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
MASP2	gene	MASP2	Expert list;Expert Review Red	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	MASP2-deficiency				"PMID: 18596574 - ""infants later developing Necrotising enterocolitis had significantly higher MASP-2 cord blood levels compared with controls. Higher MASP-2 may favor complement-mediated inflammation and could thereby predispose to Necrotising enterocolitis."";PMID: 19307021 - 362 neonates samples were tested for the D120G variant, and no homozygotes for the variant were found. The variant significantly influenced MASP-2 protein concentration, but not the lectin pathway of complement activity (MBL-MASP-2 complex activity). No association of this SNP was apparent with prematurity, low birthweight or perinatal infections."		False	1	100;0;0	1.45	False		ENSG00000009724	ENSG00000009724	HGNC:6902													
NCF4	gene	NCF4	Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960				19692703 (case report);18580884;19262523;21900546;26289093;21472827;21122541;19262523;17435756		False	1	100;0;0	1.45	False		ENSG00000100365	ENSG00000100365	HGNC:7662													
RIPK2	gene	RIPK2	Expert list;Expert Review Red	Infantile enterocolitis & monogenic inflammatory bowel disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal					"PMID: 20452301 - RIP2 expression levels significantly increased in colonic mucosa of children with ulcerative colitis compared to controls, and was also upregulated (p<0.01) in the ileum of both pancolitis and left-sided colitis children;PMID: 25213858 - Using these markers and the FDA-approved RIPK2 inhibitor Gefitinib, we show that pharmacologic RIPK2 inhibition drastically improves disease in a spontaneous model of Crohn Disease-like ileitis. Furthermore, using novel RIPK2-specific inhibitors, we show that cellular recruitment is inhibited in an in vivo peritonitis model. Altogether, the data presented in this work provides a strong rationale for further development and optimization of RIPK2-targeted pharmaceuticals and diagnostics;PMID: 20645315 - SNP association study in patients with IBD ""No significant association was observed with IBD, CD, or UC and any single SNP including the nonconservative variant rs2230801...These results indicate that Rip2 does not seem to play a crucial role in the genetic predisposition to IBD."""		False	1	100;0;0	1.45	False		ENSG00000104312	ENSG00000104312	HGNC:10020