IBD1
MCID: INF071
MIFTS: 74

Inflammatory Bowel Disease 1 (IBD1)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Inflammatory Bowel Disease 1

MalaCards integrated aliases for Inflammatory Bowel Disease 1:

Name: Inflammatory Bowel Disease 1 57 73
Inflammatory Bowel Disease 1 11 73 28 5 14
Crohn Disease-Associated Growth Failure 57 73 12
Ibd1 57 11 73
Crohn Disease-Associated Growth Failure, Susceptibility to 28 5
Ulcerative Colitis 73 71
Regional Enteritis 73 71
Crohn Disease 73 71
Inflammatory Bowel Disease 1, Crohn Disease 57
Bowel Disease, Inflammatory, Type 1 38

Characteristics:


Inheritance:

Multifactorial 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity
5-10% of patients have a first degree relative with ibd (crohn or ulcerative colitis)
35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis)


Classifications:



External Ids:

Disease Ontology 11 DOID:0110892
OMIM® 57 266600
OMIM Phenotypic Series 57 PS266600
UMLS 71 C0009324 C0010346 C0678202

Summaries for Inflammatory Bowel Disease 1

UniProtKB/Swiss-Prot: 73 A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.

MalaCards based summary: Inflammatory Bowel Disease 1, also known as inflammatory bowel disease 1, is related to inflammatory bowel disease 19 and inflammatory bowel disease 17, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Inflammatory Bowel Disease 1 is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are Innate Immune System and NF-kappaB Signaling. The drugs Mercaptopurine and Magnesium citrate have been mentioned in the context of this disorder. Affiliated tissues include colon, bone marrow and small intestine, and related phenotypes are growth delay and abdominal pain

Disease Ontology: 11 An inflammatory bowel disease that has material basis in mutations in the NOD2 gene on chromosome 16q12.1.

More information from OMIM: 266600 PS266600

Related Diseases for Inflammatory Bowel Disease 1

Diseases in the Bowel Dysfunction family:

Inflammatory Bowel Disease 11 Inflammatory Bowel Disease 1
Inflammatory Bowel Disease 2 Inflammatory Bowel Disease 3
Inflammatory Bowel Disease 7 Inflammatory Bowel Disease 5
Inflammatory Bowel Disease 8 Inflammatory Bowel Disease 6
Inflammatory Bowel Disease 4 Inflammatory Bowel Disease 9
Inflammatory Bowel Disease 10 Inflammatory Bowel Disease 12
Inflammatory Bowel Disease 13 Inflammatory Bowel Disease 14
Inflammatory Bowel Disease 15 Inflammatory Bowel Disease 16
Inflammatory Bowel Disease 17 Inflammatory Bowel Disease 18
Inflammatory Bowel Disease 19 Inflammatory Bowel Disease 20
Inflammatory Bowel Disease 21 Inflammatory Bowel Disease 22
Inflammatory Bowel Disease 23 Inflammatory Bowel Disease 24
Inflammatory Bowel Disease 25, Autosomal Recessive Inflammatory Bowel Disease 26
Inflammatory Bowel Disease 27 Inflammatory Bowel Disease 28, Autosomal Recessive
Inflammatory Bowel Disease 29 Inflammatory Bowel Disease 30
Inflammatory Bowel Disease 31, Autosomal Recessive Inflammatory Bowel Disease
Inflammatory Bowel Disease 28 Inflammatory Bowel Disease 25
Alpi-Related Inflammatory Bowel Disease Trim22-Related Inflammatory Bowel Disease
Rare Inflammatory Bowel Disease

Diseases related to Inflammatory Bowel Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1681)
# Related Disease Score Top Affiliating Genes
1 inflammatory bowel disease 19 32.5 TNFSF15 NOD2 IRGM
2 inflammatory bowel disease 17 32.4 IL23R CCR6
3 chemical colitis 32.1 NOD2 IL6
4 enterocolitis 31.6 NOD2 IL6
5 dysentery 31.6 IL6 H2AC18 CCR6
6 spondyloarthropathy 1 31.5 NOD2 IL6 IL23R CCR6
7 diverticulitis 31.5 TNFSF15 IL6 CCR6
8 exanthem 31.4 IL6 H2AC18 CCR6
9 crohn's colitis 31.4 NOD2 IRGM IL6 DEFB4A CCR6 ATG16L1
10 spondylitis 31.4 NOD2 IL6 IL23R CCR6
11 gastritis 31.3 NOD1 IL6 DEFB4A CCR6
12 ileitis 31.3 TNFSF15 TLR2 NOD2 IRGM IL6 CCR6
13 nutritional deficiency disease 31.3 IL6 H2AC18 CCR6
14 peptic ulcer disease 31.3 IL6 H2AC18 CCR6
15 arthropathy 31.2 NOD2 IL6 CCR6
16 celiac disease 1 31.2 TLR2 NOD2 IL6 IL23R H2AC18 CCR6
17 primary biliary cholangitis 31.1 TNFSF15 IL6 H2AC18 CCR6
18 osteomyelitis 31.1 TLR2 NOD2 IL6
19 anterior uveitis 31.0 TLR2 IL6 IL23R CCR6
20 arthritis 31.0 TLR2 SLC22A4 NOD2 IL6 CCR6
21 viral infectious disease 31.0 TLR2 IL6 H2AC18 CCR6
22 rectal disease 31.0 NOD2 IL6 H2AC18 CCR6
23 spondyloarthropathy 30.9 NOD2 IL6 IL23R CCR6
24 aphthous stomatitis 30.9 IL6 IL23R CCR6
25 acne 30.9 TLR2 IL6 DEFB4A
26 colorectal adenoma 30.9 IL6 H2AC18 CCR6
27 candidiasis 30.9 TLR2 IL6 DEFB4A
28 psoriasis 30.9 TLR2 NOD2 IL6 IL23R DEFB4A CCR6
29 peritonitis 30.9 TLR2 NOD2 IL6
30 iritis 30.8 NOD2 IL6 CCR6
31 intestinal perforation 30.8 NOD2 IL6 CCR6
32 intestinal tuberculosis 30.8 TNFSF15 NOD2
33 alcohol use disorder 30.8 IL6 H2AC18 CCR6
34 acute myocarditis 30.8 IL6 H2AC18 CCR6
35 behcet syndrome 30.8 TLR2 NOD2 IL6 IL23R H2AC18 CCR6
36 urinary tract infection 30.8 TLR2 IL6 H2AC18 CCR6
37 sapho syndrome 30.8 NOD2 CCR6
38 cellulitis 30.7 IL6 DEFB4A CCR6
39 salmonellosis 30.7 TLR2 NOD2 NOD1 IL6 CCR6 ATG16L1
40 bone inflammation disease 30.7 TLR2 IL6 H2AC18 CCR6
41 anus disease 30.7 IL6 H2AC18 CCR6
42 aspergillosis 30.7 TLR2 NOD2 IL6 CCR6
43 dermatitis, atopic 30.7 TLR2 NOD2 IL6 DEFB4A CCR6
44 psoriatic arthritis 30.7 TLR2 SLC22A5 SLC22A4 NOD2 IL6 IL23R
45 familial mediterranean fever 30.7 TLR2 NOD2 IL6
46 legionnaire disease 30.6 TLR2 NOD1 IL6
47 listeriosis 30.6 TLR2 IL6 H2AC18 CCR6
48 pharyngitis 30.6 TLR2 IL6 CCR6
49 lymphadenitis 30.6 NOD2 IL6 CCR6
50 skin disease 30.6 TLR2 NOD2 IL6 IL23R H2AC18 DEFB4A

