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
PHOX2B	gene	PHOX2B	Expert Review Green;NHS GMS	Central congenital hypoventilation		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital central hypoventilation syndrome, OMIM:209880;central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026						False	3	100;0;0	1.7	False		ENSG00000109132	ENSG00000109132	HGNC:9143