Inflammatory Bowel Disease 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IBD1 MCID: INF071 MIFTS: 74	Inflammatory Bowel Disease 1 (IBD1) Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Gastrointestinal diseases Bone diseases Blood diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0110892

OMIM® ⁵⁷ 266600

OMIM Phenotypic Series ⁵⁷ PS266600

MeSH ⁴³ D003093 D003424

MedGen ⁴⁰ C0009324 C0010346 C0678202 more

SNOMED-CT via HPO ⁶⁹ 110426005 161832001 21522001 more

UMLS ⁷¹ C0009324 C0010346 C0678202

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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

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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:

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Symptoms & Phenotypes for Inflammatory Bowel Disease 1

Human phenotypes related to Inflammatory Bowel Disease 1:

³⁰ (show all 8)

#	Description	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

Sources

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

Mercaptopurine

Approved

Phase 4

50-44-2

667490

Magnesium citrate

Approved

Phase 4

3344-18-1

Prucalopride

Approved

Phase 4

179474-81-8

3052762

Ondansetron

Approved, Withdrawn

Phase 4

99614-02-5

4595

Phylloquinone

Approved, Investigational

Phase 4

84-80-0

5284607

Nicotine

Approved

Phase 4

54-11-5

942 89594

Linaclotide

Approved

Phase 4

851199-59-2

16158208

Azithromycin

Approved

Phase 4

83905-01-5

447043

Esketamine

Approved, Investigational

Phase 4

33643-46-8

182137

Ketamine

Approved, Vet_approved

Phase 4

6740-88-1, 1867-66-9

3821

Sulfamethazine

Approved, Investigational, Vet_approved

Phase 4

57-68-1

5327

Risedronic acid

Approved, Investigational

Phase 4

105462-24-6

5245

Golimumab

Approved

Phase 4

476181-74-5

Posaconazole

Approved, Investigational, Vet_approved

Phase 4

171228-49-2

147912

Ozanimod

Approved, Investigational

Phase 4

1306760-87-1

25110515 52938427

Mesalazine

Approved

Phase 4

89-57-6

4075

Tofacitinib

Approved, Investigational

Phase 4

477600-75-2

9926791

Benzocaine

Approved, Investigational

Phase 4

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 4

1401-55-4

16129878 16129778

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Methotrexate

Approved

Phase 4

1959-05-2, 59-05-2

4112 126941

Levoleucovorin

Approved, Experimental, Investigational

Phase 4

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Gabapentin

Approved, Investigational

Phase 4

60142-96-3

3446

Celecoxib

Approved, Investigational

Phase 4

169590-42-5

2662

Menadione

Approved, Nutraceutical

Phase 4

58-27-5

4055

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Menaquinone

Investigational

Phase 4

1182-68-9

Picosulfate sodium

Phase 4

Hepcidins

Phase 4

Serotonin Receptor Agonists

Phase 4

Adrenergic Agents

Phase 4

Sympathomimetics

Phase 4

Cyclosporins

Phase 4

Parenteral Nutrition Solutions

Phase 4

Vaccines

Phase 4

Vitamin K

Phase 4

Naphthoquinone

Phase 4

Antifibrinolytic Agents

Phase 4

Hemostatics

Phase 4

Coagulants

Phase 4

Soy Bean

Phase 4

Heptavalent Pneumococcal Conjugate Vaccine

Phase 4

Fat Emulsions, Intravenous

Phase 4

Soybean oil, phospholipid emulsion

Phase 4

Adrenergic beta-Agonists

Phase 4

Adrenergic alpha-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Vasoconstrictor Agents