Comorbidity relations with Inflammatory Bowel Disease 1 via Phenotypic Disease Network (PDN): (show all 11)


Active Peptic Ulcer Disease Acute Cystitis
Crohn's Disease Deficiency Anemia
Esophagitis Intestinal Obstruction
Iron Deficiency Anemia Osteoporosis
Paralytic Ileus Protein-Energy Malnutrition
Ulcerative Colitis

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 1:



Diseases related to Inflammatory Bowel Disease   1

Symptoms & Phenotypes for Inflammatory Bowel Disease 1

Human phenotypes related to Inflammatory Bowel Disease 1:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 growth delay 30 HP:0001510
2 abdominal pain 30 HP:0002027
3 weight loss 30 HP:0001824
4 intestinal obstruction 30 HP:0005214
5 diarrhea 30 HP:0002014
6 recurrent aphthous stomatitis 30 HP:0011107
7 crohn's disease 30 HP:0100280
8 ulcerative colitis 30 HP:0100279

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Gastrointestinal:
abdominal pain
diarrhea
aphthous ulcers
bowel obstruction
strictures
more
Head And Neck Mouth:
aphthous ulcers (lips, gingiva, buccal mucosa)

Growth Weight:
weight loss

Clinical features from OMIM®:

266600 (Updated 08-Dec-2022)

UMLS symptoms related to Inflammatory Bowel Disease 1:


nausea and vomiting; constipation; abdominal pain; diarrhea; dyspepsia; icterus; heartburn; gastrointestinal gas

MGI Mouse Phenotypes related to Inflammatory Bowel Disease 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.8 ATG16L1 CARD6 CCR6 DEFB4A IL23R IL6
2 digestive/alimentary MP:0005381 9.76 ATG16L1 IL23R IL6 NOD2 PRKCQ RIPK2
3 hematopoietic system MP:0005397 9.4 ATG16L1 CCR6 DEFB4A IL23R IL6 IRGM

