Table 5 GO analysis of DMC genes identified according to severe features (GRCh37/hg19 assembly)

BP

System development

TRIM10, ADAM19, ROBO2, GAS7, HLA-F, WNT2, RXRA, OTX1, SLIT3, PBX1, NRN1, CREB5, CNTNAP2, PPP1R17, HLA-DPB1, SPTB, CTNNA2, HLA-DRB1, HLA-DPA1, FGFR3, PLXNA4, GPRIN1, STK3, CBFA2T3, ATIC, CDH13, KRT19, ITGA1, LSAMP, KIRREL3, ZFAT, MSX1, KLK5, PRDM16, OSTM1, CACNA1A, ITGA5, CD80, LOXL2, ZIC1, BCL11A, PCDHB11, UBD, BAI3, PAX8, WWOX, HLA-DQB2, VCAN, CPLX2, KRT2, DAB1, NFASC, SPP2, IKZF1, SHOX2, HCN1, MAGI2, IGF2, NUMB, HOXA13

2.16e−06

0.0016

Anatomical structure development

TRIM10, ADAM19, SGCZ, RXRA, OTX1, SLIT3, PBX1, NRN1, SPTB, CTNNA2, HLA-DPA1, GPRIN1, CDH13, KRT19, OSTM1, LOXL2, BCL11A, PCDH8, UBD, HLA-DQB2, CPLX2, NFASC, IKZF1, HCN1, MAGI2, NUMB, HOXA13, BIN1, SPAG16, GAS7, ROBO2, HLA-F, WNT2, CNTNAP2, CREB5, PPP1R17, HLA-DPB1, HLA-DRB1, PLXNA4, FGFR3, STK3, CBFA2T3, ATIC, LSAMP, ITGA1, KIRREL3, ZFAT, KLK5, MSX1, PRDM16, CACNA1A, ITGA5, CD80, ZIC1, PCDHB11, BAI3, WWOX, PAX8, VCAN, KRT2, DAB1, SPP2, SHOX2, IGF2

9.46e−06

0.0018

Developmental process

TRIM10, ADAM19, SGCZ, RXRA, OTX1, SLIT3, PBX1, NRN1, SPTB, CTNNA2, HLA-DPA1, GPRIN1, CDH13, KRT19, OSTM1, LOXL2, EBF3, BCL11A, PCDH8, UBD, HLA-DQB2, CPLX2, NFASC, IKZF1, HCN1, MAGI2, NUMB, HOXA13, BANP, BIN1, SPAG16, GAS7, ROBO2, JDP2, HLA-F, GABBR1, WNT2, CNTNAP2, CREB5, PPP1R17, HLA-DPB1, HLA-DRB1, PLXNA4, FGFR3, STK3, CBFA2T3, ATIC, MAPK9, LSAMP, ITGA1, KIRREL3, ZFAT, KLK5, MSX1, PRDM16, CACNA1A, ITGA5, CD80, ZIC1, PCDHB11, BAI3, PAX8, WWOX, VCAN, KRT2, DAB1, SPP2, SPRED3, SHOX2, IGF2

9.35e−06

0.0018

Nervous system development

ROBO2, GAS7, WNT2, RXRA, OTX1, SLIT3, PBX1, NRN1, CNTNAP2, PPP1R17, SPTB, CTNNA2, FGFR3, PLXNA4, STK3, GPRIN1, ITGA1, LSAMP, KIRREL3, MSX1, PRDM16, CACNA1A, ITGA5, BCL11A, ZIC1, PCDHB11, PAX8, VCAN, CPLX2, DAB1, NFASC, IKZF1, SHOX2, HCN1, NUMB

2.01e−05

0.0018

Organ development

TRIM10, ADAM19, ROBO2, HLA-F, WNT2, RXRA, OTX1, SLIT3, PBX1, CREB5, CNTNAP2, HLA-DPB1, SPTB, CTNNA2, HLA, DRB1, HLA-DPA1, FGFR3, PLXNA4, STK3, CBFA2T3, ATIC, KRT19, KIRREL3, ZFAT, MSX1, KLK5, PRDM16, OSTM1, CACNA1A, CD80, LOXL2, ZIC1, BCL11A, UBD, PAX8, WWOX, VCAN, HLA-DQB2, KRT2, DAB1, IKZF1, SHOX2, MAGI2, HCN1, NUMB, HOXA13

1.53e−05

0.0018

Single-multicellular organism process

TRIM10, ADAM19, OR8G1, RXRA, OTX1, SLIT3, PBX1, NRN1, SPTB, CTNNA2, HLA-DPA1, GPRIN1, RIMS1, P2RX6, CDH13, KRT19, OSTM1, LOXL2, TANC1, EBF3, BCL11A, GABRB3, PCDH8, UBD, HLA-DQB2, CPLX2, NFASC, IKZF1, HCN1, MAGI2, NUMB, HOXA13, BANP, BIN1, DNAJC5, SPAG16, GAS7, ROBO2, HLA-F, GABBR1, WNT2, CNTNAP2, CREB5, PPP1R17, HLA-DPB1, HLA-DRB1, PLXNA4, FGFR3, STK3, CBFA2T3, CHRNB3, ATIC, LSAMP, ITGA1, KIRREL3, ZFAT, KCNJ16, MSX1, KCNA6, KLK5, CACNA1E, PRDM16, CACNA1A, PRKAR1B, ITGA5, CD80, ZIC1, DLGAP2, PCDHB11, BAI3, PAX8, WWOX, VCAN, KRT2, DAB1, SPP2, SPRED3, SHOX2, IGF2, CHRNB4

