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. 2012 Sep 7;91(3):455–465. doi: 10.1016/j.ajhg.2012.07.024

Table 2.

Disease-Associated Genes Are Enriched among Genes Whose Promoters Are Hypomethylated in the Human Brain but Hypermethylated in the Chimpanzee Brain

Category Count Fold Enrichment Genes
Neural-tube defects 5 4.7 PDGFRA (MIM 173490), SHMT1 (MIM 182144), TYMS (MIM 188350), DHFR (MIM 126060), CXCL6 (MIM 138965)
Autism 6 3.5 GABRA2 (MIM 137140), GSTM1 (MIM 138350), SLC6A4 (MIM 182138), ACCN1 (MIM 601784), CLOCK (MIM 601851), GABRG1 (MIM 137166)
Alcohol dependence 4 5.0 GABRA2 (MIM 137140), SLC6A4, GABRB1 (MIM 137190), GABRG1
Chemodependency 9 2.0 GABRA2, GSTM1, SLC6A4, GABRB1, CLOCK, SCN5A (MIM 600163), HOMER1 (MIM 604798), GABRG1, CRTC1 (MIM 607536)
Cancer 27 1.3 HPSE (MIM 604724), IRAK4 (MIM 606883), TES (MIM 606085), KIT (MIM 164920), RECQL (MIM 600537), DHFR, KDR (MIM 191306), IKZF3 (MIM 606221), RAD51D (MIM 602954), CDK4 (MIM 123829), CSF1 (MIM 120420), LIG3 (MIM 600940), SUOX (MIM 606887), CXCL5 (MIM 600324), NRAS (MIM 164790), PDGFRA, GHR, RASSF8 (MIM 608231), TYMS, POLR2B (MIM 180661), VDR (MIM 601769), SLC6A4, GSTM1, SHMT1 (MIM 182144), STARD3 (MIM 607048), IGFBP7, POLK (MIM 605650)

The total number of genes is 468.