Drugs & Therapeutics for Inflammatory Bowel Disease 1

Drugs for Inflammatory Bowel Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 421)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mercaptopurine Approved Phase 4 50-44-2 667490
2
Magnesium citrate Approved Phase 4 3344-18-1
3
Prucalopride Approved Phase 4 179474-81-8 3052762
4
Ondansetron Approved, Withdrawn Phase 4 99614-02-5 4595
5
Phylloquinone Approved, Investigational Phase 4 84-80-0 5284607
6
Nicotine Approved Phase 4 54-11-5 942 89594
7
Linaclotide Approved Phase 4 851199-59-2 16158208
8
Azithromycin Approved Phase 4 83905-01-5 447043
9
Esketamine Approved, Investigational Phase 4 33643-46-8 182137
10
Ketamine Approved, Vet_approved Phase 4 6740-88-1, 1867-66-9 3821
11
Sulfamethazine Approved, Investigational, Vet_approved Phase 4 57-68-1 5327
12
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
13
Golimumab Approved Phase 4 476181-74-5
14
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
15
Ozanimod Approved, Investigational Phase 4 1306760-87-1 25110515 52938427
16
Mesalazine Approved Phase 4 89-57-6 4075
17
Tofacitinib Approved, Investigational Phase 4 477600-75-2 9926791
18
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
19
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
20
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
21
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
22
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
23
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
24
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
25
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
27 Menaquinone Investigational Phase 4 1182-68-9
28 Picosulfate sodium Phase 4
29 Hepcidins Phase 4
30 Serotonin Receptor Agonists Phase 4
31 Adrenergic Agents Phase 4
32 Sympathomimetics Phase 4
33 Cyclosporins Phase 4
34 Parenteral Nutrition Solutions Phase 4
35 Vaccines Phase 4
36 Vitamin K Phase 4
37
Naphthoquinone Phase 4
38 Antifibrinolytic Agents Phase 4
39 Hemostatics Phase 4
40 Coagulants Phase 4
41 Soy Bean Phase 4
42 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
43 Fat Emulsions, Intravenous Phase 4
44 Soybean oil, phospholipid emulsion Phase 4
45 Adrenergic beta-Agonists Phase 4
46 Adrenergic alpha-Agonists Phase 4
47 Adrenergic Agonists Phase 4
48 Vasoconstrictor Agents Phase 4
49 Mydriatics Phase 4
50 Antidepressive Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 2256)
# Name Status NCT ID Phase Drugs
1 GLM Dose Optimisation to Adequate Levels to Achieve Response in Colitis (GOAL-ARC). A Nationwide Multi-centred Randomised Controlled Trial (RCT) Investigating the Use of GLM Dose Adjustment in Ulcerative Colitis (UC). Unknown status NCT02687724 Phase 4 Golimumab (GLM)
2 Fecal Microbiota Transplantation for Ulcerative Colitis Through Colonic Transendoscopic Enteral Tubing Unknown status NCT02998112 Phase 4 fecal microbiota transplantation;Saline
3 Efficacy of Treatment With Berberine to Maintain Remission in Ulcerative Colitis: An Open-label,Randomized,Phase IV Clinical Trial Unknown status NCT02962245 Phase 4 berberine;regular treatment
4 Exposure-response of Golimumab During Maintenance in Ulcerative Colitis: An Exploratory Pharmacokinetics/Pharmacodynamics Comparison of Different Dose Regimens Unknown status NCT04156984 Phase 4 Golimumab Prefilled Syringe
5 Optimization of Golimumab Treatment in Ulcerative Colitis Unknown status NCT03669029 Phase 4 Golimumab 50 mg in patients <80 kg and Golimumab 100 mg in patients >80 kg;Golimumab treatment optimization.
6 Comparison Between Two Therapeutic Strategies for the Maintenance of Clinical and Endoscopic Remission in Patients With Ulcerative Colitis Treated by Infliximab Unknown status NCT03151525 Phase 4 Azathioprine;Infliximab
7 Tolerability and Efficacy of Low-Volume Sodium Picosulfate/Magnesium Citrate Versus 2L Polyethylene Glycol/Ascorbic Acid in Patients With Ulcerative Colitis Undergoing Colonoscopy: A Randomized Controlled Trial Unknown status NCT03581149 Phase 4 Sodium Picosulfate/Magnesium Citrate Laxative;2L polyethylene glycol/ascorbic acid
8 Investigation of the Faecal Loss of Vedolizumab and Its Role in Influencing Serum Drug Levels, Outcomes and Response in Ulcerative Colitis Unknown status NCT04006080 Phase 4
9 A Randomized, Double-blind Study Investigating the Efficacy and Safety of Mesalazine With Hydrocortisone Sodium Succinate (100mg QD) Enema for 4-Week Treatment in Patients With Ulcerative Colitis (UC) Unknown status NCT03110198 Phase 4 Mesalazine;hydrocortisone sodium succinate;Mesalazine with hydrocortisone sodium succinate
10 Pilot Study to Evaluate the Efficacy of Golimumab for Induction and Maintenance of Clinical and Endoscopic Remission in Patients With Steroid-dependent Ulcerative Colitis Unknown status NCT02412085 Phase 4 Golimumab
11 Personalised Medicine: a Break Through Approach for Early Determination of Anti Tumor Necrosis Factor (TNF) Responders and Non Responders Among Patients With Ulcerative Colitis in a Prospective Study With Golimumab (Simponi) Unknown status NCT02186886 Phase 4 Golimumab
12 Probiotic for the Restoration of Intestinal Permeability and Reduction of Intestinal Inflammation in Active Ulcerative Colitis: A Double Blind Randomized Placebo Controlled Trial Unknown status NCT01479660 Phase 4 Probiotic
13 The Effect of Probiotics on Bowel Disease Unknown status NCT01078935 Phase 4
14 A Prospective Multi-centric Belgian Trial to Validate the Use of Golimumab Serum Level Analysis Using the Dried Blood Spot (DBS) Methodology Unknown status NCT02910375 Phase 4
15 A Randomized, Controlled, Single-blind Study of Effects of Enteral Nutrition and Corticosteroid on Intestinal Flora in Induction Remission of Crohn Disease in Adult Unknown status NCT02056418 Phase 4 corticosteroid
16 The Impact of Serum Vitamin D and Calcium Levels on the Body Composition, Bone Mineral Density, Muscle Strength, Exercise Tolerance, Fatigue and Inflammatory Activity in Patients With Crohn's Disease: a Randomized Controlled Trial Unknown status NCT02704624 Phase 4
17 Department of General Surgery, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310016, China Unknown status NCT03901937 Phase 4 ω-3 polyunsaturated fatty acid
18 Can Vitamin D Supplementation in People With Crohn's Disease Improve Symptoms as an Adjunct Therapy? D-CODE Feasibility Randomised Controlled Trial Unknown status NCT03718182 Phase 4
19 Adverse Effects of Glucocorticoid Therapy on Bone in Childhood Crohn's Disease Unknown status NCT00609752 Phase 4 prednisolone
20 The Effect of Prucalopride on Small Bowel Transit Time in Patients Undergoing Capsule Endoscopy: A Randomized Controlled Trial Unknown status NCT02806206 Phase 4 Prucalopride;Placebo
21 Stricture Definition and Treatment (STRIDENT) Drug Therapy Study Unknown status NCT03220841 Phase 4 Adalimumab Injection;Thiopurine
