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
DUOX1	gene	DUOX1	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	congenital hypothyroidism, No OMIM #				PMID: 29650690		False	2	0;0;0	0.43	True		ENSG00000137857	ENSG00000137857	HGNC:3062													
DUOXA1	gene	DUOXA1	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	congenital hypothyroidism, No OMIM #				PMID: 29650690		False	2	0;100;0	0.43	True		ENSG00000140254	ENSG00000140254	HGNC:26507													
GATA6	gene	GATA6	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pancreatic agenesis and congenital heart defects, OMIM# 600001				PMID: 31271559, 32207556		False	2	0;100;0	0.43	True		ENSG00000141448	ENSG00000141448	HGNC:4174													
TTF1	gene	TTF1	Expert Review Amber;Literature	Congenital hypothyroidism	Thyroid disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	congenital hypothyroidism, thyroid dysgenesis, No OMIM #				PMID: 30022773		False	2	0;100;0	0.43	True		ENSG00000125482	ENSG00000125482	HGNC:12397