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
CYP17A1	gene	CYP17A1	UKGTN	Congenital adrenal hypoplasia		Endocrinology		Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency;hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess				24593890 (article in Spanish)		False	1	0;0;100	4.11	False		ENSG00000148795	ENSG00000148795	HGNC:2593													
CYP21A2	gene	CYP21A2	UKGTN	Congenital adrenal hypoplasia		Endocrinology		Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency						False	1	0;0;100	4.11	False		ENSG00000231852	ENSG00000231852	HGNC:2600													
HSD3B2	gene	HSD3B2	Expert list;Expert Review Red	Congenital adrenal hypoplasia		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Adrenal hyperplasia, Congenital, Due To 3-beta-Hydroxysteroid Dehydrogenase Deficiency type 2 with or without salt-loss;variabe effects on sex steroid synthesis;Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 201810						False	1	0;0;100	4.11	False		ENSG00000203859	ENSG00000203859	HGNC:5218													
KDM1A	gene	KDM1A	Expert Review;Expert Review Red	Congenital adrenal hypoplasia		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728;congenital adrenal hyperplasia, MONDO:0018479				34906447		False	1	50;0;50	4.11	False		ENSG00000004487	ENSG00000004487	HGNC:29079													
POMC	gene	POMC	Radboud University Medical Center, Nijmegen	Congenital adrenal hypoplasia		Endocrinology		Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; {Obesity, early-onset, susceptibility to}, 601665						False	1	0;0;100	4.11	False		ENSG00000115138	ENSG00000115138	HGNC:9201													
TXNRD2	gene	TXNRD2	Expert list;Expert Review Red	Congenital adrenal hypoplasia		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Familial glucocorticoid deficiency				PMC4207928;24601690		False	1	0;0;100	4.11	False		ENSG00000184470	ENSG00000184470	HGNC:18155