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
CSTB	gene	CSTB	Expert Review Amber;Literature	Epidermolysis bullosa		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Keratolytic winter erythema	(MIM#148370)"			Abnormal blistering of the skin;HP:0008066	28457472		False	2	0;50;50	1.27	True		ENSG00000160213	ENSG00000160213	HGNC:2482													
DSC3	gene	DSC3	Expert Review Amber;Literature	Epidermolysis bullosa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	"Hypotrichosis and recurrent skin vesicles (MIM# 	613102)"			Abnormal blistering of the skin;HP:0008066	19765682;20159115;24690439;31790667		False	2	0;100;0	1.27	True		ENSG00000134762	ENSG00000134762	HGNC:3037													
DSG3	gene	DSG3	Expert list;Expert Review Amber	Epidermolysis bullosa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226			Abnormal blistering of the skin;HP:0008066	26763450;37850634;30528827		False	2	0;50;50	1.27	True		ENSG00000134757	ENSG00000134757	HGNC:3050													
JUP	gene	JUP	Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Epidermolysis bullosa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Naxos disease MIM#601214;Congenital epidermolysis bullosa			Abnormal blistering of the skin;HP:0008066	21320868;29173316		False	2	50;50;0	1.27	True		ENSG00000173801	ENSG00000173801	HGNC:6207													
PLOD3	gene	PLOD3	Expert Review Amber;Literature	Epidermolysis bullosa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Blistering skin lesions			Abnormal blistering of the skin;HP:0008066	18834968;30463024		False	2	0;100;0	1.27	True		ENSG00000106397	ENSG00000106397	HGNC:9083													
SERPINB8	gene	SERPINB8	Expert list;Expert Review Amber	Epidermolysis bullosa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Peeling skin syndrome 5 (MIM#617115)			Abnormal blistering of the skin;HP:0008066	27476651		False	2	0;100;0	1.27	True		ENSG00000166401	ENSG00000166401	HGNC:8952