Phase 4

Mydriatics

Phase 4

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

Sources

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

Sources

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

Sources

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	Rivas MA...Daly MJ	21983784	2011
2	Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. ⁶² ⁵⁷ ⁵	Hugot JP...Thomas G	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	Sawczenko A...Sanderson IR	16150725	2005
4	Somatic inflammatory gene mutations in human ulcerative colitis epithelium. ⁶² ⁵⁷	Nanki K...Sato T	31853059	2020
5	Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis. ⁶² ⁵⁷	Kakiuchi N...Ogawa S	31853061	2020
6	Fine-mapping inflammatory bowel disease loci to single-variant resolution. ⁶² ⁵⁷	Huang H...Barrett JC	28658209	2017
7	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. ⁶² ⁵⁷	Jostins L...Cho JH	23128233	2012
8	Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis. ⁶² ⁵⁷	Iliev ID...Underhill DM	22674328	2012
9	Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease. ⁶² ⁵⁷	Elding H...Maniatis N	22152681	2011
10	Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. ⁶² ⁵⁷	Wang K...Hakonarson H	20176734	2010
11	Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). ⁶² ⁵⁷	Franke A...Schreiber S	20228798	2010
12	Genome-wide association identifies multiple ulcerative colitis susceptibility loci. ⁶² ⁵⁷	McGovern DP...Seielstad M	20228799	2010
13	A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. ⁶² ⁵⁷	Asano K...Kubo M	19915573	2009
14	Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. ⁶² ⁵	Yazdanyar S...Nordestgaard BG	19713276	2009
15	Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort. ⁶² ⁵⁷	Weersma RK...Vermeire S	19174780	2009
16	Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. ⁶² ⁵⁷	Wang K...Hakonarson H	19249008	2009
17	Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. ⁶² ⁵⁷	Silverberg MS...Duerr RH	19122664	2009
18	Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. ⁶² ⁵⁷	Anderson CA...Parkes M	19068216	2009
19	Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. ⁶² ⁵⁷	Franke A...Schreiber S	18836448	2008
20	Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases. ⁶² ⁵⁷	Martinez A...Urcelay E	18759272	2008
21	Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis. ⁶² ⁵⁷	Franke A...Schreiber S	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	Zhernakova A...Weersma RK	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	Shugart YY...Brant SR	18246054	2008
24	New links to the pathogenesis of Crohn disease provided by genome-wide association scans. ⁶² ⁵⁷	Mathew CG	17968351	2008
25	Increased expression and activation of IL-12-induced Stat4 signaling in the mucosa of ulcerative colitis patients. ⁶² ⁵⁷	Pang YH...Zhang WJ	18048021	2007
26	CEACAM6 acts as a receptor for adherent-invasive E. coli, supporting ileal mucosa colonization in Crohn disease. ⁶² ⁵⁷	Barnich N...Darfeuille-Michaud A	17525800	2007
27	Inflammatory bowel disease: cause and immunobiology. ⁶² ⁵⁷	Baumgart DC...Carding SR	17499605	2007
28	Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. ⁶² ⁵⁷	Rioux JD...Brant SR	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	Libioulle C...Georges M	17447842	2007
30	Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease. ⁶² ⁵⁷	Moehle C...Schmitz G	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	Fellermann K...Stange EF	16909382	2006
32	IL-23 is essential for T cell-mediated colitis and promotes inflammation via IL-17 and IL-6. ⁶² ⁵⁷	Yen D...Rennick D	16670770	2006
33	New genes in inflammatory bowel disease: lessons for complex diseases? ⁶² ⁵⁷	Gaya DR...Satsangi J	16631883	2006
34	A NFKB1 promoter polymorphism is involved in susceptibility to ulcerative colitis. ⁶² ⁵⁷	Borm ME...Bouma G	16313306	2005
35	No association of the NFKB1 promoter polymorphism with ulcerative colitis in a British case control cohort. ⁶² ⁵⁷	Mirza MM...Forbes A	16009698	2005
36	A functional polymorphism of the NFKB1 promoter is not associated with ulcerative colitis in a Spanish population. ⁶² ⁵⁷	Oliver J...Martin J	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	Barnich N...Podolsky DK	15753091	2005
38	Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease. ⁶² ⁵⁷	McGovern DP...Jewell DP	15790594	2005
39	Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations. ⁶² ⁵	Li J...Cho JH	15198989	2004
40	Nonclassical CD1d-restricted NK T cells that produce IL-13 characterize an atypical Th2 response in ulcerative colitis. ⁶² ⁵⁷	Fuss IJ...Strober W	15146247	2004
41	Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. ⁶² ⁵⁷	van Heel DA...Genome Scan Meta-Analysis Group of the IBD International Genetics Consortium	14976156	2004
42	Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. ⁶² ⁵	Tukel T...Desnick RJ	15024686	2004
43	Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis. ⁶² ⁵⁷	Karban AS...Brant SR	14613970	2004
44	The adaptive imbalance in base excision-repair enzymes generates microsatellite instability in chronic inflammation. ⁶² ⁵⁷	Hofseth LJ...Harris CC	14679184	2003
45	The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants. ⁶² ⁵⁷	van Heel DA...Lench NJ	12928481	2003
46	A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. ⁶² ⁵	Sugimura K...Yang H	12577202	2003
47	Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. ⁶² ⁵	Chamaillard M...Thomas G	12626759	2003
48	CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. ⁶² ⁵	Vermeire S...Rioux JD	12019468	2002
49	The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. ⁶² ⁵	Cuthbert AP...Mathew CG	11910337	2002
50	Genetic refinement and physical mapping of a chromosome 16q candidate region for inflammatory bowel disease. ⁶² ⁵⁷	Zouali H...GETAID	11781683	2001

