Disease Term Disease ID Gene Symbol References
Synophrys C0431447 ATP6V1B2
BMP2
CDC42
CDH11
CREBBP
CSNK2A1
EDN3
EDNRB
BPTF
FGF3
FGFR1
FGFR2
FHL1
FLII
GJB2
GNS
GRIN2B
HNRNPU
HSPA9
IGF1R
KCNH1
KIT
MAB21L1
MEFV
MITF
KMT2A
NAGLU
NFIX
NOTCH2
PAX3
PMM2
PPP2R1A
PSMD12
NECTIN1
RAD21 30125677
SGSH
SNAI2
SMS
SOX10
TAF1
TAF6
TALDO1
TRIO
UBE2A
ZIC2
ZNF711
HMGA2
SMC1A
CUL4B
CDK10
EED
AIP
SMC3
TMEM94
RUSC2
GNE
ABCC9
CERT1
DEAF1
RAI1
POLR3A
IL1RAPL1
ERLIN2
CHSY1
DHX30
IQSEC2
PHF8
PACS2
ABCA5
PIGN
LEMD3
NIPBL 26938784
SETBP1
KIFBP
ZBTB20
ANKRD11
SLC25A24
KCNK4
CDON
WAC
NANS
WNT4
TMCO1
NSUN2
PHIP
SETD5
CWF19L1
TRMT1
PACS1
MBD5
HDAC8
KLHL7
CCDC47
KNL1
XYLT1
VPS33A
THOC6
ROGDI
EHMT1
TTI2
ASXL3
GPR101
TRAPPC9
UTP23 30125677
UQCC2
HGSNAT
KCTD7
FREM1
ARX
ASXL1
EBF3