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
ANO1	gene	ANO1	Expert Review Amber;Literature	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Intestinal dysmotility syndrome, MIM# 620045;Impaired intestinal peristalsis;haemorrhagic diarrhoea;dysmorphic features				32487539		False	2	0;100;0	1.13	True		ENSG00000131620	ENSG00000131620	HGNC:21625													
AP1S1	gene	AP1S1	Expert Review Amber;Literature	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Non-syndromic congenital intestinal failure				PMID: 32306098		False	2	0;100;0	1.13	True		ENSG00000106367	ENSG00000106367	HGNC:559