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MCID: INF071
MIFTS: 53

Inflammatory Bowel Disease 1

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases, Bone diseases, Blood diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Inflammatory Bowel Disease 1

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MalaCards integrated aliases for Inflammatory Bowel Disease 1:

Name: Inflammatory Bowel Disease 1 57 75
Inflammatory Bowel Disease 1 12 75 29 6 15
Crohn Disease-Associated Growth Failure 57 75 13
Ibd1 57 12 75
Ulcerative Colitis 75 73
Regional Enteritis 75 73
Crohn Disease 75 73
Crohn Disease-Associated Growth Failure, Susceptibility to 6
Inflammatory Bowel Disease 1 , Susceptibility to 6
Inflammatory Bowel Disease 1, Crohn Disease 57
Bowel Disease, Inflammatory, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
multifactorial

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)


HPO:

32
inflammatory bowel disease 1:
Inheritance heterogeneous multifactorial inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Gastrointestinal diseases Bone diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Inflammatory Bowel Disease 1

About this section
UniProtKB/Swiss-Prot : 75 Inflammatory bowel disease 1: 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 crohn's disease and inflammatory bowel disease, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Inflammatory Bowel Disease 1 is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are Pertussis and Shigellosis. The drugs Adalimumab and Infliximab have been mentioned in the context of this disorder. Affiliated tissues include colon, bone and t cells, and related phenotypes are abdominal pain and weight loss

Disease Ontology : 12 An inflammatory bowel disease that has material basis in mutations in the NOD2 gene on chromosome 16q12.1.

Description from OMIM: 266600
Sources

Related Diseases for Inflammatory Bowel Disease 1

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Diseases in the Inflammatory Bowel Disease 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 28 Inflammatory Bowel Disease 25

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 crohn's disease 31.3 IL6 NOD2 SLC22A4 SLC22A5
2 inflammatory bowel disease 26.4 HSPA1L IL6 NOD1 NOD2 SLC22A4 SLC22A5
3 ulcerative colitis 12.8
4 pediatric ulcerative colitis 12.3
5 crohn's colitis 11.4
6 thiopurines, poor metabolism of, 1 11.1
7 inflammatory bowel disease 10 10.9
8 inflammatory bowel disease 13 10.9
9 inflammatory bowel disease 14 10.9
10 inflammatory bowel disease 17 10.9
11 inflammatory bowel disease 19 10.9
12 inflammatory bowel disease 25, autosomal recessive 10.9
13 inflammatory bowel disease 28, autosomal recessive 10.9
14 bile acid malabsorption, primary 10.8
15 autoimmune disease 6 10.8
16 short bowel syndrome 10.8
17 inflammatory bowel disease 2 10.2 HOGA1 NOD2
18 mesenteric lymphadenitis 10.2 IL6 NOD2
19 inflammatory bowel disease 4 10.1 HOGA1 NOD2
20 colitis 10.1
21 ileitis 10.1 IL6 NOD2
22 mastitis 10.1 IL6 NOD2
23 pneumoconiosis 10.0 HSPA1L IL6
24 intestinal disease 9.9 IL6 NOD2
25 inflammatory bowel disease 9 9.8 NOD1 NOD2
26 lymphoproliferative syndrome, x-linked, 2 9.8 NOD1 NOD2
27 blau syndrome 9.7 NOD1 NOD2
28 spondylitis 9.6 IL6 NOD2
29 inflammatory bowel disease 5 9.5 NOD2 SLC22A4 SLC22A5
30 inflammatory bowel disease 3 9.3 HOGA1 NOD1 NOD2

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
Sources

Symptoms & Phenotypes for Inflammatory Bowel Disease 1

About this section

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Inflammatory Bowel Disease 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abdominal pain 32 HP:0002027
2 weight loss 32 HP:0001824
3 growth delay 32 HP:0001510
4 intestinal obstruction 32 HP:0005214
5 diarrhea 32 HP:0002014
6 recurrent aphthous stomatitis 32 HP:0011107
7 ulcerative colitis 32 HP:0100279

UMLS symptoms related to Inflammatory Bowel Disease 1:


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

Drugs & Therapeutics for Inflammatory Bowel Disease 1

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

(show top 50) (show all 422)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 331731-18-1 16219006
2
Infliximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 170277-31-3
3
Clarithromycin Approved Phase 4,Phase 3 81103-11-9 84029
4
Clofazimine Approved, Investigational Phase 4,Phase 3 2030-63-9 2794
5
Rifabutin Approved, Investigational Phase 4,Phase 3 72559-06-9 6323490
6
Hydrocortisone Approved, Vet_approved Phase 4,Not Applicable 50-23-7 5754
7
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
8
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 83-43-2 6741
9
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-24-8 5755
10
Certolizumab pegol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 428863-50-7
11
Azathioprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 446-86-6 2265
12
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1994-09-7, 94-09-7 2337
13
Iron Approved Phase 4,Phase 3,Phase 2,Not Applicable 7439-89-6 23925
14 Vedolizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 943609-66-3
15
Azithromycin Approved Phase 4 83905-01-5 55185 447043
16
Metronidazole Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 443-48-1 4173
17
Budesonide Approved Phase 4,Phase 3,Phase 2,Phase 1 51333-22-3 63006 5281004
18
Methotrexate Approved Phase 4,Phase 3,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
19
Etidronic acid Approved Phase 4 7414-83-7, 2809-21-4 3305
20
Natalizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 189261-10-7
21
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
22
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
23
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 73590-58-6 4594
24
Ciprofloxacin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 85721-33-1 2764
25
Ondansetron Approved Phase 4,Phase 3 99614-02-5 4595
26
Everolimus Approved Phase 4 159351-69-6 6442177
27
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
28
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
29
Dextromethorphan Approved Phase 4,Phase 1 125-71-3 5360696 5362449
30
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 93-14-1 3516
31
Losartan Approved Phase 4 114798-26-4 3961
32
Thioguanine Approved Phase 4 154-42-7 2723601
33
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 564-25-0 54671203
34
Vancomycin Approved Phase 4,Phase 2 1404-90-6 441141 14969
35
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
36
Sulfamethazine Approved, Investigational, Vet_approved Phase 4 57-68-1 5327
37
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
38
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-14-6 5280793
39 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 1406-16-2
41
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59-30-3 6037
42
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 67-97-0 6221 5280795
43
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 58-05-9 143 6006
44
Menadione Approved, Nutraceutical Phase 4,Phase 1 58-27-5 4055
45
Phytonadione Approved, Investigational, Nutraceutical Phase 4,Phase 1 84-80-0 4812 5284607
46
Caffeine Approved, Nutraceutical Phase 4,Phase 1 58-08-2 2519
47 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 1184)
# Name Status NCT ID Phase Drugs
1 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 Unknown status NCT01632462 Phase 4 VSL#3
2 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
3 The Effect of Probiotics on Exacerbation of Inflammatory Bowel Disease Exacerbation (Crohn's Disease) Unknown status NCT01765998 Phase 4 Probiotic;Placebo
4 Treatment of Crohn's Disease With an Antibiotic Regimen Directed Against Mycobacterium Avium Paratuberculosis Unknown status NCT00513552 Phase 4 Rifabutin, Clarithromycin, and Clofazimine
5 Effects of Enteral Nutrition and Corticosteroid on Intestinal Flora in Induction Remission of Crohn Disease in Adult Unknown status NCT02056418 Phase 4 corticosteroid
6 Discontinuation of Infliximab Therapy in Patients With Crohn's Disease During Sustained Complete Remission Unknown status NCT01817426 Phase 4 Infliximab
7 Evaluation of PET CT in the Management of Patients With Crohn's Disease. Unknown status NCT00731809 Phase 4
8 Comparison of 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
9 Adverse Effects of Glucocorticoid Therapy on Bone in Childhood Crohn's Disease Unknown status NCT00609752 Phase 4 prednisolone
10 VSL#3 Treatment in Children With Crohn's Disease Unknown status NCT00367705 Phase 4
11 Optimizing Cimzia in Crohn's Patients Unknown status NCT01024647 Phase 4
12 The Effect of Probiotics on the Rate of Recovery of Inflammatory Bowel Disease Exacerbation, Endothelial Function, and Markers of Inflammation Unknown status NCT01078935 Phase 4
