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
ADAMTS9	gene	ADAMTS9	Expert Review Amber;Literature	Renal Ciliopathies and Nephronophthisis		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related			Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107	PMID:30609407		False	2	50;50;0	2.0	True		ENSG00000163638	ENSG00000163638	HGNC:13202													
B9D2	gene	B9D2	Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Ciliopathies and Nephronophthisis		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 10, MIM# 614175			Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107	21763481		False	2	0;100;0	2.0	True		ENSG00000123810	ENSG00000123810	HGNC:28636													
CEP120	gene	CEP120	Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Ciliopathies and Nephronophthisis		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300			Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107			False	2	50;50;0	2.0	True		ENSG00000168944	ENSG00000168944	HGNC:26690													
CEP41	gene	CEP41	Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Ciliopathies and Nephronophthisis		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 15, MIM# 614464			Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107	22246503		False	2	0;100;0	2.0	True		ENSG00000106477	ENSG00000106477	HGNC:12370													
CYS1	gene	CYS1	Expert Review Amber;Literature	Renal Ciliopathies and Nephronophthisis		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease, MONDO:0020642			Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107	34521872		False	2	0;100;0	2.0	True		ENSG00000205795	ENSG00000205795	HGNC:18525													
DDX59	gene	DDX59	Expert Review;Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Ciliopathies and Nephronophthisis		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome V (MIM#174300)			Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107	29127725;23972372;28711741		False	2	50;50;0	2.0	True		ENSG00000118197	ENSG00000118197	HGNC:25360													
ICK	gene	ICK	Expert list;Expert Review Amber	Renal Ciliopathies and Nephronophthisis		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	"Endocrine-cerebroosteodysplasia, MIM#	612651;Cranioectodermal dysplasia 6, MIM# 621337"			Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107	19185282;27069622;40615527;24797473		False	2	33;33;33	2.0	True		ENSG00000112144	ENSG00000112144	HGNC:21219													
TMEM107	gene	TMEM107	Expert Review;Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Ciliopathies and Nephronophthisis		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 13 (MIM#617562);Orofaciodigital syndrome XVI (MIM#617563)			Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107	26595381;26123494		False	2	0;100;0	2.0	True		-	-	HGNC:28128													
ZNF423	gene	ZNF423	Expert Review;Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Ciliopathies and Nephronophthisis		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM# 614844			Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107	22863007		False	2	0;100;0	2.0	True		-	-	HGNC:16762