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 ADA gene ADA Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAM17 gene ADAM17 Expert Review;Expert Review Green Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328;Recurrent infections Gastrointestinal inflammation;HP:0004386 22010916;29560122;26683521;25804906 False 3 100;0;0 0.122 True ENSG00000151694 ENSG00000151694 HGNC:195 AICDA gene AICDA Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000111732 ENSG00000111732 HGNC:13203 ANKZF1 gene ANKZF1 Expert Review Green;Other Inflammatory bowel disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related Gastrointestinal inflammation;HP:0004386 28302725;36857589 False 3 50;50;0 0.122 True ENSG00000163516 ENSG00000163516 HGNC:25527 BACH2 gene BACH2 Expert list;Expert Review Green Inflammatory bowel disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 60, MIM# 618394;inflammatory bowel disease;recurrent sinopulmonary infections" Gastrointestinal inflammation;HP:0004386 28530713 False 3 100;0;0 0.122 True ENSG00000112182 ENSG00000112182 HGNC:14078 BTK gene BTK Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000010671 ENSG00000010671 HGNC:1133 CARMIL2 gene CARMIL2 Expert Review;Expert Review Green Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early onset paediatric inflammatory bowel disease Gastrointestinal inflammation;HP:0004386 33723309 False 3 100;0;0 0.122 True ENSG00000159753 ENSG00000159753 HGNC:27089 CD3G gene CD3G Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000160654 ENSG00000160654 HGNC:1675 CD40LG gene CD40LG Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000102245 ENSG00000102245 HGNC:11935 CTLA4 gene CTLA4 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000163599 ENSG00000163599 HGNC:2505 CYBA gene CYBA Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000165168 ENSG00000165168 HGNC:2578 DCLRE1C gene DCLRE1C Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000152457 ENSG00000152457 HGNC:17642 DKC1 gene DKC1 Expert Review;Expert Review Green Inflammatory bowel disease Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked, MIM# 305000 Gastrointestinal inflammation;HP:0004386 21284747 False 3 67;33;0 0.122 True ENSG00000130826 ENSG00000130826 HGNC:2890 DOCK11 gene DOCK11 Expert Review Green;Literature Inflammatory bowel disease Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109;Inflammatory bowel disease Gastrointestinal inflammation;HP:0004386 PMID: 37342957;PMID: 36952639 False 3 100;0;0 0.122 True ENSG00000147251 ENSG00000147251 HGNC:23483 DOCK8 gene DOCK8 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000107099 ENSG00000107099 HGNC:19191 DUOX2 gene DUOX2 Expert Review Green;Literature Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, MONDO:0005265, DUOX2-related Gastrointestinal inflammation;HP:0004386 PMID: 35429653;27373512;26301257;28683258 False 3 50;50;0 0.122 True ENSG00000140279 ENSG00000140279 HGNC:13273 FOXP3 gene FOXP3 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000049768 ENSG00000049768 HGNC:6106 G6PC3 gene G6PC3 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000141349 ENSG00000141349 HGNC:24861 GUCY2C gene GUCY2C Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000070019 ENSG00000070019 HGNC:4688 HPS1 gene HPS1 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS6 gene HPS6 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000166189 ENSG00000166189 HGNC:18817 ICOS gene ICOS Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000163600 ENSG00000163600 HGNC:5351 IFIH1 gene IFIH1 Expert Review Green;Literature Inflammatory bowel disease Gastroenterological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Inflammatory Bowel Disease Gastrointestinal inflammation;HP:0004386 34185153 False 3 100;0;0 0.122 True ENSG00000115267 ENSG00000115267 HGNC:18873 IKBKG gene IKBKG Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000073009 ENSG00000269335 HGNC:5961 IL10 gene IL10 Expert Review;Expert Review Green Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diseases of Immune Dysregulation;Early-onset inflammatory bowel disease Gastrointestinal inflammation;HP:0004386 22236434;20951137;19890111 False 3 100;0;0 0.122 True ENSG00000136634 ENSG00000136634 HGNC:5962 IL10RA gene IL10RA Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148 Gastrointestinal inflammation;HP:0004386 19890111;21519361;22476154 False 3 100;0;0 0.122 True ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 Gastrointestinal inflammation;HP:0004386 19890111;21519361;35187668;31096038 False 3 100;0;0 0.122 True ENSG00000243646 ENSG00000243646 HGNC:5965 IL2RA gene IL2RA Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RB gene IL2RB Expert Review;Expert Review Green Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495 Gastrointestinal inflammation;HP:0004386 31040184, 31040185 False 3 50;50;0 0.122 True ENSG00000100385 ENSG00000100385 HGNC:6009 IL2RG gene IL2RG Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000147168 ENSG00000147168 HGNC:6010 ITGB2 gene ITGB2 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000160255 ENSG00000160255 HGNC:6155 LIG4 gene LIG4 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593 Gastrointestinal inflammation;HP:0004386 16088910;10911993;15333585;9809069;12023982;11040211 False 3 100;0;0 0.122 True ENSG00000174405 ENSG00000174405 HGNC:6601 LRBA gene LRBA Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000198589 ENSG00000198589 