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
JAG1	gene	JAG1	Expert Review Green;Victorian Clinical Genetics Services	Alagille syndrome		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alagille syndrome, MIM# 1 118450						False	3	100;0;0	1.0	True		ENSG00000101384	ENSG00000101384	HGNC:6188													
NOTCH2	gene	NOTCH2	Expert Review Green;Victorian Clinical Genetics Services	Alagille syndrome		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alagille syndrome 2, MIM# 610205						False	3	100;0;0	1.0	True		ENSG00000134250	ENSG00000134250	HGNC:7882