22 Use of Combined Measurements of Serum Infliximab and Anti-infliximab Antibodies in the Treatment of Patients With Crohns Disease Failing Infliximab Therapy Unknown status NCT00851565 Phase 4
23 Evaluation of PET CT in the Management of Patients With Crohn's Disease. Unknown status NCT00731809 Phase 4
24 Does Clinical Response Correlate With Serum Certolizumab Levels? A Prospective Open Label Trial of Adult Patients With Active Crohn's Disease (APOLLO) Unknown status NCT02597829 Phase 4 Certolizumab Pegol
25 A Prospective, Placebo Controlled, Double-Blind, Cross-over Study on the Effects of a Probiotic Preparation (VSL#3) on Metabolic Profile, Intestinal Permeability, Microbiota, Cytokines and Chemokines Expression and Other Inflammatory Markers in Pediatric Patients With Crohn's Disease Unknown status NCT01632462 Phase 4 VSL#3
26 Santeon InflixMab biosimILAr Research A Randomized, Controlled, Double Blind, Phase 4 Noninferiority Trial to Assess Efficacy of Infliximab-biosimilar (Inflectra) Compared to Infliximab-innovator (Remicade) in Patients With Inflammatory Bowel Disease in Remission. Unknown status NCT02452151 Phase 4 Infliximab-Biosimilar;Infliximab-Innovator
27 Optimizing Response in Crohn's Disease Patients Who Have Insufficient Initial Response or Who Have Loss of Successful Response to Certolizumab Pegol (Cimzia) Induction Therapy Unknown status NCT01024647 Phase 4
28 Double-blind Placebo Controlled Trial of VSL#3 in Children With Crohn's Disease Unknown status NCT00367705 Phase 4
29 Phase IV Study Comparing a Nutritional Anti-Inflammatory Treatment to Steroids for Pediatric Crohn's Disease - the Molecular Basis Unknown status NCT00265772 Phase 4 MODULEN IBD (R) (specific Enteral Nutrition);prednisolon
30 The Effect of Probiotics on the Rate of Recovery of Inflammatory Bowel Disease Exacerbation (Crohn's Disease) and Markers of Inflammation Unknown status NCT01765998 Phase 4 Probiotic;Placebo
31 Risk-stratified Randomized Controlled Trial in Paediatric Crohn Disease:Methotrexate vs Azathioprine or Adalimumab for Maintaining Remission in Patients at Low or High Risk for Aggressive Disease Course, respectively-a Treatment Strategy Unknown status NCT02852694 Phase 4 Methotrexate;Adalimumab;Azathioprine / 6 Mercaptopurine
32 A Randomized, Multicenter Open Label Study Comparing Cyclosporine With Infliximab in Steroid-refractory Severe Attacks of Ulcerative Colitis Completed NCT00542152 Phase 4 CYCLOSPORINE VS INFLIXIMAB
33 A Phase IV, Multi-center, Open-label Study to Assess Clinical Recurrence Related to Compliance With Treatment With MMX Mesalamine 2.4g/Day Given Once Daily for the Maintenance of Quiescent Ulcerative Colitis (UC) Completed NCT00446849 Phase 4 MMX Mesalamine
34 Combination Corticosteroids + 5-aminosalicylic Acids Compared to Corticosteroids Alone in the Treatment of Moderate-severe Active Ulcerative Colitis. Completed NCT01941589 Phase 4 oral 5-ASA+/-topical 5-ASA+IV corticosteroids / PO Methylprednisolone;corticosteroids only
35 Golimumab: A Phase 4, UK, Open Label, Single Arm Study on Its Utilization and Impact in Ulcerative Colitis Completed NCT02092285 Phase 4 Golimumab
36 An Open Label Interventional Phase 4 Study to Evaluate Efficacy, Safety and Mucosal Healing of Early Versus Late Use of Vedolizumab in Ulcerative Colitis: the LOVE-UC Study (LOw Countries VEdolizumab in UC Study) Completed NCT02646657 Phase 4 Vedolizumab 300 mg
37 Test Treat Strategy to Prevent Ulcerative Colitis Relapse Completed NCT00652145 Phase 4 mesalamine
38 An Open-Label, Multicenter and Open Enrollment Model, Postmarketing, Milk-Only Lactation Study to Assess Concentration of Vedolizumab in Breast Milk of Lactating Women With Active Ulcerative Colitis or Crohn's Disease Who Are Receiving Vedolizumab Therapeutically Completed NCT02559713 Phase 4 Vedolizumab
39 A RANDOMIZED, DOUBLE-BLIND, PARALLEL-GROUP STUDY TO EVALUATE THE SAFETY AND EFFICACY OF SWITCHING FROM INNOVATOR INFLIXIMAB TO BIOSIMILAR INFLIXIMAB COMPARED WITH CONTINUED TREATMENT WITH INNOVATOR INFLIXIMAB IN PATIENTS WITH RHEUMATOID ARTHRITIS, SPONDYLOARTHRITIS, PSORIATIC ARTHRITIS, ULCERATIVE COLITIS, CROHN'S DISEASE AND CHRONIC PLAQUE PSORIASIS THE NOR-SWITCH STUDY Completed NCT02148640 Phase 4 Innovator infliximab;Biosimilar infliximab
40 A Phase 4 Open-Label Study to Evaluate Vedolizumab IV Dose Optimization on Treatment Outcomes In Nonresponders With Moderately to Severely Active Ulcerative Colitis (ENTERPRET) Completed NCT03029143 Phase 4 Vedolizumab IV
41 Use of a Novel Diet (UC DIET) Targeting the Microbiota for Treatment of Mild to Moderate Active Pediatric Ulcerative Colitis: An Open Label Pilot Study Completed NCT02345733 Phase 4 Antibiotic cocktail
42 A Phase 4, Open-label, Multicenter, Prospective Study to Evaluate the Effect of Remission Status on the Ability to Maintain or Achieve Clinical and Endoscopic Remission During a 12-Month, Long-term Maintenance Phase With 2.4g/Day MMX Mesalamine/Mesalazine Once Daily in Adult Subjects With Ulcerative Colitis Completed NCT01124149 Phase 4 MMX mesalamine/ mesalazine
43 Open Label Safety and Efficacy Trial of Twice Daily Dosing of Asacol vs. Three Times Per Day Dosing for the Induction of Remission in Active Ulcerative Colitis Completed NCT00194818 Phase 4 Asacol (mesalamine)
44 Study for the Treatment of Ulcerative Colitis With Adacolumn (Companion to US Study 512-04-205) Completed NCT00219414 Phase 4
45 An Open Label, Single Group Assignment Design Study to Correlate Soluble ST2 With Clinical, Endoscopic and Histological Activity in Moderate to Severe Ulcerative Colitis Patients Under Golimumab. Completed NCT02318667 Phase 4
46 Multicentre Investigation of the Efficacy and Safety of Adacolumn® GMA in Patients With Steroid-Dependent Active Ulcerative Colitis and Insufficient Response or Intolerance to Immunosuppressants and/or Biological Therapies Completed NCT01481142 Phase 4
47 A Multicenter, Double-blind, Randomized, Placebo-controlled Study to Evaluate the Effect of Mutaflor in Patients With Mild-to-moderate Ulcerative Colitis on 5-ASA Treatment. Completed NCT04969679 Phase 4 E. coli Nissle 1917 (Mutaflor®);Placebo
48 Multicenter Open-label Study Evaluating the Safety and Efficacy of Standardized Initial Therapy Using Either Mesalamine or Corticosteroids Then Mesalamine to Treat Children and Adolescents With Newly Diagnosed Ulcerative Colitis. Completed NCT01536535 Phase 4 Mesalazine;IV Corticosteroid;Oral Corticosteroids
49 A Research Study to Bank Samples for Future Evaluation to Identify Biomarkers That Predispose Crohn's Disease and Ulcerative Colitis Patients to Develop Hepatosplenic T-Cell Lymphoma (HSTCL) Completed NCT01804166 Phase 4 Infliximab;Golimumab
50 Multi Center Ulcerative Colitis Pediatric Pentasa Intervention Trial (MUPPIT). A Randomized, Single-blinded, Controlled, Parallel, Induction Therapy With Once vs. Twice Daily Dosing of Pentasa in Pediatric UC. Completed NCT01201122 Phase 4 Mesalamine

