Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | ABCB1 CL E G H | 5243 | 40 | OMIM:612244 | Inflammatory bowel disease 13 | . | | | 7 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | . | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | CARD8 CL E G H | 22900 | 17057 | OMIM:619079 | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30 | | | | 1 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 118 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040284 - Very rare | | | 60 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040284 - Very rare | | | 32 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040283 - Occasional | | | 136 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | | | | 12 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040282 - Frequent | | | 4 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | . | | | 4 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | IL10RB CL E G H | 3588 | 5965 | OMIM:612567 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 | | | | 29 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | IL37 CL E G H | 27178 | 15563 | OMIM:619398 | INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31 | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 2 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | INAVA CL E G H | 55765 | 25599 | OMIM:618077 | INFLAMMATORY BOWEL DISEASE 29; IBD29 | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | IRGM CL E G H | 345611 | 29597 | OMIM:612278 | Inflammatory bowel disease 19 | . | | | 1 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | | | | 11 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | MASP2 CL E G H | 10747 | 6902 | OMIM:613791 | Masp2 deficiency | | | | 41 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040283 - Occasional | | | 281 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | NCF4 CL E G H | 4689 | 7662 | OMIM:613960 | Chronic granulomatous disease 3, autosomal recessive | | | | 37 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 187 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | OPLAH CL E G H | 26873 | 8149 | OMIM:260005 | 5-@oxoprolinase deficiency | | | | 5 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | RET CL E G H | 5979 | 9967 | OMIM:142623 | Hirschsprung disease, susceptibility to, 1 | | | | 572 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 38 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 26 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 34 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | | | | 77 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040283 - Occasional | | | 110 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | SLC9A3 CL E G H | 6550 | 11073 | OMIM:616868 | Diarrhea 8, secretory sodium, congenital | HP:0040283 - Occasional | | | 7 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | . | | | 81 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0002037 | HP:0002037 | Inflammation of the large intestine | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0002037 | HP:0031813 | Colonic eosinophilia | 1 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | BCL10 CL E G H | 8915 | 989 | OMIM:616098 | IMMUNODEFICIENCY 37; IMD37 | | | | 18 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | CARD8 CL E G H | 22900 | 17057 | OMIM:619079 | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30 | | | | 1 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 118 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | FCHO1 CL E G H | 23149 | 29002 | OMIM:619164 | IMMUNODEFICIENCY 76; IMD76 | | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040282 - Frequent | | | 136 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | HP:0040283 - Occasional | | | 12 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | IL10RB CL E G H | 3588 | 5965 | OMIM:612567 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 | | | | 29 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | IL37 CL E G H | 27178 | 15563 | OMIM:619398 | INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31 | | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | IL6 CL E G H | 3569 | 6018 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | | | | 2 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | INAVA CL E G H | 55765 | 25599 | OMIM:618077 | INFLAMMATORY BOWEL DISEASE 29; IBD29 | | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002037 | HP:0031813 | Colonic eosinophilia | 1 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | | | | 11 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | MASP2 CL E G H | 10747 | 6902 | OMIM:613791 | Masp2 deficiency | | | | 41 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | NCF4 CL E G H | 4689 | 7662 | OMIM:613960 | Chronic granulomatous disease 3, autosomal recessive | . | | | 37 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | | | | 187 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | OPLAH CL E G H | 26873 | 8149 | OMIM:260005 | 5-@oxoprolinase deficiency | | | | 5 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 58 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | RET CL E G H | 5979 | 9967 | OMIM:142623 | Hirschsprung disease, susceptibility to, 1 | | | | 572 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 38 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 26 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 34 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | HP:0040283 - Occasional | | | 77 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040283 - Occasional | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040283 - Occasional | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 85 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 70 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0002037 | HP:0002583 | Colitis | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 116 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | . | | | 81 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0002037 | HP:0002583 | Colitis | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0002037 | HP:0100282 | Acute colitis | 2 | CL E G H | | | | | | | | | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0002037 | HP:0033256 | Pancolitis | 2 | CARD8 CL E G H | 22900 | 17057 | OMIM:619079 | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30 | | | | 1 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0002037 | HP:0033164 | Focal active colitis | 2 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040284 - Very rare | | | 79 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0002037 | HP:0033256 | Pancolitis | 2 | IL10RB CL E G H | 3588 | 5965 | OMIM:612567 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 | | | | 29 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | IL10RB CL E G H | 3588 | 5965 | OMIM:612567 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 | | | | 29 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | IL37 CL E G H | 27178 | 15563 | OMIM:619398 | INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31 | | | | | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | IL6 CL E G H | 3569 | 6018 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | | | | 2 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | INAVA CL E G H | 55765 | 25599 | OMIM:618077 | INFLAMMATORY BOWEL DISEASE 29; IBD29 | | | | | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | | | | 11 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | MASP2 CL E G H | 10747 | 6902 | OMIM:613791 | Masp2 deficiency | | | | 41 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | NOD2 CL E G H | 64127 | 5331 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | | | | 187 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | OPLAH CL E G H | 26873 | 8149 | OMIM:260005 | 5-@oxoprolinase deficiency | . | | | 5 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | | | | 21 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | RET CL E G H | 5979 | 9967 | OMIM:142623 | Hirschsprung disease, susceptibility to, 1 | . | | | 572 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040283 - Occasional | | | 110 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0002037 | HP:0033256 | Pancolitis | 2 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0002037 | HP:0004387 | Enterocolitis | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0002037 | HP:0100281 | Chronic colitis | 2 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0002037 | HP:0033165 | Necrotizing enterocolitis | 3 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0002037 | HP:0033165 | Necrotizing enterocolitis | 3 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0002037 | HP:0033165 | Necrotizing enterocolitis | 3 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 2 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | IL37 CL E G H | 27178 | 15563 | OMIM:619398 | INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31 | | | | | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | IL6 CL E G H | 3569 | 6018 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 2 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | INAVA CL E G H | 55765 | 25599 | OMIM:618077 | INFLAMMATORY BOWEL DISEASE 29; IBD29 | | | | | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:617137 | Frontometaphyseal dysplasia 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | MASP2 CL E G H | 10747 | 6902 | OMIM:613791 | Masp2 deficiency | | | | 41 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 1 | | |
HP:0002037 | HP:0033165 | Necrotizing enterocolitis | 3 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | NOD2 CL E G H | 64127 | 5331 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 187 | | |
HP:0002037 | HP:0033165 | Necrotizing enterocolitis | 3 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | HP:0040283 - Occasional | | | 21 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040282 - Frequent | | | 110 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040282 - Frequent | | | 241 | | |
HP:0002037 | HP:0100279 | Ulcerative colitis | 3 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |