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
CASR	gene	CASR	Expert list;Expert Review;Expert Review Green	Parathyroid Tumour		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tumor of parathyroid gland, MONDO:0021360;Familial hypocalciuric hypercalcemia 1, MONDO:0007791;Hypocalciuric hypercalcemia, type I, MIM#145980;Hypocalcemia, autosomal dominant, MIM#601198			Neoplasm of the parathyroid gland;HP:0100733			False	3	100;0;0	1.2	True		ENSG00000036828	ENSG00000036828	HGNC:1514													
CDC73	gene	CDC73	Expert list;Expert Review;Expert Review Green	Parathyroid Tumour		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tumor of parathyroid gland, MONDO:0021360;Hyperparathyroidism 2 with jaw tumors, MONDO:0007768;Hyperparathyroidism-jaw tumor syndrome, MIM#145001;Hyperparathyroidism, familial primary, MIM#145000			Neoplasm of the parathyroid gland;HP:0100733			False	3	100;0;0	1.2	True		ENSG00000134371	ENSG00000134371	HGNC:16783													
CDKN1B	gene	CDKN1B	Expert list;Expert Review;Expert Review Green	Parathyroid Tumour		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tumor of parathyroid gland, MONDO:0021360;Multiple endocrine neoplasia type 4, MONDO:0012552;Multiple endocrine neoplasia, type 4, MIM#610755			Neoplasm of the parathyroid gland;HP:0100733			False	3	100;0;0	1.2	True		ENSG00000111276	ENSG00000111276	HGNC:1785													
GCM2	gene	GCM2	Expert list;Expert Review;Expert Review Green;Literature	Parathyroid Tumour		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tumor of parathyroid gland, MONDO:0021360;Hyperparathyroidism 4, MONDO:0024570;Hyperparathyroidism 4, MIM#617343			Neoplasm of the parathyroid gland;HP:0100733	PMID: 27745835, 34967908, 33471711, 29108698		False	3	100;0;0	1.2	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000124827	ENSG00000124827	HGNC:4198													
MEN1	gene	MEN1	Expert list;Expert Review;Expert Review Green	Parathyroid Tumour		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tumor of parathyroid gland, MONDO:0021360;Multiple endocrine neoplasia type 1, MONDO:0007540;Multiple endocrine neoplasia, type 1, MIM#131100			Neoplasm of the parathyroid gland;HP:0100733			False	3	100;0;0	1.2	True		ENSG00000133895	ENSG00000133895	HGNC:7010													
RET	gene	RET	Expert list;Expert Review;Expert Review Green	Parathyroid Tumour		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Tumor of parathyroid gland, MONDO:0021360;Multiple endocrine neoplasia type 2A, MONDO:0008234;Multiple endocrine neoplasia type 2B, MONDO:0008082;Multiple endocrine neoplasia, type 2A, MIM#171400;Multiple endocrine neoplasia, type 2B, MIM#162300;Pheochromocytoma, MIM#171300;Medullary thyroid carcinoma, MIM#155240;Pheochromocytoma, susceptibility to, MIM#171300			Neoplasm of the parathyroid gland;HP:0100733			False	3	100;0;0	1.2	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000165731	ENSG00000165731	HGNC:9967