Anencephaly

Disease Term Disease ID Gene Symbol References
Anencephaly C0002902 HOXD13
MTHFR 22754237
CCL2
TBXT
THAS 4039891
KIAA0586
B4GAT1
RPGRIP1L
B9D1
WDPCP
TMEM216
DACT1
MKS1
CEP55
TRIM36 28087737
RPGRIP1
VANGL2 20558380
CC2D2A
TMEM231
CSPP1
TCTN2
CEP290
FUZ
B9D2
VANGL1
TMEM107
TMEM67
KIF7
Cranioschisis C0265541 ACTB 22366783
ACTG1 22366783
FGD1 11093277
HOXA1 10529420
HOXB1 10529420
PAX3 7556916
PAX6 19329571
CRBN 27751757
L2HGDH 15385440
SPRED1 17704776
Exencephaly C0266453 NAT2 20641098
BHMT 17035141
CSF2 17075842
CYP1A2 20641098
FOLR1 15800851
FOLR2 11749123
GLI3 16359493
IFNG 17075842
INS 19446573
MTHFD1 12384833, 16552426
MTHFR 23056169
NPY1R 17400914
PAX3 3293260, 12739027, 12854658
PRSS8 24722141
PYY 17400914
RRM1 10716750
CCL2
SKI 9284043
TBXT
ZIC2 15136147
SPINT2 24722141
CECR2 15640247
GHRL 17400914
VANGL2 2373757
GRHL3 6635991
FUZ
VANGL1 17409324, 19319979
ZIC5 15136147
Iniencephaly C0152234 NAT2 20641098
BHMT 17035141
CSF2 17075842
CYP1A2 20641098
FOLR1 15800851
FOLR2 11749123
GLI3 16359493
IFNG 17075842
INS 19446573
MTHFD1 16552426, 12384833
MTHFR 23056169
NPY1R 17400914
PAX3 3293260, 12854658, 12739027
PRSS8 24722141
PYY 17400914
RRM1 10716750
CCL2
SKI 9284043
TBXT
ZIC2 15136147
SPINT2 24722141
CECR2 15640247
GHRL 17400914
VANGL2 2373757
GRHL3 6635991
FUZ
VANGL1 19319979, 17409324
ZIC5 15136147