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	Intestinal failure or congenital diarrhoea		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Impaired intestinal peristalsis;Haemorrhagic diarrhoea;Dysmorphic features				32487539		False	2	0;100;0	3.11	False		ENSG00000131620	ENSG00000131620	HGNC:21625													
AP1B1	gene	AP1B1	Expert Review Amber;Literature	Intestinal failure or congenital diarrhoea		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150;KID syndrome, MONDO:0018781				32969855;31630791		False	2	0;100;0	3.11	False		ENSG00000100280	ENSG00000100280	HGNC:554													
PSMB10	gene	PSMB10	Expert Review Amber;Literature	Intestinal failure or congenital diarrhoea		Gastrohepatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Immunodeficiency 121 with autoinflammation, OMIM:620807				31783057;36250618;37600812;38503300;39734035		False	2	100;0;0	3.11	False		ENSG00000205220	ENSG00000205220	HGNC:9538