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
CHRM5	gene	CHRM5	Expert Review Red;Literature	Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related				37213061		False	1	0;0;100	0.145	True		ENSG00000184984	ENSG00000184984	HGNC:1954													
EZH2	gene	EZH2	Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic		Renal and urinary tract disorders	Unknown							False	1	67;0;33	0.145	True		ENSG00000106462	ENSG00000106462	HGNC:3527													
FGF10	gene	FGF10	Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	LADD syndrome;OMIM #149730						False	1	50;0;50	0.145	True		ENSG00000070193	ENSG00000070193	HGNC:3666													
FGFR2	gene	FGFR2	Expert Review Red;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic		Renal and urinary tract disorders	Unknown							False	1	50;0;50	0.145	True		ENSG00000066468	ENSG00000066468	HGNC:3689													
FGFR3	gene	FGFR3	Expert list;Expert Review Green;Expert Review Red	Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	LADD syndrome, MIM#149730						False	1	67;0;33	0.145	True		ENSG00000068078	ENSG00000068078	HGNC:3690													
FOXC2	gene	FOXC2	Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus;OMIM #153400				15523639		False	1	50;0;50	0.145	True		ENSG00000176692	ENSG00000176692	HGNC:3801													
SEMA3A	gene	SEMA3A	Expert Review Red;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic		Renal and urinary tract disorders	Unknown							False	1	50;0;50	0.145	True		ENSG00000075213	ENSG00000075213	HGNC:10723													
SIX1	gene	SIX1	Expert Review Red;Victorian Clinical Genetics Services	Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Branchiootic syndrome 3, MIM#608389;Deafness, autosomal dominant 23, MIM# 605192						False	1	50;0;50	0.145	True		ENSG00000126778	ENSG00000126778	HGNC:10887													
