Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCC9 gene ABCC9 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR 28543993; 25310821 False 1 0;0;100 1.11 False ENSG00000069431 ENSG00000069431 HGNC:60 ARID1B gene ARID1B Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hirschsprung disease 27511161 False 1 0;0;100 1.11 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARVCF gene ARVCF Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown HSCR; Hirschsprung s Disease risk 26887379 False 1 0;0;100 1.11 False ENSG00000099889 ENSG00000099889 HGNC:728 BACE2 gene BACE2 Expert Review Red;Other Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown HSCR False 1 0;0;0 1.11 False ENSG00000182240 ENSG00000182240 HGNC:934 COMT gene COMT Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown HSCR; Hirschsprung s Disease risk 26887379 False 1 0;0;100 1.11 False ENSG00000093010 ENSG00000093010 HGNC:2228 CREBBP gene CREBBP Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rubinstein-Taybi syndrome and Hirschsprung disease 26275701 False 1 0;0;100 1.11 False ENSG00000005339 ENSG00000005339 HGNC:2348 DLL3 gene DLL3 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR; HSCR susceptibility 28543993; 21841314 False 1 0;0;100 1.11 False ENSG00000090932 ENSG00000090932 HGNC:2909 DNMT3B gene DNMT3B Expert Review Red;Other Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown long-segment Hirschsprung disease 24577265 False 1 0;0;100 1.11 False ENSG00000088305 ENSG00000088305 HGNC:2979 DSCAM gene DSCAM Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR; Down syndrome-associated HSCR 28543993; 23671607 False 1 0;0;100 1.11 False ENSG00000171587 ENSG00000171587 HGNC:3039 ELP1 gene ELP1 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR; Hirschsprung disease (HSCR) 28543993; 20361209; 25717236 False 1 0;0;100 1.11 False ENSG00000070061 ENSG00000070061 HGNC:5959 FZD3 gene FZD3 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown Hirschsprung disease 27619161 False 1 0;0;100 1.11 False ENSG00000104290 ENSG00000104290 HGNC:4041 GABRG2 gene GABRG2 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown Risk of Hirschsprung Disease 22325380; 27889765 False 1 0;0;100 1.11 False ENSG00000113327 ENSG00000113327 HGNC:4087 GAL gene GAL Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown Hirschsprung disease; HD 22325380 False 1 0;0;100 1.11 False ENSG00000069482 ENSG00000069482 HGNC:4114 GAP43 gene GAP43 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown Hirschsprung disease; HD 22325380 False 1 0;0;100 1.11 False ENSG00000172020 ENSG00000172020 HGNC:4140 GHRL gene GHRL Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hirschsprung disease (HSCR) 26211777 False 1 0;0;100 1.11 False ENSG00000157017 ENSG00000157017 HGNC:18129 IL11 gene IL11 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR 26172388; 28543993 False 1 0;0;100 1.11 False ENSG00000095752 ENSG00000095752 HGNC:5966 INMT gene INMT Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR 28543993; 26183064 False 1 0;0;100 1.11 False ENSG00000241644 ENSG00000241644 HGNC:6069 MAPK10 gene MAPK10 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown association with HSCR 21712996; 27902697 False 1 0;100;0 1.11 False ENSG00000109339 ENSG00000109339 HGNC:6872 MBTPS2 gene MBTPS2 Expert Review Red;Other Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP syndrome with or without BRESHECK syndrome, 308205 False 1 0;0;100 1.11 False ENSG00000012174 ENSG00000012174 HGNC:15455 MED12 gene MED12 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hirschsprung disease; HSCR 24715367 False 1 0;0;100 1.11 False ENSG00000184634 ENSG00000184634 HGNC:11957 MIR146A gene MIR146A Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown Hirschsprung disease risk 25445498 False 1 0;0;100 1.11 False ENSG00000253522 ENSG00000283733 HGNC:31533 