Top 10 upregulated and downregulated DEGs identified after mRNASeq analysis of skin fibroblasts in patients with SYS and controls
| Gene | ID | Log2FC | FDR | |
| Upregulated | HOTAIR | ENSG00000228630 | 7.470 | 8.02E-30 |
| MTRNR2L1 | ENSG00000256618 | 5.523 | 1.14E-05 | |
| PTPRD | ENSG00000153707 | 4.625 | 1.23E-06 | |
| SLITRK4 | ENSG00000179542 | 4.524 | 8.81E-03 | |
| GATA2-AS1 | ENSG00000244300 | 4.304 | 1.41E-18 | |
| PITX1 | ENSG00000069011 | 4.234 | 8.16E-03 | |
| CLDN1 | ENSG00000163347 | 4.145 | 1.12E-06 | |
| ISL2 | ENSG00000159556 | 4.088 | 1.93E-03 | |
| RARB | ENSG00000077092 | 4.000 | 1.49E-02 | |
| VANGL2 | ENSG00000162738 | 3.975 | 8.09E-07 | |
| Downregulated | ANGPTL1 | ENSG00000116194 | −7.084 | 3.66E-06 |
| TBX5 | ENSG00000089225 | −6.982 | 9.18E-39 | |
| PI16 | ENSG00000164530 | −6.385 | 1.29E-03 | |
| TBX5-AS1 | ENSG00000255399 | −5.457 | 5.44E-12 | |
| INMT | ENSG00000241644 | −5.041 | 2.56E-03 | |
| CRLF1 | ENSG00000006016 | −5.029 | 6.80E-04 | |
| ASPA | ENSG00000108381 | −4.813 | 1.02E-03 | |
| WISP2 | ENSG00000064205 | −4.420 | 3.87E-08 | |
| KY | ENSG00000174611 | −4.248 | 1.30E-11 | |
| APOD | ENSG00000189058 | −4.213 | 6.00E-05 |
Genes analysed by quantitative PCR are given in bold.
DEGs, differentially expressed genes; FC, fold change; FDR, false discovery rate ; mRNASeq, mRNA sequencing; SYS, Schaaf-Yang syndrome .