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
AP1S1	gene	AP1S1	Expert Review Red;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Non-syndromic congenital intestinal failure;MEDNIK syndrome, OMIM:609313				32306098;15668823;19057675;23423674;30244301		False	1	50;0;50	3.19	False		ENSG00000106367	ENSG00000106367	HGNC:559													
CYP7A1	gene	CYP7A1	Expert Review Red;NHS GMS;Other	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Bile acid synthesis defect, congenital, 3;Neonatal and Adult Cholestasis				9802883;26333513;35390434		False	1	20;20;60	3.19	False		ENSG00000167910	ENSG00000167910	HGNC:2651													
GALK1	gene	GALK1	Expert Review;Expert Review Red;NHS GMS	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Galactokinase deficiency with cataracts, OMIM:230200;MONDO:0009255 Edit				33413482;28108845		False	1	0;67;33	3.19	False		ENSG00000108479	ENSG00000108479	HGNC:4118													
PPM1F	gene	PPM1F	Expert Review Red;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	sclerosing cholangitis;short stature;hypothyroidism;abnormal tongue pigmentation				30250217;30976738		False	1	0;0;100	3.19	False		ENSG00000100034	ENSG00000100034	HGNC:19388													
RINT1	gene	RINT1	Expert Review Red;Literature;NHS GMS	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Infantile liver failure syndrome 3 OMIM:618641;infantile liver failure syndrome 3 MONDO:0032844				31204009		False	1	50;0;50	3.19	False		ENSG00000135249	ENSG00000135249	HGNC:21876													
SLC51A	gene	SLC51A	Expert Review Red;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	?Cholestasis, progressive familial intrahepatic, 6, OMIM:619484				31863603		False	1	0;0;100	3.19	False		ENSG00000163959	ENSG00000163959	HGNC:29955													
WDR83OS	gene	WDR83OS	Expert Review Red;Literature	Cholestasis		Gastrohepatology	BIALLELIC, autosomal or pseudoautosomal	Cholestasis				30250217		False	1	0;0;100	3.19	False		ENSG00000105583	ENSG00000105583	HGNC:30203