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
ATP2A2	gene	ATP2A2	Expert Review Amber	Epidermolysis bullosa and congenital skin fragility		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Darier disease, OMIM:124200;Acrokeratosis verruciformis, OMIM:101900;Darier disease, MONDO:0007417;acrokeratosis verruciformis, MONDO:0007048				10080178;10441325;35283639;38791022;38536168		False	2	67;33;0	2.13	False		ENSG00000174437	ENSG00000174437	HGNC:812													
CD151	gene	CD151	Expert Review Amber	Epidermolysis bullosa and congenital skin fragility		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057				29138120		False	2	0;50;50	2.13	False		ENSG00000177697	ENSG00000177697	HGNC:1630													
CTSB	gene	CTSB	Expert Review Amber	Epidermolysis bullosa and congenital skin fragility		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	2	0;100;0	2.13	False		ENSG00000164733	ENSG00000164733	HGNC:2527													
DSC3	gene	DSC3	Expert Review Amber	Epidermolysis bullosa and congenital skin fragility		Dermatology	BIALLELIC, autosomal or pseudoautosomal	?Hypotrichosis and recurrent skin vesicles, OMIM:613102				19765682;31790667		False	2	0;100;0	2.13	False		ENSG00000134762	ENSG00000134762	HGNC:3037													
NAXD	gene	NAXD	Expert list;Expert Review Amber	Epidermolysis bullosa and congenital skin fragility		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321				30576410;33224489;31755961		False	2	50;50;0	2.13	False		ENSG00000213995	ENSG00000213995	HGNC:25576													
PLOD3	gene	PLOD3	Expert Review Amber	Epidermolysis bullosa and congenital skin fragility		Dermatology	BIALLELIC, autosomal or pseudoautosomal					30463024;18834968		False	2	0;100;0	2.13	False		ENSG00000106397	ENSG00000106397	HGNC:9083													
SLC39A7	gene	SLC39A7	Expert Review Amber	Epidermolysis bullosa and congenital skin fragility		Dermatology								False	2	0;100;0	2.13	False		ENSG00000112473	ENSG00000112473	HGNC:4927