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
ECEL1	gene	ECEL1	Expert Review Amber;Literature	Congenital ophthalmoplegia		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, distal, type 5D - 615065;Congenital cranial dysinnervation disorder				PMID: 25173900		False	2	0;100;0	1.8	True		ENSG00000171551	ENSG00000171551	HGNC:3147													
MYO9A	gene	MYO9A	Expert list;Expert Review Amber	Congenital ophthalmoplegia		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	"Myasthenic syndrome, congenital, 24, presynaptic, MIM#	618198"						False	2	0;100;0	1.8	True		ENSG00000066933	ENSG00000066933	HGNC:7608