Search NIH Clinical Center for Inflammatory Bowel Disease 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


aminosalicylic acid
Azathioprine
balsalazide
Balsalazide disodium
Cholecalciferol
Hydrocortisone
hydrocortisone acetate
HYDROCORTISONE ACETATE PWDR
HYDROCORTISONE ACETONIDE
Hydrocortisone butyrate
hydrocortisone cypionate
hydrocortisone probutate
HYDROCORTISONE PWDR
Hydrocortisone sodium phosphate
Hydrocortisone sodium succinate
hydrocortisone valerate
HYDROCORTISONE,NONSTERILE PWDR
mesalamine
natalizumab
nicotine polacrilex
olsalazine
Olsalazine sodium
Opium
OPIUM ALKALOIDS HYDROCHLORIDE
OPIUM, POWDERED
paregoric
Psyllium
PSYLLIUM HYDROCOLLOID
Sulfasalazine
Thalidomide

Genetic Tests for Inflammatory Bowel Disease 1

Genetic tests related to Inflammatory Bowel Disease 1:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 1 28 IL6 NOD2
2 Crohn Disease-Associated Growth Failure, Susceptibility to 28

Anatomical Context for Inflammatory Bowel Disease 1

Organs/tissues related to Inflammatory Bowel Disease 1:

MalaCards : Colon, Bone Marrow, Small Intestine, Bone, T Cells, Skin, Placenta

Publications for Inflammatory Bowel Disease 1

Articles related to Inflammatory Bowel Disease 1:

(show top 50) (show all 34778)
# Title Authors PMID Year
1
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 62 57 5
21983784 2011
2
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 62 57 5
11385576 2001
3
Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children. 57 5
16150725 2005
4
Somatic inflammatory gene mutations in human ulcerative colitis epithelium. 62 57
31853059 2020
5
Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis. 62 57
31853061 2020
6
Fine-mapping inflammatory bowel disease loci to single-variant resolution. 62 57
28658209 2017
7
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 62 57
23128233 2012
8
Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis. 62 57
22674328 2012
9
Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease. 62 57
22152681 2011
10
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. 62 57
20176734 2010
11
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). 62 57
20228798 2010
12
Genome-wide association identifies multiple ulcerative colitis susceptibility loci. 62 57
20228799 2010
13
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. 62 57
19915573 2009
14
Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 62 5
19713276 2009
15
Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. 62 57
19174780 2009
16
Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. 62 57
19249008 2009
17
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. 62 57
19122664 2009
18
Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. 62 57
19068216 2009
19
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. 62 57
18836448 2008
20
Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases. 62 57
18759272 2008
21
Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. 62 57
18438405 2008
22
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. 62 57
18439550 2008
23
An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29. 62 57
18246054 2008
24
New links to the pathogenesis of Crohn disease provided by genome-wide association scans. 62 57
17968351 2008
25
Increased expression and activation of IL-12-induced Stat4 signaling in the mucosa of ulcerative colitis patients. 62 57
18048021 2007
26
CEACAM6 acts as a receptor for adherent-invasive E. coli, supporting ileal mucosa colonization in Crohn disease. 62 57
17525800 2007
27
Inflammatory bowel disease: cause and immunobiology. 62 57
17499605 2007
28
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 62 57
17435756 2007
29
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. 62 57
17447842 2007
30
Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease. 62 57
17058067 2006
31
A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. 62 57
16909382 2006
32
IL-23 is essential for T cell-mediated colitis and promotes inflammation via IL-17 and IL-6. 62 57
16670770 2006
33
New genes in inflammatory bowel disease: lessons for complex diseases? 62 57
16631883 2006
34
A NFKB1 promoter polymorphism is involved in susceptibility to ulcerative colitis. 62 57
16313306 2005
35
No association of the NFKB1 promoter polymorphism with ulcerative colitis in a British case control cohort. 62 57
16009698 2005
36
A functional polymorphism of the NFKB1 promoter is not associated with ulcerative colitis in a Spanish population. 62 57
15905705 2005
37
GRIM-19 interacts with nucleotide oligomerization domain 2 and serves as downstream effector of anti-bacterial function in intestinal epithelial cells. 62 57
15753091 2005
38
Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease. 62 57
15790594 2005
39
Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations. 62 5
15198989 2004
40
Nonclassical CD1d-restricted NK T cells that produce IL-13 characterize an atypical Th2 response in ulcerative colitis. 62 57
15146247 2004
41
Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. 62 57
14976156 2004
42
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 62 5
15024686 2004
43
Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis. 62 57
14613970 2004
44
The adaptive imbalance in base excision-repair enzymes generates microsatellite instability in chronic inflammation. 62 57
14679184 2003
45
The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants. 62 57
12928481 2003
46
A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. 62 5
12577202 2003
47
Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. 62 5
12626759 2003
48
CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. 62 5
12019468 2002
49
The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. 62 5
11910337 2002
50
Genetic refinement and physical mapping of a chromosome 16q candidate region for inflammatory bowel disease. 62 57
11781683 2001

