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
CEP290	gene	CEP290	Expert;Expert Review Amber	Cystic kidney disease		Renal		Ciliopathy genes associated with cystic kidney disease						False	2	100;0;0	8.8	True		ENSG00000198707	ENSG00000198707	HGNC:29021													
COL4A3	gene	COL4A3	Expert Review Amber;Research	Cystic kidney disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cystic kidney disease;proteinuria;haematuria				38178635;35602506		False	2	0;0;100	8.8	False		ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	Expert Review Amber;Other	Cystic kidney disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cystic kidney disease, MONDO:0002473				31922066;38178635		False	2	50;50;0	8.8	False		ENSG00000081052	ENSG00000081052	HGNC:2206													
CYS1	gene	CYS1	Expert Review Amber;Literature	Cystic kidney disease		Renal	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease, MONDO:0020642				34521872		False	2	0;100;0	8.8	False		ENSG00000205795	ENSG00000205795	HGNC:18525													
OFD1	gene	OFD1	Expert;Expert Review Amber	Cystic kidney disease		Renal	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)					10910455;11179005		False	2	50;50;0	8.8	True		ENSG00000046651	ENSG00000046651	HGNC:2567													
SEC61A1	gene	SEC61A1	Expert list;Expert Review;Expert Review Amber	Cystic kidney disease		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	glomerulocystic kidney disease;interstitial nephritis;chronic kidney disease;cystic kidney disease;Hyperuricemic nephropathy, familial juvenile, 4, 617056				31488840;27392076		False	2	50;50;0	8.8	False		ENSG00000058262	ENSG00000058262	HGNC:18276													
ZNF423	gene	ZNF423	Expert;Expert Review Amber	Cystic kidney disease		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844				22863007;32925911;33323469		False	2	0;100;0	8.8	True		ENSG00000102935	ENSG00000102935	HGNC:16762