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
SMAD2	gene	SMAD2	Expert Review Amber;NHS GMS	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loeys-Dietz syndrome,MONDO:0018954				29707331;26247899;29392890		False	2	0;100;0	3.6	False	Other	ENSG00000175387	ENSG00000175387	HGNC:6768													
SMAD3	gene	SMAD3	Expert list;Expert Review Amber;NHS GMS	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome type 3, OMIM:613795				26493799;15591413;25006744;23161884		False	2	33;67;0	3.6	False		ENSG00000166949	ENSG00000166949	HGNC:6769