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
PTPN14	gene	PTPN14	Expert Review Red;Radboud University Medical Center, Nijmegen	Choanal atresia	Choanal anomalies	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Choanal atresia and lymphedema, 613611				20826270		False	1	0;0;100	1.17	False		ENSG00000152104	ENSG00000152104	HGNC:9647													
SALL4	gene	SALL4	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen	Choanal atresia	Choanal anomalies	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Duane-radial ray syndrome 607323						False	1	0;0;100	1.17	False		ENSG00000101115	ENSG00000101115	HGNC:15924													
SEMA3E	gene	SEMA3E	Expert Review Red;Radboud University Medical Center, Nijmegen	Choanal atresia	Choanal anomalies	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARGE syndrome, 214800						False	1	0;0;100	1.17	False		ENSG00000170381	ENSG00000170381	HGNC:10727