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
ABAT	gene	ABAT	Expert Review Red;Victorian Clinical Genetics Services	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	GABA-transaminase deficiency, MIM# 613163						False	1	0;0;100	2.2	True		ENSG00000183044	ENSG00000183044	HGNC:23													
ACSL5	gene	ACSL5	Expert Review Red;Literature	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	"Diarrhoea 13, MIM# 	620357"				33191500		False	1	0;0;100	2.2	True		ENSG00000197142	ENSG00000197142	HGNC:16526													
EZR	gene	EZR	Expert Review Red;Literature	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital enteropathy, MONDO:0009173, EZR-related				40137958		False	1	0;0;100	2.2	True		ENSG00000092820	ENSG00000092820	HGNC:12691													
MYO1A	gene	MYO1A	Expert Review Red;Literature	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital diarrhea, MONDO:0000824				40174224		False	1	0;100;0	2.2	True		ENSG00000166866	ENSG00000166866	HGNC:7595													
SLC2A2	gene	SLC2A2	Expert Review Red;Victorian Clinical Genetics Services	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi-Bickel syndrome, MIM# 227810						False	1	0;0;100	2.2	True		ENSG00000163581	ENSG00000163581	HGNC:11006													
SLC51A	gene	SLC51A	Expert Review Red;Literature	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic, 6, MIM# 619484				31863603		False	1	0;0;100	2.2	True		ENSG00000163959	ENSG00000163959	HGNC:29955													
SLC51B	gene	SLC51B	Expert Review;Expert Review Red	Congenital Diarrhoea		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Bile acid malabsorption, primary, 2, MIM# 619481;Congenital diarrhoea;Cholestasis				28898457		False	1	0;0;100	2.2	True		ENSG00000186198	ENSG00000186198	HGNC:29956