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 list;Expert Review Amber	Paediatric pseudo-obstruction syndrome		Gastrohepatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM:613870				9915973;9449665;17131407		False	2	0;100;0	2.5	False		ENSG00000117298	ENSG00000117298	HGNC:3146													
GFRA1	gene	GFRA1	Expert list;Expert Review Amber	Paediatric pseudo-obstruction syndrome		Gastrohepatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Susceptibility to Hirschsprung disease, MONDO:0100179				28543993;27370713;9545641;17507417;12624147		False	2	0;100;0	2.5	False		ENSG00000151892	ENSG00000151892	HGNC:4243													
KIF26A	gene	KIF26A	Expert list;Expert Review Amber	Paediatric pseudo-obstruction syndrome		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156;cortical dysplasia, complex, with other brain malformations 11 MONDO:0859332				19914172;30663199;33542431;36228617;36564622;39305096		False	2	67;0;33	2.5	False		ENSG00000066735	ENSG00000066735	HGNC:20226													
RAD21	gene	RAD21	Expert list;Expert Review Amber	Paediatric pseudo-obstruction syndrome		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Mungan syndrome, OMIM:611376				14638363;21832993;25575569;31848803;32687945		False	2	0;100;0	2.5	False		ENSG00000164754	ENSG00000164754	HGNC:9811