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
CELSR3	gene	CELSR3	Expert Review Amber;Literature	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hirschsprung disease				27619161		False	2	0;0;100	1.11	False		ENSG00000008300	ENSG00000008300	HGNC:3230													
DENND3	gene	DENND3	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	susceptibility to Hirschsprung disease				28274275		False	2	0;100;0	1.11	False		ENSG00000105339	ENSG00000105339	HGNC:29134													
DHCR7	gene	DHCR7	Expert Review Amber;Other	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Smith-Lemli-Opitz syndrome (MIM:270400) and Hirschsprung disease				3812577;6886911;14556255		False	2	0;100;0	1.11	False		ENSG00000172893	ENSG00000172893	HGNC:2860													
ECE1	gene	ECE1	Alder Hey - Erasmus MC;Expert Review Amber;Radboud University Medical Center, Nijmegen	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870				28543993;27370713;9915973		False	2	0;100;0	1.11	False		ENSG00000117298	ENSG00000117298	HGNC:3146													
GDNF	gene	GDNF	Alder Hey - Erasmus MC;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	susceptibility to Hirschsprung disease 3, 613711;{Hirschsprung disease, susceptibility to, 3}, 613711;Hirschsprung Disease, Dominant;short-segment HSCR;long-segment HSCR				28543993;27370713;8896568;8896569;8968758		False	2	100;0;0	1.11	False		ENSG00000168621	ENSG00000168621	HGNC:4232													
GFRA1	gene	GFRA1	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	susceptibility to Hirschsprung disease				28543993;27370713;9545641;17507417;12624147		False	2	100;0;0	1.11	False		ENSG00000151892	ENSG00000151892	HGNC:4243													
NCLN	gene	NCLN	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	susceptibility to Hirschsprung disease				28274275		False	2	0;100;0	1.11	False		ENSG00000125912	ENSG00000125912	HGNC:26923													
NKX2-1	gene	NKX2-1	Expert Review Amber;Other	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hirschsprung disease;short-segment aganglionosis				15548547; 17640327		False	2	0;0;100	1.11	False		ENSG00000136352	ENSG00000136352	HGNC:11825													
NRG1	gene	NRG1	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	susceptibility to Hirschsprung disease				28543993;22574178;21706185;28256518;25475805;22377709		False	2	50;50;0	1.11	False		ENSG00000157168	ENSG00000157168	HGNC:7997													
NRG3	gene	NRG3	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	susceptibility to Hirschsprung disease				27889765;22589734;23315268		False	2	0;0;100	1.11	False		ENSG00000185737	ENSG00000185737	HGNC:7999													
NUP98	gene	NUP98	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	susceptibility to Hirschsprung disease				28274275		False	2	0;100;0	1.11	False		ENSG00000110713	ENSG00000110713	HGNC:8068													
SEMA3C	gene	SEMA3C	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	susceptibility to Hirschsprung disease				25839327		False	2	0;100;0	1.11	False		ENSG00000075223	ENSG00000075223	HGNC:10725													
SEMA3D	gene	SEMA3D	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	susceptibility to Hirschsprung disease				23372769;25839327		False	2	0;100;0	1.11	False		ENSG00000153993	ENSG00000153993	HGNC:10726													
TBATA	gene	TBATA	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	susceptibility to Hirschsprung disease				28274275		False	2	0;100;0	1.11	False		ENSG00000166220	ENSG00000166220	HGNC:23511													
VCL	gene	VCL	Alder Hey - Erasmus MC;Expert Review Amber	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	susceptibility to Hirschsprung disease;short-segment Hirschsprung disease (S-HSCR)				28342760		False	2	0;100;0	1.11	False		ENSG00000035403	ENSG00000035403	HGNC:12665