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
C8orf37	gene	C8orf37	Expert list;Expert Review Amber	Bardet Biedl syndrome		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 21, MIM#617406				27008867;26854863		False	2	0;100;0	1.14	True		ENSG00000156172	ENSG00000156172	HGNC:27232													
IFT57	gene	IFT57	Expert Review Amber;Literature	Bardet Biedl syndrome		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Bardet-Bield syndrome;ciliopathy - MONDO:0005308				PMID:40273360		False	2	0;100;0	1.14	True		ENSG00000114446	ENSG00000114446	HGNC:17367													
