Disease Term Disease ID Gene Symbol References
Cutis marmorata C0263401 ABL1 28288113
ACTA2
ADAR
AGXT
CBS
DDX11
DHCR7
ELN
FBN1
FOXE3
FLG
GUCY1A1
RBPJ
LIG4
LOX
SMAD3
MAT2A
KMT2A
MYD88
MYH11
MYLK
NFIA
NFIX
NOTCH1 25132448
PIK3CA
PRKG1
PTEN
PTPN11
RAD21
DPF2
RPS6KA3
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SOX4
SOX11
TGFB2
TGFB3
TGFBR1
TGFBR2
RNF113A
MFAP5
SMC1A
ARID1A
SMC3
PTDSS1
AKT3
RNASEH2A
TREX1
MORC2
EXOC6B 23422942, 25256811
PDSS1
NIPBL
SAMHD1
LARP7
ADA2
SOX18
DLL4
NSUN2
SETD5
HDAC8
ARID1B
ARHGAP31
DOCK6
IFIH1
FTO
RNASEH2B
UBA5
RNASEH2C
TBCK
ARL6IP6
ARID2
EOGT
FLG-AS1
STING1
NPHP3-ACAD11