Sources

Genes for Inflammatory Bowel Disease 1

Genes related to Inflammatory Bowel Disease 1 (3 elite genes):

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NOD2	Nucleotide Binding Oligomerization Domain Containing 2	Protein Coding	1390.88	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Risk factor ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	11528384 12626759 14522785 (more) 15044951 15459013 15554080 17157607 17207093 17393391 20084402 20199415 22509093 24713464 25093298 25416713 25429073 26606664 12577202 14765395 15024686 19467619 21914217 23102769 26070941
2	IL6	Interleukin 6	Protein Coding	678.94	Molecular basis known ⁵⁷ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ Risk factor ⁵ DISEASES inferred ¹⁴	9769329 11001912 10720087 (more) 11889177 12519862 12719374 15070960 15472205 12560873 17623760 16150725 15331795 16278864
3	PRKCQ	Protein Kinase C Theta	Protein Coding	400	Pathogenic ⁵
4	IL6-AS1	IL6 Antisense RNA 1	RNA Gene	25	Risk factor ⁵	9769329 11001912 10720087 (more) 11889177 12519862 12719374 15070960 15472205 12560873 17623760 16150725 15331795 16278864
5	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	7.14	DISEASES inferred ¹⁴ ¹⁴
6	ATG16L1	Autophagy Related 16 Like 1	Protein Coding	6.22	DISEASES inferred ¹⁴
7	NOD1	Nucleotide Binding Oligomerization Domain Containing 1	Protein Coding	6	DISEASES inferred ¹⁴
8	MIR3936	MicroRNA 3936	RNA Gene	5.86	DISEASES inferred ¹⁴
9	H2AC18	H2A Clustered Histone 18	Protein Coding	5.82	DISEASES inferred ¹⁴ ¹⁴
10	IRGM	Immunity Related GTPase M	Protein Coding	5.72	DISEASES inferred ¹⁴
11	SLC22A4	Solute Carrier Family 22 Member 4	Protein Coding	5.58	DISEASES inferred ¹⁴
12	RIPK2	Receptor Interacting Serine/Threonine Kinase 2	Protein Coding	5.5	DISEASES inferred ¹⁴
13	TNFSF15	TNF Superfamily Member 15	Protein Coding	5.49	DISEASES inferred ¹⁴
14	DLG5	Discs Large MAGUK Scaffold Protein 5	Protein Coding	5.32	DISEASES inferred ¹⁴
15	IL23R	Interleukin 23 Receptor	Protein Coding	5.18	DISEASES inferred ¹⁴
16	DEFB4A	Defensin Beta 4A	Protein Coding	4.98	DISEASES inferred ¹⁴
17	SLC22A5	Solute Carrier Family 22 Member 5	Protein Coding	4.98	DISEASES inferred ¹⁴
18	PLA2G4F	Phospholipase A2 Group IVF	Protein Coding	4.82	DISEASES inferred ¹⁴
19	TLR2	Toll Like Receptor 2	Protein Coding	4.64	DISEASES inferred ¹⁴
20	CARD6	Caspase Recruitment Domain Family Member 6	Protein Coding	4.6	DISEASES inferred ¹⁴
21	TMEM201	Transmembrane Protein 201	Protein Coding	4.58	DISEASES inferred ¹⁴
22	TNF	Tumor Necrosis Factor	Protein Coding	4.56	DISEASES inferred ¹⁴
23	IGSF6	Immunoglobulin Superfamily Member 6	Protein Coding	4.55	DISEASES inferred ¹⁴
24	CARD9	Caspase Recruitment Domain Family Member 9	Protein Coding	4.54	DISEASES inferred ¹⁴
25	PTPN2	Protein Tyrosine Phosphatase Non-Receptor Type 2	Protein Coding	4.46	DISEASES inferred ¹⁴
26	IL17A	Interleukin 17A	Protein Coding	4.46	DISEASES inferred ¹⁴
27	GATB	Glutamyl-TRNA Amidotransferase Subunit B	Protein Coding	4.46	DISEASES inferred ¹⁴
28	TLR4	Toll Like Receptor 4	Protein Coding	4.4	DISEASES inferred ¹⁴
29	PPM1L	Protein Phosphatase, Mg2+/Mn2+ Dependent 1L	Protein Coding	4.4	DISEASES inferred ¹⁴
30	MYSM1	Myb Like, SWIRM And MPN Domains 1	Protein Coding	4.38	DISEASES inferred ¹⁴
31	IL10	Interleukin 10	Protein Coding	4.35	DISEASES inferred ¹⁴
32	IL1B	Interleukin 1 Beta	Protein Coding	4.32	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Inflammatory Bowel Disease 1