MIR369 gene MIR369 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown HSCR; Hirschsprung's disease 28412032 False 1 0;0;100 1.11 False ENSG00000199025 ENSG00000199025 HGNC:31783 NRSN1 gene NRSN1 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown Hirschsprung disease; HD 22325380 False 1 0;0;100 1.11 False ENSG00000152954 ENSG00000152954 HGNC:17881 NRTN gene NRTN Alder Hey - Erasmus MC;Expert Review Red Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted susceptibility to Hirschsprung disease 28543993;9700200;21206993 False 1 0;0;100 1.11 False ENSG00000171119 ENSG00000171119 HGNC:8007 NTRK3 gene NTRK3 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hirschsprung disease 19040714;19556619 False 1 0;0;100 1.11 False ENSG00000140538 ENSG00000140538 HGNC:8033 PIGV gene PIGV Expert Review Red;Other Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1, MIM:239300 and Hirschsprung disease 21739589;24129430 False 1 0;0;100 1.11 False ENSG00000060642 ENSG00000060642 HGNC:26031 PSPN gene PSPN Alder Hey - Erasmus MC;Expert Review Red Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted susceptibility to Hirschsprung disease 28543993;21206993;18970938 False 1 0;0;100 1.11 False ENSG00000125650 ENSG00000125650 HGNC:9579 PTCH1 gene PTCH1 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR; HSCR susceptibility 28543993; 24073265 False 1 0;0;100 1.11 False ENSG00000185920 ENSG00000185920 HGNC:9585 RELN gene RELN Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown Hirschsprung disease; HD; Risk of Hirschsprung Disease 27889765 False 1 0;0;100 1.11 False ENSG00000189056 ENSG00000189056 HGNC:9957 RMRP gene RMRP Expert Review Red;Other Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia (MIM:250250) with Hirschsprung disease 8444246 False 1 0;0;100 1.11 False ENSG00000269900 ENSG00000269900 HGNC:10031 RORA gene RORA Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR 28543993; 25310821 False 1 0;0;100 1.11 False ENSG00000069667 ENSG00000069667 HGNC:10258 SAMD9 gene SAMD9 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome 617053 27182967 False 1 0;100;0 1.11 False Other - please provide details in the comments ENSG00000205413 ENSG00000205413 HGNC:1348 SEMA3A gene SEMA3A Alder Hey - Erasmus MC;Expert Review Red Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted susceptibility to Hirschsprung disease 23372769;25839327 False 1 0;100;0 1.11 False ENSG00000075213 ENSG00000075213 HGNC:10723 SLC6A20 gene SLC6A20 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR 28543993; 26049783 False 1 0;0;100 1.11 False ENSG00000163817 ENSG00000163817 HGNC:30927 SMO gene SMO Expert list;Expert Review Red Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal postaxial polydactyly MONDO:0020927;Microcephaly HP:0000252;congenital heart disease MONDO:0005453;Hirschsprung disease MONDO:0018309 32413283 False 1 50;0;50 1.11 False ENSG00000128602 ENSG00000128602 HGNC:11119 SOX2 gene SOX2 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown association with HSCR 21712996 False 1 0;0;100 1.11 False ENSG00000181449 ENSG00000181449 HGNC:11195 TCF4 gene TCF4 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted risk of HSCR 28543993;21712996;17436255;24058414 False 1 0;100;0 1.11 False ENSG00000196628 ENSG00000196628 HGNC:11634 TUBA1A gene TUBA1A Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown lissencephaly and Hirschsprung disease 23528852 False 1 0;0;100 1.11 False ENSG00000167552 ENSG00000167552 HGNC:20766 VAMP5 gene VAMP5 Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown risk of HSCR 28543993; 26970437 False 1 0;0;100 1.11 False ENSG00000168899 ENSG00000168899 HGNC:12646 WNT3A gene WNT3A Expert Review Red;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders Unknown Hirschsprung disease 24817932 False 1 0;0;100 1.11 False ENSG00000154342 ENSG00000154342 HGNC:15983