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 ABCB1 gene ABCB1 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Ulcerative Colitis;{Inflammatory bowel disease 13} False 1 0;0;0 1.76 False ENSG00000085563 ENSG00000085563 HGNC:40 AICDA gene AICDA Emory Genetics Laboratory Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 2, OMIM:605258 False 1 100;0;0 1.76 False ENSG00000111732 ENSG00000111732 HGNC:13203 ATG16L1 gene ATG16L1 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders {Inflammatory bowel disease (Crohn disease) 10};Crohn disease False 1 0;0;0 1.76 False ENSG00000085978 ENSG00000085978 HGNC:21498 BTK gene BTK Emory Genetics Laboratory Gastrointestinal epithelial barrier disorders 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) Early Onset Inflammatory Bowel Disease;Agammaglobulinemia and isolated hormone deficiency 307200;Agammaglobulinemia, X-linked 1 300755 False 1 100;0;0 1.76 False ENSG00000010671 ENSG00000010671 HGNC:1133 CD3G gene CD3G UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Inflammatory Bowel Disease (Very Early Onset) False 1 50;0;50 1.76 False ENSG00000160654 ENSG00000160654 HGNC:1675 G6PC3 gene G6PC3 Expert list;Expert Review Red Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders False 1 100;0;0 1.76 False ENSG00000141349 ENSG00000141349 HGNC:24861 HLA-DQA1 gene HLA-DQA1 Literature Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders {Susceptability to coeliac disease} 29244800; 29279060 False 1 0;0;0 1.76 False ENSG00000196735 ENSG00000196735 HGNC:4942 HLA-DRB1 gene HLA-DRB1 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Crohn disease False 1 0;0;0 1.76 False ENSG00000196126 ENSG00000196126 HGNC:4948 IL12B gene IL12B Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Crohn disease False 1 0;0;0 1.76 False ENSG00000113302 ENSG00000113302 HGNC:5970 IL23R gene IL23R Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Crohn disease;Ulcerative Colitis False 1 0;0;0 1.76 False ENSG00000162594 ENSG00000162594 HGNC:19100 IL6 gene IL6 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders {Crohn disease-associated growth failure} False 1 0;0;0 1.76 False ENSG00000136244 ENSG00000136244 HGNC:6018 IRF5 gene IRF5 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Ulcerative Colitis False 1 0;0;0 1.76 False ENSG00000128604 ENSG00000128604 HGNC:6120 IRGM gene IRGM Other;Radboud University Medical Center, Nijmegen Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Inflammatory bowel disease 19, 612278;Crohn disease;{Inflammatory bowel disease (Crohn disease) 19} False 1 0;0;0 1.76 False ENSG00000237693 ENSG00000237693 HGNC:29597 JAK2 gene JAK2 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Crohn disease False 1 0;0;0 1.76 False ENSG00000096968 ENSG00000096968 HGNC:6192 LRRK2 gene LRRK2 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Crohn disease False 1 0;0;0 1.76 False ENSG00000188906 ENSG00000188906 HGNC:18618 MAGI2 gene MAGI2 Literature Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Unknown Celiac Disease;IBD;IBD 21143118 False 1 0;0;100 1.76 False ENSG00000187391 ENSG00000187391 HGNC:18957 MUC2 gene MUC2 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Crohn disease False 1 0;0;0 1.76 False ENSG00000198788 ENSG00000198788 HGNC:7512 MYO9B gene MYO9B Expert Review Red;Literature Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Unknown Celiac Disease 21143118 False 1 0;0;100 1.76 False ENSG00000099331 ENSG00000099331 HGNC:7609 NLRC4 gene NLRC4 Radboud University Medical Center, Nijmegen Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Autoinflammation with infantile enterocolitis, OMIM:616050 False 1 0;0;0 1.76 False ENSG00000091106 ENSG00000091106 HGNC:16412 PARD3 gene PARD3 Literature Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Unknown Enhanced Epithelial Permeability 21143118 False 1 0;0;100 1.76 False ENSG00000148498 ENSG00000148498 HGNC:16051 PTPN2 gene PTPN2 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Ulcerative Colitis False 1 0;0;0 1.76 False ENSG00000175354 ENSG00000175354 HGNC:9650 SHANK3 gene SHANK3 Expert Review Red Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders False 1 0;0;0 1.76 False ENSG00000251322 ENSG00000251322 HGNC:14294 SLC22A4 gene SLC22A4 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Crohn disease False 1 0;0;0 1.76 False ENSG00000197208 ENSG00000197208 HGNC:10968 SLC22A5 gene SLC22A5 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Crohn disease False 1 0;0;0 1.76 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC9A3 gene SLC9A3 Expert list;Radboud University Medical Center, Nijmegen Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 8, secretory sodium, congenital, 616868 False 1 0;0;0 1.76 False ENSG00000066230 ENSG00000066230 HGNC:11073 TGFBR1 gene TGFBR1 Expert list;Expert Review Red Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders False 1 100;0;0 1.76 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert list;Expert Review Red Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders False 1 100;0;0 1.76 False ENSG00000163513 ENSG00000163513 HGNC:11773 TYK2 gene TYK2 Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Crohn disease False 1 0;0;0 1.76 False ENSG00000105397 ENSG00000105397 HGNC:12440