Macrostomia

Disease Term Disease ID Gene Symbol References
Macrostomia C0024433 ACTB
ACTG1 8941379
ADSL
AGA
ATIC
ATP6V1B2
ATRX
BRAF
CDC42
CENPF
DDX11
DHCR7
DPYD
ELN
FBN1
GPC4
FOXG1
MTOR
FUCA1
GALNS
GJB2
GPC3
GLB1
GNS
GTF2I
HNRNPH2
IDUA
INSR
KCNH1
KCNJ8
LIG4
LIMK1
MECP2
MGAT2
NONO
ROR2
PIK3CA
PMM2
MAP2K1
PSPH
RAF1
DPF2
RFC2
RPS6KA3
SALL1
SET
SMARCA2
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SOX4 30661772
SOX11
SSR4
CDKL5
STXBP1
TALDO1
TCF4
TCOF1
UBE2A
UBE3A
CLIP2
ZNF148
RNF113A
BRPF1
ARID1A
TRRAP
CUL4B
OFD1
PPM1D
PTCH2 19208383
AP1S2
BAZ1B
AP4M1
TRIP12
NRXN1
PIGL
POLR1C
GABBR2
GTF2IRD1
TTC37
ADAMTSL2
IFT140
PTDSS1
MED12
HDAC6
ABCC9 26938784
HUWE1
CD96
SF3B4
IRX5
STAG1
SEC23A
AP4B1
RAI1
ZMYND11
WDR4
SRCAP
AP4S1
ERLIN2
NTNG1
POGZ
KDM6B
PACS2
RPGRIP1L
SPECC1L 21703590
MED13L
AP4E1
PIGN
SETBP1
TBL2
ANKRD11
KCNK4
POLR1D
DACT1
ACTL6B
LARP7
TMCO1
QRICH1
NSUN2
MKS1
TMEM70
PACS1
MBD5
GATAD2B
ARID1B
HECW2
CC2D2A
ZSWIM6
NXN
SNIP1
ALG9
PGAP1
FRAS1 17163535
KLHL15
ASXL3
WDR73
PIGY
UBE3B
TMEM67
STRADA
TWIST2
B3GLCT
ARID2
FLCN
NALCN
SH3PXD2B