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
CASK	gene	CASK	Expert list;Expert Review Amber	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	anorectal malformation;FG syndrome 4 300422				19200522;28139025;20029458;25886057;22452838		False	2	100;0;0	1.14	False		ENSG00000147044	ENSG00000147044	HGNC:1497													
CDX2	gene	CDX2	Expert Review Amber;Literature	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	persistent cloaca				19386267;27042391		False	2	0;0;100	1.14	False		ENSG00000165556	ENSG00000165556	HGNC:1806													
MYCN	gene	MYCN	Expert list;Expert Review Amber	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	anorectal malformation;Feingold syndrome 1 164280				18470948;15821734		False	2	100;0;0	1.14	False		ENSG00000134323	ENSG00000134323	HGNC:7559													
MYH14	gene	MYH14	Expert Review Amber;Literature	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	ARM with recto-perineal fistulas				28191911		False	2	0;0;0	1.14	False		ENSG00000105357	ENSG00000105357	HGNC:23212