Table 4 Rare diseases significantly enriched in hypermethylated DMCs in the LGA group according to Enrichr [36]
Term | Overlap | P value | Adjusted P value | Odds ratio | Combined score | Genes |
|---|---|---|---|---|---|---|
Branchial arch defects | 17/142 | 1.83E-06 | 0.004 | 4.372 | 57.765 | GCM2;TFAP2A;TBX1;FOXC1;TWIST2;GATA3;KY;TBX2;SHH;CYP26B1;CXCL12;SIX2;HAND2;PAX9;MSX1;PITX1;NKX2-3 |
Ulnar-mammary syndrome | 11/63 | 3.11E-06 | 0.004 | 6.759 | 85.712 | TFAP2A;TBX1;FGF17;TBX15;CDKN1A;SHH;BMP2;MYC;TBX5;JUNB;TBX2 |
Dominant cleft palate | 23/267 | 9.61E-06 | 0.009 | 3.042 | 35.149 | TFAP2A;TBX1;CDKN1A;KCNK9;WNK4;TWIST2;HOXC13;KLF4;KY;CKAP4;SKI;SHH;BMP2;TERT;PTER;ESRP2;MYC;PAX9;KRT14;DVL1;COL9A3;MSX1;PITX1 |
Renal agenesis bilateral | 11/77 | 2.29E-05 | 0.016 | 5.321 | 56.867 | CDKN1A;PTER;PAX8;WT1;SIX2;LHX1;GATA3;NOTUM;AQP2;ACTB;MNX1 |
Malignant cylindroma | 22/282 | 6.75E-05 | 0.032 | 2.724 | 26.160 | FOXA1;CDKN1A;FOXC1;DYSF;GATA3;KLK8;KLK10;CKAP4;PURA;GJA1;CXCL12;TERT;PAX8;WT1;ALPP;MYC;ERBB2;CD9;COL9A3;PGR;CSK;ADA |
Mayer-Rokitansky-Kuster-Hauser syndrome | 12/103 | 7.78E-05 | 0.032 | 4.212 | 39.852 | NR5A1;IL32;MUC1;SRD5A2;PTER;WT1;LHX1;WNT9B;PGR;AMH;TBX5;KY |
Urethral cancer | 12/103 | 7.78E-05 | 0.032 | 4.212 | 39.852 | SHH;TERT;PAX8;ALPP;WT1;MYC;ERBB2;GATA3;AMH;KY;CKAP4;ADRA2A |
Symphalangism distal | 11/94 | 1.47E-04 | 0.035 | 4.228 | 37.300 | SHH;HBM;BMP2;PTER;MYC;PRRX2;SP6;HOXC13;MSX1;GDF5;CKAP4 |
Glassy cell carcinoma of the cervix | 4/10 | 1.61E-04 | 0.035 | 21.108 | 184.317 | MUC1;ERBB2;KY;CKAP4 |
Split hand foot malformation | 14/146 | 1.72E-04 | 0.035 | 3.391 | 29.406 | WNT10A;AMN;LBX1;CKAP4;GJA1;SHH;PTER;MYC;LHX1;HAND2;PAX9;SP6;MSX1;ADA |
Testicular cancer | 12/115 | 2.25E-04 | 0.035 | 3.719 | 31.244 | TFAP2A;CDKN1A;TERT;SRD5A2;PAX8;ALPP;WT1;MYC;ERBB2;CD9;AMH;KY |
22q11.2 deletion syndrome | 12/116 | 2.44E-04 | 0.035 | 3.683 | 30.642 | GCM2;SLC25A1;TBX1;SHH;CYP26B1;PTER;HAND2;GATA3;PRODH;TBX5;MED15;TBX2 |
Gordon syndrome | 15/171 | 2.73E-04 | 0.035 | 3.076 | 25.246 | TBX1;IL11;OSR1;WNK4;STK39;AQP5;OXSR1;KY;SHH;PTER;PAX8;MYC;SCNN1B;WNK2;APOE |
Leydig cells hypoplasia | 15/171 | 2.73E-04 | 0.035 | 3.076 | 25.246 | UCN;CDKN1A;EGR3;SRD5A2;OSR1;HSPA2;NR5A1;GJA1;BMP2;SHH;WT1;SIX2;ERBB2;PTGDS;AMH |
Meleda disease | 11/101 | 2.80E-04 | 0.035 | 3.897 | 31.891 | UCN;GJA1;WNT10A;JUP;MYC;KRT14;AQP5;EVPL;KY;KRT6A;KRT9 |
Palmoplantar keratoderma | 11/101 | 2.80E-04 | 0.035 | 3.897 | 31.891 | UCN;GJA1;WNT10A;JUP;MYC;KRT14;AQP5;EVPL;KY;KRT6A;KRT9 |
Cleft lip and/or palate with mucous cysts of lower | 12/118 | 2.86E-04 | 0.035 | 3.613 | 29.483 | TFAP2A;TBX1;BMP2;SHH;TERT;PTER;BHMT2;PAX9;WNT9B;MSX1;KY;CKAP4 |
Cleft lip palate-tetraphocomelia | 12/118 | 2.86E-04 | 0.035 | 3.613 | 29.483 | TFAP2A;TBX1;BMP2;SHH;TERT;PTER;BHMT2;PAX9;WNT9B;MSX1;KY;CKAP4 |
Aortic arches defect | 5/20 | 2.88E-04 | 0.035 | 10.566 | 86.152 | TBX1;BMP2;HAND2;FOXH1;GATA3 |
Talipes equinovarus | 21/292 | 3.01E-04 | 0.035 | 2.489 | 20.180 | CDKN1A;OSR1;WNK4;STK39;HOXC13;HOXC12;HOXD11;GDF5;HOXD10;CELSR3;KY;TBX2;COL1A1;SKI;PURA;TERT;PTER;CYP1B1;HYLS1;MSX1;PITX1 |