Macrocephaly

Disease Term Disease ID Gene Symbol References
Macrocephaly C0221355 ACADM
ACADVL
ADK
AGTR2
AKT1
ANK3
ARSB
ASPA
NKX3-2
BBS1
BMP2
BMPR1A
BRAF
CACNA1E 30343943
CAMK2G
RUNX2
CCND2 29642246
CHD1
CHD3 29463886
CHD4
CHRNA7
CLCN4
CLCN7
COL2A1
COL4A1
CSF1R
DAG1
DHCR24
DLG3
DMD
DNMT3A
DNMT3B
DPYD
SLC26A2
DVL1
DVL3
EDN1
EIF2B1
EML1
ETFA
ETFB
ETFDH
EXT2
EZH2
ACSL4
FBN1
FKTN
GPC4
FGFR1
FGFR3
FGFR2
FLI1
FMR1
AFF2
MTOR
FZD2
GCDH
GDI1
B4GALT1
GJA1
GPC3
GLI3
GNAI3
GNAQ
GNAS
GRIA3
GUSB
H1-4
HCFC1
HELLS
HEXB
HOXD13
HRAS
HSD17B4
IDS
IDUA
IGBP1
IHH
INPPL1
KCNJ1
KCNJ8
KIF22
KRAS
L1CAM
LAMB1
LBR
LFNG
LRP2
LRP4
LRP5
MAN2B1
MECP2
MGAT2
MITF
MOCS1
MOCS2
MSX2
MTM1
TRIM37
NF1
NFIA
NFIB 30388402
NFIX
NONO
NOTCH2
NRAS
ROR2
ODC1 30475435
TNFRSF11B
OPHN1
PAK3
PEX1
PEX6
PEX10
PEX12
PEX13
PEX14
PIGA
PIK3CA
PIK3R2
PITX1
PLCB4
PLG
PPP1CB
PPP2R5D
MAP2K1
MAP2K2
PTCH1
PTEN
PTHLH
PEX19
PEX2
PEX5
RAC1
RAF1
RPS6KA3
SDHB
SDHC
SDHD
SIM1
SLC2A1
SMARCB1
SMS
SOS1
SOX9
SYN1
SYP
TBX6
TBX15
TCF12
THRA 27144938
TSPAN7
TWIST1
UBE2A
UBE3A
WNT5A
ZIC1
ZNF711
ZNF41
SHOC2
USP9X
KDM5C
CUL4B
OFD1
PEX3
TNFSF11
PTCH2
EED
CRADD
MPDZ
TNFRSF11A
PEX11B
CCNK
EIF2B4
EIF2B3
EIF2B2
EIF2B5
AP1S2
HERC1
LARGE1
TRIP11
PEX16
ARHGEF6
MACROH2A1
GABBR2
FRMPD4
HDAC4
PTDSS1
ZBTB24
SEC24D
WASHC5
MED12
AKT3
HDAC6
ABCC9
HUWE1
CWC27
APC2
TCIRG1
RXYLT1
TUBB3
SEC23B
SEC23A
POMT1
DLL3
YME1L1
SIX2
B4GAT1
MID2
POLR3A
KPTN
IL1RAPL1
B4GALT7
CNKSR2
IQSEC2
SLC35D1
MLC1
CAMTA1
BICD2
RPGRIP1L
DICER1
SUZ12
PIGN
PDSS1
SHPK
FTSJ1
POC1A
SH2B1
ZBTB20
FOXP1
CCDC22
SETD2
SNX10
POMT2
SOST
ZDHHC9
TBC1D7 23687350, 24515783
TMEM216
PIGT
SUFU
TMCO1
RNF125
AGGF1
DYNC2I1
ASXL2
SLC29A3
POMGNT1
PEX26
ERMARD
KMT2E
ANKH
INPP5E
WDR35
CC2D2A
IFT80
CHD8 24998929, 30670789
NLRC4
FAM111A
STEEP1
NSD1
NXN
UPF3B
CCDC28B
FKRP
DYNC2H1
ALG13
L2HGDH
SLC2A10
CDCA7
KIAA1109
POMK
RNF135
PHF6
ZNF469
HES7
SLC9A7
POMGNT2
SHANK3
DYNC2I2
TMEM67
ALKBH8
STRADA
C12orf57
NLRP3
RAB39B
ANTXR2
WDR81
DIS3L2
RIPPLY2
AMER1
PTCHD1
B3GLCT
MESP2
B3GALNT2
SPRED1
ARX
TET3
HEPACAM
BRWD3 28475857
SUMF1
ZNF81
KIF7
MYMK
USP27X
D2HGDH
CRPPA
ZBTB42
KLLN
Relative macrocephaly C1849075 ACAN
APC
BRAF
SERPINH1
DHCR24
FBN1
FH
GHR
IGF2
IHH
NF1
TONSL
NONO
POLE
RAF1 17603482, 17603483
RIT1
RPL5
SON
THRA
TRPS1
PCGF2
CUL4B
FOXN1
CDK13 28807008
HERC1 27108999
TRIP11
NRXN3
PTDSS1
ZMPSTE24
APC2
DEAF1 28940898
POLR3A
OBSL1
ADNP
COG4
IFT81
TMCO1
ACER3
SNX14
ARID1B
XYLT1
NXN
TBL1XR1
ITCH
CEP120
DIPK1A