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
ACVRL1	gene	ACVRL1	Expert Review Green;Royal Melbourne Hospital	Hereditary Haemorrhagic Telangiectasia		Vascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	telangiectasia;pulmonary arterial hypertension;epistaxis;pulmonary arteriovenous malformation;cerebral pulmonary arteriovenous malformation;hepatic arteriovenous malformation;Telangiectasia, hereditary hemorrhagic, type 2 600376			Telangiectasia;HP:0001009	16542389		False	3	100;0;0	1.5	True		ENSG00000139567	ENSG00000139567	HGNC:175													
ENG	gene	ENG	Expert Review Green;Royal Melbourne Hospital	Hereditary Haemorrhagic Telangiectasia		Vascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 1, 187300;Gastrointestinal telangiectasia (HP:0002604);Palate telangiectasia (HP:0002707);Lip telangiectasia (HP:0000214);Pulmonary arteriovenous malformation (HP:0006548);Nasal mucosa telangiectasia (HP:0000434);Tongue telangiectasia (HP:0000227);Epistaxis (HP:0000421);Cerebral arteriovenous malformation (HP:0002408);Hepatic arteriovenous malformation (HP:0006574;Spinal arteriovenous malformation (HP:0002390););Finger pad telangiectasia (pulp not nail side);Arteriovenous malformation (HP:0100026)			Telangiectasia;HP:0001009			False	3	100;0;0	1.5	True		ENSG00000106991	ENSG00000106991	HGNC:3349													
EPHB4	gene	EPHB4	Expert Review Green;Royal Melbourne Hospital	Hereditary Haemorrhagic Telangiectasia		Vascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation-2, MIM# 618196			Telangiectasia;HP:0001009			False	3	100;0;0	1.5	True		ENSG00000196411	ENSG00000196411	HGNC:3395													
GDF2	gene	GDF2	Expert Review Green;Royal Melbourne Hospital	Hereditary Haemorrhagic Telangiectasia		Vascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Telangiectasia, hereditary hemorrhagic, type 5 615506;pulmonary arteriovenous malformations			Telangiectasia;HP:0001009	23972370;27081547;32573726;32992168;34611981;33834622;32669404;26056270;23972370;https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356		False	3	33;33;33	1.5	True		ENSG00000128802	ENSG00000263761	HGNC:4217													
RASA1	gene	RASA1	Expert Review Green;Royal Melbourne Hospital	Hereditary Haemorrhagic Telangiectasia		Vascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation 608354			Telangiectasia;HP:0001009	27081547;29891884;30507091;32900839		False	3	100;0;0	1.5	True		ENSG00000145715	ENSG00000145715	HGNC:9871													
SMAD4	gene	SMAD4	Expert Review Green;Royal Melbourne Hospital	Hereditary Haemorrhagic Telangiectasia		Vascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050			Telangiectasia;HP:0001009	16613914		False	3	100;0;0	1.5	True		ENSG00000141646	ENSG00000141646	HGNC:6770