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
CTGF	gene	CTGF	Expert Review Amber;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Kyphomelic dysplasia MONDO:0008881				39506047		False	2	0;100;0	0.250	True		ENSG00000118523	ENSG00000118523	HGNC:2500													
DHCR24	gene	DHCR24	Expert list;Expert Review Amber;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Desmosterolosis, MONDO:0011217				PMID: 21671375		False	2	50;50;0	0.250	True		ENSG00000116133	ENSG00000116133	HGNC:2859													
DNMT3A	gene	DNMT3A	Expert Review Amber;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Heyn-Sproul-Jackson syndrome, MIM# 618724				30478443		False	2	0;100;0	0.250	True		ENSG00000119772	ENSG00000119772	HGNC:2978													
NPR2	gene	NPR2	Expert list;Expert Review Amber;Literature	Skeletal Dysplasia_Fetal		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Acromesomelic dysplasia 1, Maroteaux type - MIM#602875				31555216;16384845;15146390;22870295;24057292;24259409;16384845;24471569		False	2	50;50;0	0.250	True		ENSG00000159899	ENSG00000159899	HGNC:7944