13 "Efficacy and Safety of Infliximab-biosimilar (Inflectra) Compared to Infliximab-innovator (Remicade) in Patients With Inflammatory Bowel Disease in Remission: the SIMILAR Trial" Unknown status NCT02452151 Phase 4 Infliximab-Biosimilar;Infliximab-Innovator
14 Precision Dosing of Infliximab Versus Conventional Dosing of Infliximab Unknown status NCT02453776 Phase 4 PRECISION dosing Infliximab
15 Manipulation of Visceral Sensitivity and Immune System in IBS Unknown status NCT00418340 Phase 4 probiotic (bacterial/dietary supplement)
16 Prucalopride Prior to Small Bowel Capsule Endoscopy Unknown status NCT02806206 Phase 4 Prucalopride;Placebo
17 SECOND GENERATION COLON CAPSULE ENDOSCOPY (CCE-2) IN PEDIATRIC CROHN'S DISEASE (CD). Completed NCT02199626 Phase 4
18 Efficacy Study of Pneumococcal Vaccination in Crohn's Disease Completed NCT01505855 Phase 4 23-valent polysaccharide pneumococcal vaccine
19 Rapidity of Response to Adalimumab Treatment in Patients With Crohn´s Disease Completed NCT02148718 Phase 4
20 Diagnostic Accuracy of Capsule Endoscopy in Small Bowel Crohn's Disease Completed NCT00588653 Phase 4
21 Trial of a Treatment Algorithm for the Management of Crohn's Disease Completed NCT01030809 Phase 4
22 A Study Comparing the Acceptability of Pentasa® Sachets Versus Pentasa® Tablets in Children With Crohn´s Disease Completed NCT00225810 Phase 4 Crohn's Disease
23 Study Investigating Tailored Treatment With Infliximab for Active Crohn's Disease Completed NCT01442025 Phase 4 Infliximab;Infliximab;Infliximab
24 The Efficacy of Open Label Infliximab for the Induction and Maintenance of Mucosal Healing in Small Bowel Crohn's Disease Assessed Through Wireless Camera Endoscopy Completed NCT01181765 Phase 4
25 VSL#3 Versus Placebo in Maintenance of Remission in Crohn's Disease Completed NCT00114465 Phase 4 VSL#3
26 Evaluation of the Applicability of the CDEIS to Data Obtained by the Colonic Capsule Endoscopy in Crohn Disease Completed NCT01183845 Phase 4
27 Infliximab for the Prevention of Recurrent Crohn's Disease After Surgery Completed NCT00688636 Phase 4 infliximab;placebo
28 Azithromycin Based Therapy for Induction of Remission in Active Pediatric Crohn's Disease Completed NCT01596894 Phase 4 Azithromycin + Metronidazole;Metronidazole
29 Top Down Versus Step Up Strategies in Crohn's Disease Completed NCT00554710 Phase 4 infliximab+azathioprine;methylprednisolone or budesonide
30 Adalimumab-psoriasis and Small Bowel Lesions Completed NCT01556672 Phase 4 Adalimumab
31 The Effect of Vitamin D3 to Maintain Surgical Remission in Postoperative Crohn's Disease Completed NCT02010762 Phase 4 Vitamin D;Placebo
32 Risedronate Therapy in the Treatment of Low Bone Mineral Density in Crohn's Disease Completed NCT01215890 Phase 4 risedronate;placebo
33 Vitamin D Supplementation in Adult Crohn's Disease Completed NCT01369667 Phase 4
34 Early Immunosuppressants in Crohn's Disease Completed NCT00546546 Phase 4 early immunosuppressants (azathioprine, methotrexate)
35 Endoscopic Detection of Dysplasia in Crohn 's Disease Patient Completed NCT01180452 Phase 4
36 Open Label Natalizumab Safety Extension Study for Subjects With Crohn's Disease Completed NCT00280956 Phase 4 natalizumab
37 Vitamin D in Pediatric Crohn's Disease Completed NCT01187459 Phase 4
38 The Effect of Vitamin K Supplementation on Bone Health in Adult Crohn's Disease Patients Completed NCT01235325 Phase 4
39 Pneumococcal Vaccination of Crohn Patients Completed NCT01947010 Phase 4
40 Immune Modulation by Parenteral Fish Oil in Patients With Crohn's Disease Completed NCT02349594 Phase 4 Omegaven 10%;Intralipid 20%
41 Vitd and Barrier Function in IBD Completed NCT01792388 Phase 4
42 The NOR-SWITCH Study Completed NCT02148640 Phase 4 Innovator infliximab;Biosimilar infliximab
43 Endoscopic Ultrasound (EUS) Guided Treatment With Humira for Crohn's Perianal Fistulas Completed NCT00517296 Phase 4 adalimumab
44 Safety of Accelerated Infliximab Infusions in Patients With Inflammatory Bowel Disease (IBD) Completed NCT01346826 Phase 4 Standard 2 hours-infusion;Accelerated 1 hour-infusion;Accelerated 30 minutes-infusion
45 Centocor Microarray Study of Patients Completed NCT00462072 Phase 4 Infliximab
46 Treatment of Iron Deficiency Anaemia in Inflammatory Bowel Disease With Ferrous Sulphate Completed NCT01991314 Phase 4 Ferrous sulphate
47 Induction of Immunity Against Streptococcus Pneumoniae in Adults With Inflammatory Bowel Disease Completed NCT01908283 Phase 4
48 Immunogenicity of Hepatitis A Vaccine in Inflammatory Bowel Disease (IBD) Patients Completed NCT01341808 Phase 4
49 The Influence of 5–Aminosalicylates on Thiopurine Metabolite Levels Completed NCT00167882 Phase 4 5-aminosalicylate (Pentasa, Ferring)
50 Intestinal Inflammation in Ankylosing Spondylitis and the Effects of Adalimumab on Mucosal Healing Completed NCT01174186 Phase 4 Adalimumab

