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
GRK2	gene	GRK2	Expert Review Amber;Literature	Skeletal ciliopathies		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Jeune syndrome, MONDO:0018770				33200460		False	2	0;100;0	6.12	False		ENSG00000173020	ENSG00000173020	HGNC:289													
PDIA6	gene	PDIA6	Expert Review Amber;Literature	Skeletal ciliopathies		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes				33495992		False	2	0;100;0	6.12	False		ENSG00000143870	ENSG00000143870	HGNC:30168													
RSG1	gene	RSG1	Expert Review Amber;Literature	Skeletal ciliopathies		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	ciliopathy, MONDO:0005308;polydactyly, MONDO:0021003				29038301;40593758		False	2	100;0;0	6.12	False		ENSG00000132881	ENSG00000132881	HGNC:28127													
SCNM1	gene	SCNM1	Expert Review Amber;Literature	Skeletal ciliopathies		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome XIX, OMIM:620107;orofaciodigital syndrome 19, MONDO:0859310				36084634;41291844		False	2	100;0;0	6.12	False		ENSG00000163156	ENSG00000163156	HGNC:23136													
SUFU	gene	SUFU	Expert list;Expert Review Amber	Skeletal ciliopathies		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 32, OMIM:617757				28965847		False	2	33;67;0	6.12	False		ENSG00000107882	ENSG00000107882	HGNC:16466