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
CDX1	gene	CDX1	Expert Review Green;Literature	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	anorectal malformation				23329892;27042391		False	3	0;0;0	1.14	False		ENSG00000113722	ENSG00000113722	HGNC:1805													
FAM58A	gene	FAM58A	Expert list;Expert Review Green	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	anorectal malformation;STAR syndrome 300707				18297069;8818947;28225384;28322501;29088509;26225595		False	3	0;0;0	1.14	False		ENSG00000147382	ENSG00000262919	HGNC:28434													
FANCB	gene	FANCB	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;UKGTN	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Vacterl Association, X-Linked, With Or Without Hydrocephalus;anorectal malformation;VACTERL Association with Hydrocephalus;Fanconi anemia, complementation group B 300514;FANCB-RELATED FANCONI ANEMIA				29232005;24416387;26683739		False	3	100;0;0	1.14	False		ENSG00000181544	ENSG00000181544	HGNC:3583													
FOXF1	gene	FOXF1	Expert list;Expert Review Green;Literature	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	anorectal malformation;VATER/VACTERL-like;VATER/VACTERL;Alveolar capillary dysplasia with misalignment of pulmonary veins 265380				26294094;19500772;23505205;30058937		False	3	0;0;0	1.14	False		ENSG00000103241	ENSG00000103241	HGNC:3809													
GLI3	gene	GLI3	Expert list;Expert Review Green	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	anorectal malformation;Pallister-Hall syndrome 146510				9054938;10945658;1693785;21108399;29204208		False	3	100;0;0	1.14	False		ENSG00000106571	ENSG00000106571	HGNC:4319													
MED12	gene	MED12	Expert list;Expert Review Green	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	anorectal malformation;Opitz-Kaveggia syndrome 305450;FG SYNDROME 1;FG SYNDROME				17334363;18691967		False	3	100;0;0	1.14	False		ENSG00000184634	ENSG00000184634	HGNC:11957													
MID1	gene	MID1	Expert list;Expert Review Green	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Opitz GBBB syndrome, type I 300000;OPITZ G/BBB SYNDROME, X-LINKED				9354791;11030761;15121778;12833403;15558842		False	3	50;50;0	1.14	False		ENSG00000101871	ENSG00000101871	HGNC:7095													
MNX1	gene	MNX1	Expert list;Expert Review Green	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	anorectal malformation;Currarino syndrome 176450				10631160;10749657;11528505;15216552;16906559		False	3	100;0;0	1.14	False		ENSG00000130675	ENSG00000130675	HGNC:4979													
RECQL4	gene	RECQL4	Expert Review Green;Other	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Baller-Gerold syndrome, OMIM:218600;Rothmund-Thomson syndrome, type 2, OMIM:268400				15964893;28358413;24635570;22347665;1583650;19291770		False	3	0;0;0	1.14	False		ENSG00000160957	ENSG00000160957	HGNC:9949													
SALL1	gene	SALL1	Expert Review Green;Literature	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Townes-Brocks syndrome 1 107480						False	3	50;50;0	1.14	False		ENSG00000103449	ENSG00000103449	HGNC:10524													
ZIC3	gene	ZIC3	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Other	Non-syndromic familial congenital anorectal malformations	Gastrointestinal disorders	Gastroenterological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	anorectal malformation;VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS;VACTERL Association, X-linked 314390;VACTERLX 314390				26294094;14681828;20452998;21465648		False	3	100;0;0	1.14	False		ENSG00000156925	ENSG00000156925	HGNC:12874