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
POLR2C	gene	POLR2C	Expert Review Red;Literature	Congenital hypothyroidism		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	hypothyroidism, MONDO:0005420				34794894;29367954		False	1	0;100;0	3.3	False		ENSG00000102978	ENSG00000102978	HGNC:9189													
SOX3	gene	SOX3	Expert Review Red;Literature	Congenital hypothyroidism		Endocrinology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123;Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252;Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712				12428212;15800844;26416826 (2015 review)		False	1	100;0;0	3.3	False		ENSG00000134595	ENSG00000134595	HGNC:11199