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
BMP4	gene	BMP4	Expert list;Expert Review Amber	CAKUT	Structural renal and urinary tract disease	Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CAKUT;renal maldevelopment;congenital renal dysplasia;Congenital Anomaly of the Kidneys and Urinary Tract				30568244;24131739;23641053;19685083;18305125;18233958		False	2	50;0;50	1.182	True		ENSG00000125378	ENSG00000125378	HGNC:1071													
CENPF	gene	CENPF	Expert list;Expert Review Amber	CAKUT	Structural renal and urinary tract disease	Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Stromme syndrome, OMIM:243605				25564561;26820108;27300082		False	2	100;0;0	1.182	False		ENSG00000117724	ENSG00000117724	HGNC:1857													
EXOC3L2	gene	EXOC3L2	Expert Review Amber;Literature	CAKUT	Structural renal and urinary tract disease	Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Brain malformation renal syndrome, OMIM:620943				30327448;28749478;27894351		False	2	100;0;0	1.182	False		ENSG00000130201	ENSG00000283632	HGNC:30162													
FGF20	gene	FGF20	Expert list;Expert Review Amber	CAKUT	Structural renal and urinary tract disease	Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	?Renal hypodysplasia/aplasia 2, 615721				22698282;23112089		False	2	0;100;0	1.182	False		ENSG00000078579	ENSG00000078579	HGNC:3677													
HS2ST1	gene	HS2ST1	Expert Review Amber;Literature	CAKUT	Structural renal and urinary tract disease	Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Intellectual disability;dysmorphic features;congenital anomalies				33159882		False	2	0;100;0	1.182	False		ENSG00000153936	ENSG00000153936	HGNC:5193													
SALL4	gene	SALL4	Expert Review Amber;Literature	CAKUT	Structural renal and urinary tract disease	Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Duane-radial ray syndrome, 607323				PMID: 20301547		False	2	0;0;0	1.182	False		ENSG00000101115	ENSG00000101115	HGNC:15924													
SLIT2	gene	SLIT2	Expert list;Expert Review Amber	CAKUT	Structural renal and urinary tract disease	Renal and urinary tract disorders						26026792		False	2	50;0;50	1.182	True		ENSG00000145147	ENSG00000145147	HGNC:11086													
WNT5A	gene	WNT5A	Expert list;Expert Review Amber	CAKUT	Structural renal and urinary tract disease	Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Robinow syndrome, autosomal dominant 1, MIM#180700				27002738;31032853		False	2	100;0;0	1.182	False		ENSG00000114251	ENSG00000114251	HGNC:12784													