Variations for Inflammatory Bowel Disease 1

ClinVar genetic disease variations for Inflammatory Bowel Disease 1:

5 (show top 50) (show all 596)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOD2 NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) DUP Association
Likely Risk Allele; Risk Factor
4691 rs2066847 GRCh37: 16:50763778-50763779
GRCh38: 16:50729867-50729868
2 NOD2 NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) SNV Association
Likely Benign
4693 rs2066844 GRCh37: 16:50745926-50745926
GRCh38: 16:50712015-50712015
3 NOD2 NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) SNV Association
Likely Benign
97856 rs104895467 GRCh37: 16:50750810-50750810
GRCh38: 16:50716899-50716899
4 NOD2 NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) SNV Association
Conflicting Interpretations Of Pathogenicity
Uncertain Significance
4692 rs2066845 GRCh37: 16:50756540-50756540
GRCh38: 16:50722629-50722629
5 HSPA1L NM_005527.4(HSPA1L):c.1673A>C (p.Glu558Ala) SNV Association
372131 rs2227955 GRCh37: 6:31778077-31778077
GRCh38: 6:31810300-31810300
6 HSPA1L NM_005527.4(HSPA1L):c.802G>A (p.Ala268Thr) SNV Association
372132 rs34620296 GRCh37: 6:31778948-31778948
GRCh38: 6:31811171-31811171
7 HSPA1L NM_005527.4(HSPA1L):c.800C>T (p.Thr267Ile) SNV Association
372133 rs139868987 GRCh37: 6:31778950-31778950
GRCh38: 6:31811173-31811173
8 HSPA1L NM_005527.4(HSPA1L):c.229G>A (p.Gly77Ser) SNV Association
372134 rs368138379 GRCh37: 6:31779521-31779521
GRCh38: 6:31811744-31811744
9 HSPA1L NM_005527.4(HSPA1L):c.515_517del (p.Leu172del) DEL Association
372135 rs750447828 GRCh37: 6:31779233-31779235
GRCh38: 6:31811456-31811458
10 PRKCQ NM_006257.5(PRKCQ):c.989C>T (p.Pro330Leu) SNV Pathogenic
586982 rs2236379 GRCh37: 10:6527143-6527143
GRCh38: 10:6485181-6485181
11 NOD2 NM_001370466.1(NOD2):c.1639C>T (p.Gln547Ter) SNV Pathogenic
634817 rs1264862631 GRCh37: 16:50745542-50745542
GRCh38: 16:50711631-50711631
12 NOD2 NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) SNV Pathogenic
4701 rs104895477 GRCh37: 16:50744969-50744969
GRCh38: 16:50711058-50711058
13 NOD2 NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) SNV Pathogenic
4696 rs104895462 GRCh37: 16:50744822-50744822
GRCh38: 16:50710911-50710911
14 NOD2 NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) SNV Pathogenic
4694 rs104895461 GRCh37: 16:50744823-50744823
GRCh38: 16:50710912-50710912
15 NOD2 NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) SNV Pathogenic
97834 rs104895473 GRCh37: 16:50745360-50745360
GRCh38: 16:50711449-50711449
16 NOD2 NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys) SNV Pathogenic
1453223 GRCh37: 16:50745620-50745620
GRCh38: 16:50711709-50711709
17 NOD2 NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys) SNV Likely Pathogenic
97842 rs104895475 GRCh37: 16:50745832-50745832
GRCh38: 16:50711921-50711921
18 NOD2 NM_001370466.1(NOD2):c.2717+158C>T SNV Risk Factor
Likely Benign
4697 rs5743289 GRCh37: 16:50756774-50756774
GRCh38: 16:50722863-50722863
19 IL6, IL6-AS1 NG_011640.1:g.4880C>G SNV Risk Factor
14718 rs1800795 GRCh37: 7:22766645-22766645
GRCh38: 7:22727026-22727026
20 NOD2 NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) SNV Conflicting Interpretations Of Pathogenicity
Benign
97850 rs104895464 GRCh37: 16:50746194-50746194
GRCh38: 16:50712283-50712283
21 NOD2 NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) SNV Conflicting Interpretations Of Pathogenicity
Uncertain Significance
Likely Benign
97885 rs104895427 GRCh37: 16:50744753-50744753
GRCh38: 16:50710842-50710842
22 NOD2 NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) SNV Conflicting Interpretations Of Pathogenicity
Likely Benign
319431 rs61755182 GRCh37: 16:50741791-50741791
GRCh38: 16:50707880-50707880
23 NOD2 NM_001370466.1(NOD2):c.552C>T (p.Ala184=) SNV Uncertain Significance
Benign
319432 rs5743269 GRCh37: 16:50741858-50741858
GRCh38: 16:50707947-50707947
24 NOD2 NM_001370466.1(NOD2):c.726G>A (p.Pro242=) SNV Uncertain Significance
Likely Benign
319436 rs369766454 GRCh37: 16:50744629-50744629
GRCh38: 16:50710718-50710718
25 NOD2 NM_001370466.1(NOD2):c.747G>A (p.Leu249=) SNV Uncertain Significance
319437 rs763504952 GRCh37: 16:50744650-50744650
GRCh38: 16:50710739-50710739
26 NOD2 NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) SNV Uncertain Significance
Likely Benign
319438 rs756943416 GRCh37: 16:50744663-50744663
GRCh38: 16:50710752-50710752
