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
DDX59	gene	DDX59	Expert Review;Expert Review Amber	Thoracic dystrophies	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	"Orofaciodigital syndrome V 	174300;ORPHA:2919  Orofaciodigital syndrome type 5"				23972372		False	2	67;33;0	1.24	False		ENSG00000118197	ENSG00000118197	HGNC:25360													
INTU	gene	INTU	Expert Review;Expert Review Amber	Thoracic dystrophies	Skeletal dysplasias	Skeletal disorders		SRPS				28289185;25774014;20067783		False	2	100;0;0	1.24	False		ENSG00000164066	ENSG00000164066	HGNC:29239													
TMEM107	gene	TMEM107	Expert Review;Expert Review Amber	Thoracic dystrophies	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel-Gruber syndrome;Orofaciodigital syndrome				26595381;26518474;26123494;28289185;24901346		False	2	0;0;100	1.24	False		ENSG00000179029	ENSG00000179029	HGNC:28128