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
CARD14	gene	CARD14	Expert Review Red	Epidermolysis bullosa and congenital skin fragility		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pityriasis rubra pilaris, OMIM:173200;Thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region						False	1	0;0;100	2.13	False		ENSG00000141527	ENSG00000141527	HGNC:16446													
CHST8	gene	CHST8	Expert Review Red	Epidermolysis bullosa and congenital skin fragility		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Ichthyosis HP:0008064;Peeling skin HP:0040189;OMIM:#616265;?Peeling skin syndrome 3, 616265				PMID: 22289416		False	1	0;0;100	2.13	False		ENSG00000124302	ENSG00000124302	HGNC:15993													
DSG3	gene	DSG3	Expert Review Red;NHS GMS	Epidermolysis bullosa and congenital skin fragility		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226				30528827;16403096;19678820		False	1	33;33;33	2.13	False		ENSG00000134757	ENSG00000134757	HGNC:3050													
EDA	gene	EDA	Expert Review Red	Epidermolysis bullosa and congenital skin fragility		Dermatology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Skin peeling/scaling (newborn);Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100						False	1	0;0;100	2.13	False		ENSG00000158813	ENSG00000158813	HGNC:3157													
EGFR	gene	EGFR	Expert Review Red	Epidermolysis bullosa and congenital skin fragility		Dermatology	BIALLELIC, autosomal or pseudoautosomal	?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069				24691054		False	1	0;50;50	2.13	False		ENSG00000146648	ENSG00000146648	HGNC:3236													
KRT2	gene	KRT2	Expert Review Red	Epidermolysis bullosa and congenital skin fragility		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ichthyosis bullosa of Siemens, 146800;blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis						False	1	0;0;100	2.13	False		ENSG00000172867	ENSG00000172867	HGNC:6439													
MMP1	gene	MMP1	Expert Review Red	Epidermolysis bullosa and congenital skin fragility		Dermatology		{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600;COPD, rate of decline of lung function in, 606963						False	1	0;0;100	2.13	False		ENSG00000196611	ENSG00000196611	HGNC:7155													
SPINK5	gene	SPINK5	Expert Review Red;NHS GMS	Epidermolysis bullosa and congenital skin fragility		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Netherton syndrome, OMIM:256500				27905021		False	1	33;0;67	2.13	False		ENSG00000133710	ENSG00000133710	HGNC:15464													
TP63	gene	TP63	Expert Review Red	Epidermolysis bullosa and congenital skin fragility		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hay-Wells syndrome, 106260;Red, cracking, peeling skin at birth						False	1	0;0;100	2.13	False		ENSG00000073282	ENSG00000073282	HGNC:15979													
TRPV3	gene	TRPV3	Expert Review Red	Epidermolysis bullosa and congenital skin fragility		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	superficial peeling of the skin;Olmsted syndrome, 614594						False	1	0;0;100	2.13	False		ENSG00000167723	ENSG00000167723	HGNC:18084