Hirschsprung disease

Disease Term Disease ID Gene Symbol References
Hirschsprung Disease C0019569, 388 ACTG2
ARL3
ARVCF
ASCL1
ATRX
BDNF
BMI1 29429387
BRCA1
BRCA2
COMT
CREBBP
DHCR7
DSCAM
ECE1 9915973
EDN3 9359047, 8630502, 8630503, 8896568
EDNRB 8896568
CELSR3 27619161
EP300
ERCC4
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
FOXF1
GAP43 22325380
GATA1
GDNF 8896568, 8968758
GFRA1 19196962
GJB2
GP1BB
NRG1 25310821, 19196962, 22974608, 27702942
KIR2DL1 19196962
KIR2DS1 19196962
KIR2DS4 19196962
KIR3DL1 19196962
KIT
KRAS
L1CAM
KITLG
MITF
NPHP1
NRTN
NTRK3 19556619
PAX3
POLR2F
RELN 27889765
RAD51
RAD51C
RET 8114938, 27207748, 30031151, 14718397, 29020875, 27702942, 27847096, 19853744, 25310821, 24972642, 20979234, 21765987, 9879991, 25694125, 21986619, 7633441, 18206480, 23744765, 9090527, 11073534, 8896568, 19336503, 19469690, 8918855, 14715928, 9681852, 16565500, 7874109, 10790203, 11502806, 17372903, 9230192, 19196962, 9223675, 7881414
RMRP
RREB1
SLC6A8
SNAI2
SOX10
TBX1
TCF4
NKX2-1 17640327
HIRA
UFD1
VRK2 27702942
XRCC2
FZD3 27619161
MKKS
NAA10
CAVIN2 25792468
PHOX2B
PIGL
SEC24C
CEP104
KIAA0586
ZEB2 21712996
MED12 24715367
SF3B4
MAD2L2
PIBF1
SEMA3C 25839327
GJB6
PROKR1
ZNF423
EXOC6B
KATNIP
RPGRIP1L
RIMBP2 19196962
PIGN
SH2B1
SETBP1
KIFBP
UTP25 25007945
B9D1
PGAP2
UBE2T
GAL 22325380
TMEM216
MBTPS2
TMEM138
AHI1
BCOR
MKS1
FANCL
RFWD3
FANCI
CSGALNACT2 19196962
PIGV
INPP5E
SALL4
ARID1B 27511161
CC2D2A
FANCM
TMEM237
CPLANE1
TMEM231
TCTN1
PALB2
CSPP1
TCTN2
CEP290
ARMC9
DDX59
BRIP1
SLX4
ABHD1 19196962
PIGO
AFAP1-AS1 28924375
PIGY
WNT3A 24817932
TMEM67
PGAP3
CEP41
B3GALT6
NRSN1 22325380
CEP120
ARX
APLF
ARL13B
HYLS1
RASGEF1A 19196962
JMJD1C
SEMA3D 25839327
MYO1H
PIGW
MIR128-1 29429387
MIR195 25007945
MIR206 25792468
MIR218-1 25786906
MIR369 28412032
LINC00327 19196962
LCT-AS1 29429387