27 NOD2 NM_001370466.1(NOD2):c.778C>T (p.His260Tyr) SNV Uncertain Significance
Likely Benign
319439 rs560242309 GRCh37: 16:50744681-50744681
GRCh38: 16:50710770-50710770
28 NOD2 NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) SNV Uncertain Significance
Likely Benign
319441 rs149338478 GRCh37: 16:50744697-50744697
GRCh38: 16:50710786-50710786
29 NOD2 NM_001370466.1(NOD2):c.1235G>A (p.Arg412His) SNV Uncertain Significance
Likely Benign
319444 rs143110172 GRCh37: 16:50745138-50745138
GRCh38: 16:50711227-50711227
30 NOD2 NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) SNV Uncertain Significance
Benign
319447 rs145190613 GRCh37: 16:50745425-50745425
GRCh38: 16:50711514-50711514
31 NOD2 NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) SNV Uncertain Significance
Benign
319448 rs777949388 GRCh37: 16:50745456-50745456
GRCh38: 16:50711545-50711545
32 NOD2 NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) SNV Uncertain Significance
Likely Benign
319460 rs200035357 GRCh37: 16:50745969-50745969
GRCh38: 16:50712058-50712058
33 NOD2 NM_001370466.1(NOD2):c.1758C>T (p.Phe586=) SNV Uncertain Significance
Benign
319453 rs149870902 GRCh37: 16:50745661-50745661
GRCh38: 16:50711750-50711750
34 NOD2 NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val) SNV Uncertain Significance
319454 rs867131858 GRCh37: 16:50745678-50745678
GRCh38: 16:50711767-50711767
35 NOD2 NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) SNV Uncertain Significance
Uncertain Significance
319455 rs369957746 GRCh37: 16:50745803-50745803
GRCh38: 16:50711892-50711892
36 NOD2 NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) SNV Uncertain Significance
Benign
319456 rs5743275 GRCh37: 16:50745825-50745825
GRCh38: 16:50711914-50711914
37 NOD2 NM_001370466.1(NOD2):c.*8G>A SNV Uncertain Significance
103114 rs199475923 GRCh37: 16:50765738-50765738
GRCh38: 16:50731827-50731827
38 NOD2 NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) SNV Uncertain Significance
Uncertain Significance
97872 rs104895457 GRCh37: 16:50759450-50759450
GRCh38: 16:50725539-50725539
39 NOD2 NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs) DEL Uncertain Significance
859056 rs745991254 GRCh37: 16:50745723-50745741
GRCh38: 16:50711812-50711830
40 NOD2 NM_001370466.1(NOD2):c.2465+1G>A SNV Uncertain Significance
Uncertain Significance
631749 rs373550987 GRCh37: 16:50750582-50750582
GRCh38: 16:50716671-50716671
41 NOD2 NM_001370466.1(NOD2):c.2465+2dup DUP Uncertain Significance
418716 rs748508924 GRCh37: 16:50750582-50750583
GRCh38: 16:50716671-50716672
42 NOD2 NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) SNV Uncertain Significance
Benign
97883 rs104895425 GRCh37: 16:50744703-50744703
GRCh38: 16:50710792-50710792
43 NOD2 NM_001370466.1(NOD2):c.450G>A (p.Pro150=) SNV Uncertain Significance
Benign
319428 rs775281342 GRCh37: 16:50733856-50733856
GRCh38: 16:50699945-50699945
44 NOD2 NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) SNV Uncertain Significance
Uncertain Significance
97848 rs104895443 GRCh37: 16:50746154-50746154
GRCh38: 16:50712243-50712243
45 NOD2 NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) SNV Uncertain Significance
Uncertain Significance
97849 rs104895484 GRCh37: 16:50746193-50746193
GRCh38: 16:50712282-50712282
46 NOD2 NM_001370466.1(NOD2):c.2736T>C (p.Ile912=) SNV Uncertain Significance
Likely Benign
97868 rs104895454 GRCh37: 16:50757230-50757230
GRCh38: 16:50723319-50723319
47 NOD2 NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) SNV Uncertain Significance
Benign
97819 rs104895469 GRCh37: 16:50744892-50744892
GRCh38: 16:50710981-50710981
48 NOD2 NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) SNV Uncertain Significance
Benign
97825 rs104895430 GRCh37: 16:50745103-50745103
GRCh38: 16:50711192-50711192
49 NOD2 NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) SNV Uncertain Significance
Likely Benign
97826 rs104895431 GRCh37: 16:50745114-50745114
GRCh38: 16:50711203-50711203
50 NOD2 NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) SNV Uncertain Significance
Likely Benign
97827 rs104895432 GRCh37: 16:50745143-50745143
GRCh38: 16:50711232-50711232

UniProtKB/Swiss-Prot genetic disease variations for Inflammatory Bowel Disease 1:

73
# Symbol AA change Variation ID SNP ID
1 NOD2 p.Arg702Trp VAR_012689 rs2066844
2 NOD2 p.Gly908Arg VAR_012701 rs2066845

Expression for Inflammatory Bowel Disease 1

Search GEO for disease gene expression data for Inflammatory Bowel Disease 1.

