Macrotia

Disease Term Disease ID Gene Symbol References
Macrotia C0152421 ABL1 28288113
AEBP1
JAG1
AHSG
AKT1
ASNS
RERE
ATP6V1A
KIF1A
BMP4
BRAF
CBL
CHRNA1
CHRNA7
CLIC2
DDX3X
DYRK1A
EIF2S3
ELN
EYA1
EZH2
FGFR2
FLNA
FMR1
GLI2
GRIA3
GRIA4
GRIN2B
GTF2I
HNRNPK
INSR
ITGA3
ITGB6
KCNJ1
KRAS
LIMK1
LMNA
MAN2B1
MECP2
MGAT2
MGP
KMT2A
NAGLU
NBN
NDP
NHS
OPHN1
PRDX1
PAK3
PAX1
PIK3R1
PKHD1
PMM2
PPP1CB
MAP2K1
MAP2K2
PSMB8
PTCH1
PTEN
NECTIN1
ALDH18A1
RAD21
RAP1A
RAP1B
DPF2
RFC2
RMRP
SALL1
SET
SIM1
SLC2A1
SLC16A2
SSR4
CDKL5
ABCC8
TAF1
WWTR1
TBCD
TRIO
TRPS1
UBA1
UBE2A
KDM6A
CLIP2
ZNF711
SHOC2
KMT2D
KDM5C
SMC1A
NAA10
LAGE3
CASK
MBTPS1
EED
SYNGAP1
AP1S2
HERC1
AP3D1
BAZ1B
AIP
SMC3
FIBP
ZNHIT3
SNAP29
GTF2IRD1
PTDSS1
SLC12A6
PQBP1
ALG3
ZMPSTE24
CWC27
APC2
SLC9A6
AGPAT2
YME1L1
WDR4
SRCAP
CIT
MAN1B1
RAB3GAP1
RAB18
IQSEC2
KDM6B
RHOBTB2
DENND5A
MED13L
SUZ12
FTSJ1
RAB3GAP2
NIPBL
POLR1A
SIN3A
MMACHC
KIFBP
ZBTB20
PHGDH
BSCL2
TBL2
RBMX
PCLO
SETD2
ANKRD11
PSAT1
TBX22
TPRKB
MBTPS2
ACTL6B 31134736
OTUD6B
NDE1
PHIP
SETD5
OSGEP
PACS1
TENM3
HHAT
NUP133
TBC1D23
HDAC8
KMT2E
NUP107
THOC2
HECW2
PRUNE1
PIEZO2
STEEP1
NSD1
PGAP1
TTI2
SLC2A10
GPR101
FAR1
PHF6
WDR73
SHANK3
ALKBH8
ADAMTSL1
TP53RK
TOE1
TBC1D20
MPLKIP
CEP120
DZIP1L
BRWD3
NALCN
KANSL1
NEXMIF
CTU2
SLC6A17