1.96e−05

0.0018

Cell morphogenesis involved in differentiation

MSX1, ROBO2, CACNA1A, WNT2, RXRA, ITGA5, SLIT3, LOXL2, SPTB, CTNNA2, BCL11A, PLXNA4, FGFR3, PAX8, VCAN, DAB1, NFASC, ITGA1, NUMB, HOXA13

1.85e−05

0.0018

Multicellular organismal development

TRIM10, ADAM19, RXRA, OTX1, SLIT3, PBX1, NRN1, SPTB, CTNNA2, HLA-DPA1, GPRIN1, CDH13, KRT19, OSTM1, LOXL2, EBF3, BCL11A, PCDH8, UBD, HLA-DQB2, CPLX2, NFASC, IKZF1, HCN1, MAGI2, NUMB, HOXA13, BANP, BIN1, GAS7, ROBO2, HLA-F, WNT2, CNTNAP2, CREB5, PPP1R17, HLA-DPB1, HLA-DRB1, PLXNA4, FGFR3, STK3, CBFA2T3, ATIC, LSAMP, ITGA1, KIRREL3, ZFAT, KLK5, MSX1, PRDM16, CACNA1A, ITGA5, CD80, ZIC1, PCDHB11, BAI3, WWOX, PAX8, VCAN, KRT2, DAB1, SPP2, SPRED3, SHOX2, IGF2

6.54e−06

0.0018

Cell differentiation

BIN1, TRIM10, ROBO2, GAS7, SGCZ, JDP2, WNT2, GABBR1, RXRA, SLIT3, PBX1, CREB5, CNTNAP2, SPTB, CTNNA2, FGFR3, PLXNA4, GPRIN1, STK3, CBFA2T3, MAPK9, KRT19, ITGA1, KIRREL3, ZFAT, MSX1, PRDM16, OSTM1, CACNA1A, ITGA5, CD80, LOXL2, ZIC1, BCL11A, UBD, PAX8, WWOX, VCAN, CPLX2, KRT2, DAB1, NFASC, IKZF1, MAGI2, HCN1, HOXA13, NUMB

2.12e−05

0.0018

MF

Cadherin binding

CDH13, PTPRT, CTNNA2, NUMB, HLA-DRB1, HLA-DPA1, HLA-DQB2

8.88e−05

0.0114

CC

Synapse part

BIN1, DLGAP2, GABRB3, DNAJC5, PCDH8, RIMS1, CHRNB3, P2RX6, GABBR1, SYT3, PTPRN2, TANC1, MAGI2, CHRNB4

1.13e−05

0.0004

Axon

BIN1, DLGAP2, ROBO2, GABBR1, RXRA, PTPRN2, NFASC, CNTNAP2, TANC1, HCN1, KIRREL3, CTNNA2

1.78e−05

0.0004

MHC class II protein complex

HLA-DRB1, HLA-DPA1, HLA-DPB1, HLA-DQB2

1.28e−05

0.0004

ER to Golgi transport vesicle

HLA-DRB1, HLA-DPA1, HLA-DPB1, HLA-DQB2, HLA-F

4.01e−05

0.0006

Clathrin-coated vesicle

HLA-DRB1, BIN1, HLA-DPA1, DNAJC5, HLA-DQB2, GABBR1, SYT3, SH3BP4, HLA-DPB1

0.0002

0.0018

Cell projection

BIN1, SPAG16, ROBO2, GAS7, CACNA1A, GABBR1, RXRA, ITGA5, CNTNAP2, TANC1, CTNNA2, DLGAP2, PCDH8, GPRIN1, WWOX, P2RX6, CDH13, CPLX2, PTPRN2, NFASC, ITGA1, HCN1, KIRREL3, MAGI2

0.0005

0.0038

Plasma membrane

DNAJC5, ROBO2, HCAR1, OR8G1, SGCZ, OR10R2, HLA-F, WNT2, GABBR1, CD1C, NRN1, CNTNAP2, HLA-DPB1, SPTB, CTNNA2, WISP2, HLA-DRB1, HLA-DPA1, FGFR3, PLXNA4, GPRIN1, RIMS1, TEX101, CHRNB3, P2RX6, CDH13, PTPRT, HCAR3, KRT19, ITGA1, LSAMP, KIRREL3, KCNJ16, KCNA6, CACNA1E, TICAM2, TNFRSF10B, CACNA1A, ITGA5, CD80, TANC1, OR10J5, DLGAP2, RIMBP2, PCDHB11, GABRB3, PCDH8, BAI3, WWOX, HLA-DQB2, PTPRN2, NFASC, HCN1, MAGI2, NUMB, CHRNB4

0.0039

0.0170

Cell periphery

DNAJC5, ROBO2, HCAR1, OR8G1, SGCZ, OR10R2, HLA-F, WNT2, GABBR1, CD1C, NRN1, CNTNAP2, HLA-DPB1, SPTB, CTNNA2, WISP2, HLA-DRB1, HLA-DPA1, FGFR3, PLXNA4, GPRIN1, RIMS1, TEX101, CHRNB3, P2RX6, CDH13, PTPRT, HCAR3, KRT19, ITGA1, LSAMP, KIRREL3, KCNJ16, KCNA6, CACNA1E, TICAM2, TNFRSF10B, CACNA1A, ITGA5, CD80, TANC1, OR10J5, DLGAP2, RIMBP2, PCDHB11, GABRB3, PCDH8, BAI3, WWOX, HLA-DQB2, PTPRN2, NFASC, HCN1, MAGI2, NUMB, CHRNB4

0.0062

0.0235