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
ELN	gene	ELN	Expert Review Red;Other	Pneumothorax	Structural lung disorders	Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cutis laxa, autosomal dominant 1 MONDO:0007411			Pneumothorax;HP:0002107	30416599;30681372		False	1	0;0;100	1.0	True	Other	ENSG00000049540	ENSG00000049540	HGNC:3327													
FBLN5	gene	FBLN5	Expert Review Red;Other	Pneumothorax	Structural lung disorders	Respiratory disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	cutis laxa MONDO:0016175			Pneumothorax;HP:0002107	21152794;30681372		False	1	0;0;100	1.0	True		ENSG00000140092	ENSG00000140092	HGNC:3602													
LTBP4	gene	LTBP4	Expert Review Red;Other	Pneumothorax	Structural lung disorders	Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170			Pneumothorax;HP:0002107	30681372;35921570		False	1	0;0;100	1.0	True		ENSG00000090006	ENSG00000090006	HGNC:6717