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
ECE1	gene	ECE1	Expert Review Red;Literature	Hirschsprung disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870			Aganglionic megacolon;HP:0002251	PMID:  9915973;9449665;9449664		False	1	0;0;100	0.25	True		ENSG00000117298	ENSG00000117298	HGNC:3146													
PMEL	gene	PMEL	Expert Review Red;Literature	Hirschsprung disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Cculocutaneous albinism, PMEL-related MONDO:0018910			Aganglionic megacolon;HP:0002251	36166100		False	1	0;0;100	0.25	True		ENSG00000185664	ENSG00000185664	HGNC:10880