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
ALPI	gene	ALPI	Expert list;Expert Review Amber	Inflammatory bowel disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Inflammatory bowel disease, MONDO:0005265, ALPI-related			Gastrointestinal inflammation;HP:0004386	29567797;32084423		False	2	0;100;0	0.122	True		ENSG00000163295	ENSG00000163295	HGNC:437													
C17orf62	gene	C17orf62	Expert Review;Expert Review Amber	Inflammatory bowel disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Chronic granulomatous disease			Gastrointestinal inflammation;HP:0004386	28600779, 30361506		False	2	0;100;0	0.122	True		ENSG00000178927	ENSG00000178927	HGNC:28672													
CARD8	gene	CARD8	Expert list;Expert Review Amber	Inflammatory bowel disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inflammatory bowel disease-30, MIM#619079			Gastrointestinal inflammation;HP:0004386	29408806		False	2	0;50;50	0.122	True		ENSG00000105483	ENSG00000105483	HGNC:17057													
EPCAM	gene	EPCAM	Expert Review Amber;Victorian Clinical Genetics Services	Inflammatory bowel disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217			Gastrointestinal inflammation;HP:0004386	27302973		False	2	0;100;0	0.122	True		ENSG00000119888	ENSG00000119888	HGNC:11529													
HSPA1L	gene	HSPA1L	Expert Review Amber;Literature	Inflammatory bowel disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	inflammatory bowel disease, MONDO:0005265, HSPA1L-related			Gastrointestinal inflammation;HP:0004386	28126021		False	2	0;100;0	0.122	True		ENSG00000204390	ENSG00000204390	HGNC:5234													
NLRC4	gene	NLRC4	Expert Review Amber;Literature	Inflammatory bowel disease		Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autoinflammation with infantile enterocolitis, MIM# 616050			Gastrointestinal inflammation;HP:0004386	25217959;25217960		False	2	0;100;0	0.122	True	Other	ENSG00000091106	ENSG00000091106	HGNC:16412													
NOX1	gene	NOX1	Expert Review Amber;Literature	Inflammatory bowel disease		Gastroenterological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Inflammatory bowel disease, MONDO:0005265, NOX1-related			Gastrointestinal inflammation;HP:0004386	PMID: 29091079;32064493		False	2	0;100;0	0.122	True		ENSG00000007952	ENSG00000007952	HGNC:7889													
SLC9A3	gene	SLC9A3	Expert Review;Expert Review Amber	Inflammatory bowel disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Diarrhoea 8, secretory sodium, congenital 616868;Very Early Onset Inflammatory Bowel Disease			Gastrointestinal inflammation;HP:0004386	26358773;33346580		False	2	0;100;0	0.122	True		ENSG00000066230	ENSG00000066230	HGNC:11073													
TGFB1	gene	TGFB1	Expert list;Expert Review Amber	Inflammatory bowel disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213			Gastrointestinal inflammation;HP:0004386	29483653		False	2	0;100;0	0.122	True		ENSG00000105329	ENSG00000105329	HGNC:11766													
ZAP70	gene	ZAP70	Expert Review Amber;Other	Inflammatory bowel disease		Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Autoimmune disease, multisystem, infantile-onset, 2;inflammatory colitis			Gastrointestinal inflammation;HP:0004386	26783323;32819795;32633164		False	2	0;100;0	0.122	True		ENSG00000115085	ENSG00000115085	HGNC:12858													
