini-corrected p-value <0.05) for human genes containing DMs identified as PCMs (listed in Table 4) against a background of known disease-causing genes. No significantly enriched GO terms were found to relate to biological processes or molecular function

From: Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

GO Term Category Description Fold
enrichment
p-Value Genes
GO:0031224 Cellular component Intrinsic to
membrane
2.12 4.29E-03 SLC5A1, DUOX2, CNGA3, ABCA4, SLC26A2, MFRP, ABCB4,
IL12RB2, SLC26A4, IL12RB1, CRB1, SLC17A3, PKP2, NPHS1,
RYR1, EXT1, SEZ6, ATP7B
GO:0016021 Cellular component Integral to membrane 2.21 4.59E-03 SLC5A1, DUOX2, CNGA3, ABCA4, SLC26A2, MFRP, ABCB4,
IL12RB2, SLC26A4, IL12RB1, CRB1, SLC17A3, PKP2, NPHS1,
RYR1, EXT1, SEZ6, ATP7B
GO:0005886 Cellular component Plasma membrane 2.17 5.49E-03 SLC5A1, DUOX2, ABCA4, SLC26A2, ABCB4, IL12RB2, SLC26A4,
IL12RB1, ANK1, CRB1, SLC17A3, F5, PKP2, NPHS1, RYR1, SEZ6,
ATP7B
GO:0031226 Cellular component Intrinsic to plasma
membrane
3.02 3.92E-02 IL12RB2, IL12RB1, SLC17A3, SLC5A1, NPHS1, RYR1, ABCA4,
SLC26A2, ATP7B, ABCB4
GO:0005887 Cellular component Integral to plasma
membrane
3.11 3.93E-02 IL12RB2, IL12RB1, SLC17A3, SLC5A1, NPHS1, RYR1, ABCA4,
SLC26A2, ATP7B, ABCB4