HGNC:1742 MEFV gene MEFV Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000103313 ENSG00000103313 HGNC:6998 MVK gene MVK Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000110921 ENSG00000110921 HGNC:7530 NCF1 gene NCF1 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000158517 ENSG00000158517 HGNC:7660 NCF2 gene NCF2 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Gastrointestinal inflammation;HP:0004386 7795241;10498624 False 3 100;0;0 0.122 True ENSG00000116701 ENSG00000116701 HGNC:7661 NOD2 gene NOD2 Expert Review;Expert Review Green Inflammatory bowel disease Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "{Inflammatory bowel disease 1, Crohn disease} 266600;{Yao syndrome} 617321" Gastrointestinal inflammation;HP:0004386 11385576;17804789 False 3 50;50;0 0.122 True ENSG00000167207 ENSG00000167207 HGNC:5331 OTULIN gene OTULIN Expert list;Expert Review Green Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099" Gastrointestinal inflammation;HP:0004386 27523608;27559085 False 3 100;0;0 0.122 True ENSG00000154124 ENSG00000154124 HGNC:25118 PIK3CD gene PIK3CD Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000171608 ENSG00000171608 HGNC:8977 RAG1 gene RAG1 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000175097 ENSG00000175097 HGNC:9832 RELA gene RELA Expert Review Green;Literature Inflammatory bowel disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mucocutaneous ulceration, chronic, MIM# 618287;Inflammatory bowel disease Gastrointestinal inflammation;HP:0004386 PMID: 37273177 False 3 100;0;0 0.122 True ENSG00000173039 ENSG00000173039 HGNC:9955 RIPK1 gene RIPK1 Expert Review Green;Literature Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 57, MIM#618108 Gastrointestinal inflammation;HP:0004386 30026316;30591564;31213653 False 3 100;0;0 0.122 True ENSG00000137275 ENSG00000137275 HGNC:10019 RTEL1 gene RTEL1 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000258366 ENSG00000258366 HGNC:15888 SAMD9 gene SAMD9 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MIRAGE syndrome, MIM# 617053 Gastrointestinal inflammation;HP:0004386 31620126 False 3 100;0;0 0.122 True ENSG00000205413 ENSG00000205413 HGNC:1348 SH2D1A gene SH2D1A Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000183918 ENSG00000183918 HGNC:10820 SKIV2L gene SKIV2L Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC37A4 gene SLC37A4 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLCO2A1 gene SLCO2A1 Expert Review Green;Literature Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related;Enteropathy Gastrointestinal inflammation;HP:0004386 PMID: 29313109 False 3 100;0;0 0.122 True ENSG00000174640 ENSG00000174640 HGNC:10955 SOCS1 gene SOCS1 Expert Review Green;Literature Inflammatory bowel disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375;Enteropathy Gastrointestinal inflammation;HP:0004386 PMID: 37156989 False 3 100;0;0 0.122 True ENSG00000185338 ENSG00000185338 HGNC:19383 STAT1 gene STAT1 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000115415 ENSG00000115415 HGNC:11362 STAT3 gene STAT3 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000168610 ENSG00000168610 HGNC:11364 STXBP2 gene STXBP2 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000076944 ENSG00000076944 HGNC:11445 STXBP3 gene STXBP3 Expert Review Green;Literature Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Bilateral Sensorineural Hearing Loss;Immune Dysregulation Gastrointestinal inflammation;HP:0004386 33891011 False 3 100;0;0 0.122 True ENSG00000116266 ENSG00000116266 HGNC:11446 TGFBR1 gene TGFBR1 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000163513 ENSG00000163513 HGNC:11773 TNFAIP3 gene TNFAIP3 Expert Review Green;Literature Inflammatory bowel disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inflammatory bowel disease;Crohn's disease;Autoinflammatory syndrome, familial, Behcet-like Gastrointestinal inflammation;HP:0004386 34030699;33446651;32521965;31299923 False 3 100;0;0 0.122 True ENSG00000118503 ENSG00000118503 HGNC:11896 TRIM22 gene TRIM22 Expert list;Expert Review Green Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease Gastrointestinal inflammation;HP:0004386 26836588 False 3 100;0;0 0.122 True ENSG00000132274 ENSG00000132274 HGNC:16379 TTC37 gene TTC37 Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, MIM#222470;Colitis;Pancolitis;Inflammatory bowel disease-like phenotype;Very Early Onset Inflammatory Bowel Disease Gastrointestinal inflammation;HP:0004386 29334452;27302973 False 3 100;0;0 0.122 True ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150;Very Early Onset Inflammatory Bowel Disease (VEOIBD) Gastrointestinal inflammation;HP:0004386 30553809;28936210;24417819;24292712;23830146;29174094;31743734 False 3 100;0;0 0.122 True ENSG00000068724 ENSG00000068724 HGNC:19750 WAS gene WAS Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders Unknown Gastrointestinal inflammation;HP:0004386 False 3 0;0;0 0.122 False ENSG00000015285 ENSG00000015285 HGNC:12731 XIAP gene XIAP Expert Review Green;Victorian Clinical Genetics Services Inflammatory bowel disease Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked lymphoproliferative syndrome 2;inflammatory bowel disease;colitis Gastrointestinal inflammation;HP:0004386 25666262;17080092;21173700;25943627;22228567;26182687;31232887 False 3 100;0;0 0.122 True ENSG00000101966 ENSG00000101966 HGNC:592 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