Disease Term Disease ID Gene Symbol References
Microstomia C0026034 ABL1 28288113
AKT1
BIN1
APC
ARVCF
RERE
BCR
BMP2
BMPR1A
CCND2
CDC6
CHRNG
COL2A1
COL3A1
COL7A1
COL11A1
COL11A2
COMT
CREBBP
CRKL
DHCR24
EDN1
EP300
BPTF
FBN1
FGFR2
FLNA
GABRD
GBA
GJA1
GNAI3
GP1BB
HIVEP2
HSPG2
IGF1R
ITGA3
LAMA3
LAMB3
LAMC2
LMNA
LTBP3
SMAD4
MAF
MCM5
MECP2
MMP1
MUSK
MYBPC1
MYH3
NFIA
NFIX
NONO
NOTCH2
ORC1
ORC4
OTX2
PAFAH1B1
PAX3
PIGA
PIK3CA
PIK3R2
PLCB4
PRRX1
POLD1
MAPK1
PTCH1
PTEN
ALDH18A1
RPL10
RREB1
RYR1
SKI
SMS
SON
TAF6
TBX1
TCOF1
TNNI2
TNNT3
TPM2
TTN
TTPA
HIRA
TWIST1
UFD1
WNT3
YWHAE
PCGF2
ZBTB16
BRPF1
CDC45
KCNAB2
CDK13 28807008
TP63
DCHS1
CRLF1
TRIP4
COG1
RECQL4
CHST3
TBX4
ADAMTS3
POLR1C
SEC24C
TTC37
SEMA3E
EIF4A3
AMMECR1
MED12
AKT3
HUWE1
PQBP1
ZMPSTE24
SPEG
SEPTIN9
SRCAP
TXNL4A
MAPRE2
TLK2
POLR3A
B4GALT7
CHSY1
POGZ
MAPK8IP3
CAMTA1
SATB2
CLCF1
ATP6V0A2
PIGN
ORC6
RTTN
SIN3A
SH2B1
AUTS2
ZBTB20
B3GAT3
DCPS
DSE
SLC25A24
DONSON
GMNN 26637980
POLR1D
RLIM
RIPK4
BPNT2
CHD7
OSGEP
IARS2
FAM20C
GATAD2B
TRMT5
PIEZO2
PRDM16
BCL11B
FAT4
FBXO11
CDT1
UBE3B
COG7
CHST14
SP7
CANT1
TBC1D20
GSC
CCBE1
TUBB
JMJD1C
PHACTR1
NALCN
RSPO2
FREM2