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	2.2	True		ENSG00000131620	ENSG00000131620	HGNC:21625													
GRWD1	gene	GRWD1	Expert Review Amber;Literature	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital diarrhoea MONDO:0000824				40174224		False	2	0;100;0	2.2	True		ENSG00000105447	ENSG00000105447	HGNC:21270													
MON1A	gene	MON1A	Expert Review Amber;Literature	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital diarrhea MONDO:0000824				40174224		False	2	0;100;0	2.2	True		ENSG00000164077	ENSG00000164077	HGNC:28207													
PNLIP	gene	PNLIP	Expert Review;Expert Review Amber	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Pancreatic lipase deficiency MIM#614338				31977950;25862608;24262094;27604308;40840699		False	2	0;100;0	2.2	True		ENSG00000175535	ENSG00000175535	HGNC:9155													
SLC10A2	gene	SLC10A2	Expert Review Amber;Victorian Clinical Genetics Services	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Bile acid malabsorption, primary, MIM# 613291				9109432;40814585		False	2	0;100;0	2.2	True		ENSG00000125255	ENSG00000125255	HGNC:10906