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
EDN3	gene	EDN3	Expert Review Green;Victorian Clinical Genetics Services	Hirschsprung disease		Gastroenterological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Central hypoventilation syndrome, congenital, MIM# 209880;Waardenburg syndrome, type 4B, MIM# 613265;{Hirschsprung disease, susceptibility to, 4}, MIM# 613712			Aganglionic megacolon;HP:0002251	8630502;11303518;9359047;10231870;30171849;27370713		False	3	100;0;0	0.25	True		ENSG00000124205	ENSG00000124205	HGNC:3178													
EDNRB	gene	EDNRB	Expert Review Green;Victorian Clinical Genetics Services	Hirschsprung disease		Gastroenterological disorders	Unknown				Aganglionic megacolon;HP:0002251			False	3	0;0;0	0.25	False		ENSG00000136160	ENSG00000136160	HGNC:3180													
ERBB3	gene	ERBB3	Expert Review Green;Literature	Hirschsprung disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180;Complex neurocristinopathy			Aganglionic megacolon;HP:0002251	33497358;33720042		False	3	100;0;0	0.25	True		ENSG00000065361	ENSG00000065361	HGNC:3431													
KIF1BP	gene	KIF1BP	Expert Review Green;Victorian Clinical Genetics Services	Hirschsprung disease		Gastroenterological disorders	Unknown				Aganglionic megacolon;HP:0002251			False	3	0;0;0	0.25	False		ENSG00000198954	ENSG00000198954	HGNC:23419													
KIF26A	gene	KIF26A	Expert Review Green;Literature	Hirschsprung disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156			Aganglionic megacolon;HP:0002251	36564622		False	3	100;0;0	0.25	True		ENSG00000066735	ENSG00000066735	HGNC:20226													
L1CAM	gene	L1CAM	Expert Review Green;Victorian Clinical Genetics Services	Hirschsprung disease		Gastroenterological disorders	Unknown				Aganglionic megacolon;HP:0002251			False	3	100;0;0	0.25	True		ENSG00000198910	ENSG00000198910	HGNC:6470													
PHOX2B	gene	PHOX2B	Expert Review Green;Victorian Clinical Genetics Services	Hirschsprung disease		Gastroenterological disorders	Unknown				Aganglionic megacolon;HP:0002251			False	3	0;0;0	0.25	False		ENSG00000109132	ENSG00000109132	HGNC:9143													
RET	gene	RET	Expert Review Green;Victorian Clinical Genetics Services	Hirschsprung disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple endocrine neoplasia IIA, MIM# 171400;Hirschsprung disease			Aganglionic megacolon;HP:0002251	34267336		False	3	50;50;0	0.25	True		ENSG00000165731	ENSG00000165731	HGNC:9967													
SMO	gene	SMO	Expert Review Green;Literature	Hirschsprung disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	"Microcephaly, congenital heart disease, polydactyly, aganglionosis;Pallister-Hall-like syndrome	, MIM#241800"			Aganglionic megacolon;HP:0002251	32413283		False	3	100;0;0	0.25	True		ENSG00000128602	ENSG00000128602	HGNC:11119													
SOX10	gene	SOX10	Expert Review Green;Victorian Clinical Genetics Services	Hirschsprung disease		Gastroenterological disorders	Unknown				Aganglionic megacolon;HP:0002251			False	3	0;0;0	0.25	False		ENSG00000100146	ENSG00000100146	HGNC:11190													
ZEB2	gene	ZEB2	Expert Review Green;Victorian Clinical Genetics Services	Hirschsprung disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mowat-Wilson syndrome, MIM# 235730;MONDO:0009341			Aganglionic megacolon;HP:0002251	29300384		False	3	100;0;0	0.25	True		ENSG00000169554	ENSG00000169554	HGNC:14881