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
GNAS	gene	GNAS	Expert Review Green;NHS GMS	Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pseudohypoparathyroidism Ia, OMIM:103580;Pseudohypoparathyroidism Ib, OMIM:603233;Pseudohypoparathyroidism Ic, OMIM:612462;Pseudopseudohypoparathyroidism, OMIM:612463;pseudohypoparathyroidism type 1A, MONDO:0007078;pseudohypoparathyroidism type 1B, MONDO:0011301;pseudohypoparathyroidism type 1C, MONDO:0012911;pseudopseudohypoparathyroidism, MONDO:0012912						False	3	0;0;0	1.10	False		ENSG00000087460	ENSG00000087460	HGNC:4392													
PDE4D	gene	PDE4D	Expert Review Green;NHS GMS	Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Acrodysostosis 2, with or without hormone resistance, OMIM:614613;acrodysostosis 2 with or without hormone resistance, MONDO:0013822						False	3	0;0;0	1.10	False		ENSG00000113448	ENSG00000113448	HGNC:8783													
PRKAR1A	gene	PRKAR1A	Expert Review Green;NHS GMS	Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Acrodysostosis type 1, OMIM:101800;Acrodysostosis 1 with or without hormone resistance, MONDO:0007044						False	3	0;0;0	1.10	False		ENSG00000108946	ENSG00000108946	HGNC:9388													
STX16	gene	STX16	Expert Review Amber;Literature;NHS GMS	Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pseudohypoparathyroidism Ib, OMIM:603233;pseudohypoparathyroidism type 1B, MONDO:0011301				14561710;15579741;15800843;33320452;32337648;35119251		False	2	25;75;0	1.10	False		ENSG00000124222	ENSG00000124222	HGNC:11431