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

Sources

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	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.75	TNFSF15 TLR2 RIPK2 PRKCQ NOD2 NOD1
2	NF-kappaB Signaling ³	12.17	TNFSF15 TLR2 RIPK2 PRKCQ NOD1
3	Toll-Like receptor Signaling Pathways ⁶⁵ Show member pathways Inflammasome Activation Pathways ⁶⁵ Nanomaterial-induced inflammasome activation ⁷⁴ NOD-like Receptor Signaling Pathways ⁶⁵ TLR4 signaling and tolerance ⁷⁴ Toll-Like Receptors Pathway ⁶⁴	12.05	TLR2 RIPK2 NOD2 NOD1 IL6
4	Senescence and autophagy in cancer ⁷⁴	11.72	TNFSF15 IL6 ATG16L1
5	IL27-mediated signaling events ⁶¹ Show member pathways IL12 signaling pathway ⁶⁷ Th1 Differentiation ⁶⁵	11.69	TLR2 IL6 IL23R
6	Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways ⁶⁶ Show member pathways NOD1/2 Signaling Pathway ⁶⁶	11.63	RIPK2 NOD2 NOD1
7	Th17 Differentiation ⁶⁵ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.59	TLR2 IL6 IL23R
8	Th17 cell differentiation pathway ⁷⁴	11.45	PRKCQ IL6 IL23R
9	Non-genomic actions of 1,25 dihydroxyvitamin D3 ⁷⁴	11.29	DEFB4A IL6 NOD2
10	activated TAK1 mediates p38 MAPK activation ⁶⁶ Show member pathways JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1 ⁶⁶	11.22	RIPK2 NOD2 NOD1
11	Ovarian tumor domain proteases ⁶⁶	11.09	RIPK2 NOD2 NOD1
12	Inflammatory bowel disease signaling ⁷⁴ Show member pathways Ulcerative colitis signaling ⁷⁴	11.03	TLR2 NOD2 IL6 IL23R
13	Nucleotide-binding oligomerization domain (NOD) pathway ⁷⁴	10.54	RIPK2 NOD2 NOD1 CARD6

Sources

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