Pathways for Inflammatory Bowel Disease 1

Pathways related to Inflammatory Bowel Disease 1 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 TNFSF15 TLR2 RIPK2 PRKCQ NOD2 NOD1
2 12.17 TNFSF15 TLR2 RIPK2 PRKCQ NOD1
3
Show member pathways
12.05 TLR2 RIPK2 NOD2 NOD1 IL6
4 11.72 TNFSF15 IL6 ATG16L1
5
Show member pathways
11.69 TLR2 IL6 IL23R
6
Show member pathways
11.63 RIPK2 NOD2 NOD1
7
Show member pathways
11.59 TLR2 IL6 IL23R
8 11.45 PRKCQ IL6 IL23R
9 11.29 DEFB4A IL6 NOD2
10
Show member pathways
11.22 RIPK2 NOD2 NOD1
11 11.09 RIPK2 NOD2 NOD1
12
Show member pathways
11.03 TLR2 NOD2 IL6 IL23R
13 10.54 RIPK2 NOD2 NOD1 CARD6

GO Terms for Inflammatory Bowel Disease 1

Biological processes related to Inflammatory Bowel Disease 1 according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 10.36 IL23R IL6 IRGM NOD1 PRKCQ RIPK2
2 regulation of apoptotic process GO:0042981 10.2 RIPK2 NOD2 NOD1 DLG5 CARD6
3 defense response to Gram-negative bacterium GO:0050829 10.19 IRGM IL6 IL23R DEFB4A
4 defense response GO:0006952 10.16 NOD2 NOD1 IRGM DEFB4A
5 positive regulation of interleukin-8 production GO:0032757 10.15 IL6 NOD1 NOD2 TLR2
6 positive regulation of interleukin-1 beta production GO:0032731 10.14 RIPK2 NOD2 NOD1 IL6
7 positive regulation of tumor necrosis factor production GO:0032760 10.13 TLR2 RIPK2 NOD2 NOD1 IL6
8 positive regulation of chemokine production GO:0032722 10.11 TLR2 RIPK2 IL6
9 positive regulation of interleukin-10 production GO:0032733 10.11 TLR2 NOD2 IL6
10 positive regulation of interleukin-12 production GO:0032735 10.1 TLR2 RIPK2 NOD2 IL23R
11 positive regulation of interleukin-6 production GO:0032755 10.1 TLR2 RIPK2 NOD2 NOD1 IL6
12 immune system process GO:0002376 10.07 TLR2 RIPK2 PRKCQ NOD2 NOD1 IRGM
13 positive regulation of macrophage cytokine production GO:0060907 10.05 RIPK2 NOD2 NOD1
14 positive regulation of NF-kappaB transcription factor activity GO:0051092 10 TLR2 RIPK2 PRKCQ NOD2 NOD1 IL6
15 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.95 NOD2 NOD1
16 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.95 IRGM NOD2 RIPK2
17 cellular response to peptidoglycan GO:0071224 9.94 RIPK2 NOD2
18 carnitine transmembrane transport GO:1902603 9.93 SLC22A5 SLC22A4
19 cellular response to muramyl dipeptide GO:0071225 9.93 NOD1 NOD2 RIPK2
20 carnitine transport GO:0015879 9.92 SLC22A4 SLC22A5
21 protein lipidation involved in autophagosome assembly GO:0061739 9.91 IRGM ATG16L1
22 quaternary ammonium group transport GO:0015697 9.91 SLC22A5 SLC22A4
23 detection of biotic stimulus GO:0009595 9.89 NOD1 NOD2
24 positive regulation of stress-activated MAPK cascade GO:0032874 9.86 RIPK2 NOD2 NOD1
25 positive regulation of xenophagy GO:1904417 9.85 NOD1 NOD2 RIPK2
26 response to peptidoglycan GO:0032494 9.83 NOD2 IL6
27 toll-like receptor 2 signaling pathway GO:0034134 9.8 TLR2 RIPK2 NOD2
28 positive regulation of interleukin-17 production GO:0032740 9.76 IL23R IL6 NOD2 PRKCQ
29 stress-activated MAPK cascade GO:0051403 9.74 RIPK2 NOD2 NOD1
30 defense response to Gram-positive bacterium GO:0050830 9.7 TLR2 RIPK2 NOD2 NOD1 IL6 DEFB4A
31 xenophagy GO:0098792 9.23 RIPK2 NOD2 NOD1 ATG16L1

Molecular functions related to Inflammatory Bowel Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidoglycan binding GO:0042834 9.63 TLR2 NOD2 NOD1
2 quaternary ammonium group transmembrane transporter activity GO:0015651 9.62 SLC22A5 SLC22A4
3 carnitine transmembrane transporter activity GO:0015226 9.56 SLC22A5 SLC22A4
4 pattern recognition receptor activity GO:0038187 9.43 TLR2 NOD2 NOD1
5 CARD domain binding GO:0050700 9.23 RIPK2 NOD2 NOD1 IRGM

Sources for Inflammatory Bowel Disease 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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