Hirschsprung disease

Disease Term Disease ID Gene Symbol Classification References Source
HIRSCHSPRUNG DISEASE
388C0019569MONDO:0018309MESH:D006627MONDO_0018309
ABCD1 Unknown
33151932
Disgenet GWAS catalog Orphanet
ATP7A Unknown
33151932
Disgenet GWAS catalog Orphanet
AXIN2 Unknown — Disgenet
BMI1 Unknown
29429387
CTD Disgenet
CARD14 Unknown
26887379
GWAS catalog
CAVIN2 Unknown
25792468
CTD Disgenet
DDX51 Unknown
26887379
GWAS catalog
DEFB128 Unknown
25310821
GWAS catalog
DEFB129 Unknown
25310821
GWAS catalog
DENND3 Unknown — Disgenet
DEPDC1 Unknown — Disgenet
DPPA5 Unknown — Disgenet
DSCAM Unknown — Disgenet
ECE1 Unknown
20301612 9915973
CTD Disgenet Orphanet
EDN3 Unknown
20301612 8630502 8630503 8896568 9359047
CTD Disgenet Orphanet
EDNRB Unknown
20301612 8896568
CTD Disgenet Orphanet
ERBB2 Unknown
33497358
ClinVar Disgenet Orphanet
ERBB3 Unknown
33497358
Disgenet Orphanet
FMN2 Unknown — Disgenet
FXYD4 Unknown
29379196
GWAS catalog
GDNF Unknown
20301612 8896568 8968758
CTD Disgenet Orphanet
GFRA1 Unknown — Disgenet
GSTM1 Unknown — Disgenet
GSTT1 Unknown — Disgenet
HNRNPF Unknown
29379196
GWAS catalog
IKBKB Unknown — Disgenet
IQCF5 Unknown — Disgenet
MAN2A2 Unknown — Disgenet
MED15 Unknown — Disgenet
MGAM2 Unknown — Disgenet
MYBPC3 Unknown — Disgenet
NOTCH4 Unknown — Disgenet
NRG1 Unknown
19196962 22974608 25310821 27702942
CTD Disgenet GWAS catalog
NRG3 Unknown — Disgenet
NRTN Unknown
20301612
Disgenet Orphanet
NUP98 Unknown — Disgenet
OAS3 Unknown — Disgenet
PACS1 Unknown — Disgenet
PCDH15 Unknown — Disgenet
PHAX Unknown — Disgenet
PHOX2B Unknown
27702942
Disgenet GWAS catalog
PHRF1 Unknown — Disgenet
PIGO Unknown — Disgenet
POLR2F Unknown — Disgenet
POR Unknown — Disgenet
PROKR1 Unknown — Disgenet
RET Unknown
19196962 25310821 27702942 29379196 30031151 31609069 8114938 8896568
CTD Disgenet GWAS catalog Orphanet
SEMA3C Unknown
25839327
Disgenet Orphanet
SEMA3D Unknown
25839327
Disgenet Orphanet
SHH Unknown — Disgenet