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 Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Monogenic nephrogenic diabetes insipidus			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Diabetes insipidus, nephrogenic, 125800;Nephrogenic Diabetes Insipidus				8140421;7524315;9048343;9649557;9302264;9745427;11929850;12050236;15509592		False	3	100;0;0	1.12	False		ENSG00000167580	ENSG00000167580	HGNC:634													
AVPR2	gene	AVPR2	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Monogenic nephrogenic diabetes insipidus			X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Diabetes insipidus, nephrogenic, 304800;Nephrogenic Diabetes Insipidus;Diabetes Insipidus, Nephrogenic, X-Linked;nephrogenic diabetes insipidus (commonest cause, affected females also reported often with a milder and later presentation)				18726898;27565746;27117808;26974133;26828532		False	3	100;0;0	1.12	False		ENSG00000126895	ENSG00000126895	HGNC:897													
AVP	gene	AVP	Expert Review Red;Radboud University Medical Center, Nijmegen	Monogenic nephrogenic diabetes insipidus			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diabetes insipidus,neurohypophyseal,125700						False	1	0;0;0	1.12	False		ENSG00000101200	ENSG00000101200	HGNC:894													
SLC12A1	gene	SLC12A1	Expert Review Red;Literature	Monogenic nephrogenic diabetes insipidus			BIALLELIC, autosomal or pseudoautosomal	Bartter syndrome, type 1, OMIM:601678;Bartter disease type 1, MONDO:0100344				8640224;9355073;28095294;32506365		False	1	0;50;50	1.12	False		ENSG00000074803	ENSG00000074803	HGNC:10910													
WFS1	gene	WFS1	Expert Review Red;UKGTN	Monogenic nephrogenic diabetes insipidus			BIALLELIC, autosomal or pseudoautosomal	Wolfram syndrome-1;Wolfram syndrome, central/neurogenic diabetes insipidus only						False	1	0;0;100	1.12	False		ENSG00000109501	ENSG00000109501	HGNC:12762