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
AQP2	gene	AQP2	Expert list;Expert Review Green	Diabetes Insipidus		Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Diabetes insipidus, nephrogenic MIM#125800			Polydipsia;HP:0001959; Polyuria;HP:0000103	7524315;20301356;27156763;9649557		False	3	100;0;0	1.3	True		ENSG00000167580	ENSG00000167580	HGNC:634													
AVP	gene	AVP	Expert list;Expert Review Green	Diabetes Insipidus		Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diabetes insipidus, neurohypophyseal MIM#125700			Polydipsia;HP:0001959; Polyuria;HP:0000103	6526016;1840604;8554046		False	3	100;0;0	1.3	True		ENSG00000101200	ENSG00000101200	HGNC:894													
AVPR2	gene	AVPR2	Expert list;Expert Review Green	Diabetes Insipidus		Endocrine disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Diabetes insipidus, nephrogenic MIM#304800			Polydipsia;HP:0001959; Polyuria;HP:0000103	1356229;20301356;27156763		False	3	100;0;0	1.3	True		ENSG00000126895	ENSG00000126895	HGNC:897