Table 2

Functional enrichment in dcSSc twins

EnrichmentHit in query list
BP: tube development (1.12E−08)ALX1, ANGPT4, CD24, COL4A3, COMP, HOXD11, IL-6, KLF5, LEP, LIF, MIR27B, MYLK, NRXN3, RAMP1, RGCC, SPINT2, TBX5, TNS3, UNC5B
BP: cell adhesion (8.28E−07)CD24, CD200R1, CDH8, COL4A3, COMP, EPDR1, IL-6, JAM2, LEP, MIR27B, NEGR1, NRXN3, PCDH19, PYCARD, RGCC, S100A10, SORBS1, SPINT2
MF: calcium ion binding (3.15E−05)CDH8, COMP, EPDR1, MATN2, PADI2, PCDH19, PLN, S100A10, SCARA3, SYT12, VLDLR
MF: IL-6 receptor binding (2.33E−04)IL-6, PYCARD
MF: ECM structural constituentCOL4A3, COL11A1, COMP, MATN2, SCARA3
  • This systems level analysis was performed in ToppFun using the 76 DE genes identified in dcSSc twins.

  • The p value for each ontology is shown in parenthesis. Genes in red are upregulated in dcSSc twins, and in blue downregulated.

  • BP, biological process; dcSSc, diffuse cutaneous SSc; DE, differentially expressed; ECM, extracellular matrix; lcSSc, limited cutaneous SSc; MF, molecular function; SSc, systemic sclerosis.