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
ABCA3	gene	ABCA3	Expert Review Green;NHS GMS	Surfactant deficiency		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Surfactant metabolism dysfunction, pulmonary 3, OMIM:610921				15044640;17719949		False	3	100;0;0	1.12	False		ENSG00000167972	ENSG00000167972	HGNC:33													
NKX2-1	gene	NKX2-1	Expert Review Green;NHS GMS	Surfactant deficiency		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neuroendocrine cell hyperplasia of infancy;Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978				23787483;15289765		False	3	100;0;0	1.12	False		ENSG00000136352	ENSG00000136352	HGNC:11825													
SFTPB	gene	SFTPB	Expert Review Green;NHS GMS	Surfactant deficiency		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Surfactant metabolism dysfunction, pulmonary 1, OMIM:265120				8163685;12501227;10712351		False	3	100;0;0	1.12	False		ENSG00000168878	ENSG00000168878	HGNC:10801													
SFTPC	gene	SFTPC	Expert Review Green;NHS GMS	Surfactant deficiency		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Surfactant metabolism dysfunction, pulmonary 2, OMIM:610913				11207353;19443464		False	3	100;0;0	1.12	False		ENSG00000168484	ENSG00000168484	HGNC:10802													
SFTPA2	gene	SFTPA2	Expert list;Expert Review Amber	Surfactant deficiency		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary fibrosis, idiopathic, OMIM:178500				19100526;26568241		False	2	0;100;0	1.12	False		ENSG00000185303	ENSG00000185303	HGNC:10799