Table 6.
Neurological diseases enriched among DAGs implicated by CpGs within 500 bp from the TSS in the mild subgroup.
| Neurological Diseases | p-Value * | DAGs (<500 bp from TSS) |
|---|---|---|
| Mild subtype | Hypermethylated | |
| Cerebellar ataxia with intellectual disability | 2.95 × 10−4 | ATP8A2, PAX6 |
| Movement Disorders | 6.67 × 10−4 | ARX, ATP8A2, CDH11, DKK3, ERRFI1, FGF12, FLRT2, GABRE, GYPC, NKX6-2, PAX6, PDE4B, SYN2, ZIC1 |
| Epilepsy | 7.73 × 10−4 | ARX, CCN1, CNTNAP2, ERRFI1, FGF12, GABRE, SYN2 |
| Epilepsy or neurodevelopmental disorder | 1.08 × 10−3 | ARX, CCN1, CNTNAP2, EDN3, ERRFI1, FGF12, GABRE, SYN2 |
| ARX-related X-linked mental retardation | 2.90 × 10−3 | ARX |
| Moderate to severe stage mental retardation | 2.90 × 10−3 | ARX |
| Severe hypotonia | 2.90 × 10−3 | ARX |
| Susceptibility to autism type 15 | 2.90 × 10−3 | CNTNAP2 |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4 | 2.90 × 10−3 | ATP8A2 |
| Autism | 3.95 × 10−3 | ARX, CNTNAP2, GABRE |
| Seizures | 4.52 × 10−3 | ARX, CCN1, CNTNAP2, ERRFI1, FGF12, GABRE, SYN2 |
| Familial pervasive developmental disorder | 4.64 × 10−3 | ARX, CNTNAP2 |
| Ataxia | 5.23 × 10−3 | ARX, ATP8A2, NKX6-2, PAX6, ZIC1 |
| Mild subtype | Hypomethylated | |
| Schizophrenia | 9.17 × 10−11 | ACSBG1, ADRA2B, APOA4, APOB, ATP1A4, ATP2B2, ATP4A, ATP4B, BPIFC, CA1, CA5A, CA7, CA9, CAD, CALY, CAP2, CCDC60, CCK, CCKAR, CHI3L1, CHRM1, CHRNA1, CHRNA2, CHRNA9, CHRNB4, CNR1, COL3A1, CPLX2, CRHBP, CYP2D6, CYP2E1, CYP3A5, DAB1, DAO, DDR1, DLG2, DRD1, DRD2, DRD5, DRP2, EGFR, ERBB4, FABP7, FAM3D, FCGR2A, FCGR3A/FCGR3B, GABRA3, GABRA5, GABRA6, GABRG3, GABRP, GABRR1, GFAP, GPR37, GRIK1, GRIK5, GRIN1, GRIN3A, GRM4, GRM7, HIPK3, HRH1, HTR2B, HTR3A, HTR3B, HTR3C, HTR3D, HTR3E, HTR5A, HTR6, INS, LAMA1, LGALS1, MAGEC1, MC4R, MEST, MT2A, MTNR1B, NEFM, NELL1, NOTCH4, NPAS3, NRG1, NRXN1, NTF3, NTNG2, OFCC1, OXTR, PDZRN3, PLP1, PMP22, POMC, PRL, PTGS2, RCAN2, RIT2, RPP21, SCG2, SCG5, SCN2B, SCN3B, SCN4A, SCN9A, SLC14A1, SLC18A1, SLC18A2, SLC31A2, SLC5A7, SLC6A4, SLC7A11, SOX10, SST, STON1, SYN3, SYT3, SYT4, TAC1, TF, THBS1, TRAK1, TTR, UGT1A3, XDH |
* Fisher exact p-value indicating the probability that the neurological disease is not enriched among the DAGs for this subgroup.