Search NIH Clinical Center for Inflammatory Bowel Disease 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :
Sources

Genetic Tests for Inflammatory Bowel Disease 1

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Genetic tests related to Inflammatory Bowel Disease 1:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 1 29 IL6 NOD2
Sources

Anatomical Context for Inflammatory Bowel Disease 1

About this section

MalaCards organs/tissues related to Inflammatory Bowel Disease 1:

41
Colon, Bone, T Cells, Skin, Testes, Eye, Brain
Sources

Publications for Inflammatory Bowel Disease 1

About this section

Articles related to Inflammatory Bowel Disease 1:

# Title Authors Year
1
The mouse and human IGSF6 (DORA) genes map to the inflammatory bowel disease 1 locus and are embedded in an intron of a gene of unknown function. ( 11132146 )
2000
2
Inflammatory bowel disease. 1: Aetiology and pathogenesis. ( 10670307 )
1999
3
Inflammatory bowel disease. 1. Origins, presentation, and course. ( 9590987 )
1998
4
Inflammatory bowel disease (1) ( 1881418 )
1991
Sources

Variations for Inflammatory Bowel Disease 1

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

75
# Symbol AA change Variation ID SNP ID
1 NOD2 p.Arg702Trp VAR_012689 rs2066844
2 NOD2 p.Gly908Arg VAR_012701 rs2066845

ClinVar genetic disease variations for Inflammatory Bowel Disease 1:

6
(show top 50) (show all 111)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOD2 NM_022162.2(NOD2): c.3019dupC (p.Leu1007Profs) duplication risk factor rs2066847 GRCh38 Chromosome 16, 50729870: 50729870
2 NOD2 NM_022162.2(NOD2): c.3019dupC (p.Leu1007Profs) duplication risk factor rs2066847 GRCh37 Chromosome 16, 50763781: 50763781
3 NOD2 NM_022162.2(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh37 Chromosome 16, 50756540: 50756540
4 NOD2 NM_022162.2(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh38 Chromosome 16, 50722629: 50722629
5 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh37 Chromosome 16, 50745926: 50745926
6 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh38 Chromosome 16, 50712015: 50712015
7 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh37 Chromosome 16, 50744822: 50744822
8 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh38 Chromosome 16, 50710911: 50710911
9 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh37 Chromosome 16, 50756774: 50756774
10 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh38 Chromosome 16, 50722863: 50722863
11 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh37 Chromosome 16, 50744969: 50744969
12 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh38 Chromosome 16, 50711058: 50711058
13 IL6 IL6, -174G-C single nucleotide variant risk factor
14 NOD2 NM_022162.2(NOD2): c.2555A> G (p.Asn852Ser) single nucleotide variant risk factor rs104895467 GRCh37 Chromosome 16, 50750810: 50750810
15 NOD2 NM_022162.2(NOD2): c.2555A> G (p.Asn852Ser) single nucleotide variant risk factor rs104895467 GRCh38 Chromosome 16, 50716899: 50716899
16 NOD2 NM_022162.2(NOD2): c.2107C> T (p.Arg703Cys) single nucleotide variant Likely benign rs5743277 GRCh37 Chromosome 16, 50745929: 50745929
17 NOD2 NM_022162.2(NOD2): c.2107C> T (p.Arg703Cys) single nucleotide variant Likely benign rs5743277 GRCh38 Chromosome 16, 50712018: 50712018
18 NOD2 NM_022162.2(NOD2): c.1833C> T (p.Ala611=) single nucleotide variant Benign/Likely benign rs61736932 GRCh37 Chromosome 16, 50745655: 50745655
19 NOD2 NM_022162.2(NOD2): c.1833C> T (p.Ala611=) single nucleotide variant Benign/Likely benign rs61736932 GRCh38 Chromosome 16, 50711744: 50711744
20 NOD2 NM_022162.2(NOD2): c.2123G> A (p.Arg708His) single nucleotide variant Benign/Likely benign rs35285618 GRCh38 Chromosome 16, 50712034: 50712034
21 NOD2 NM_022162.2(NOD2): c.2123G> A (p.Arg708His) single nucleotide variant Benign/Likely benign rs35285618 GRCh37 Chromosome 16, 50745945: 50745945
22 NOD2 NM_022162.2(NOD2): c.2174C> G (p.Ala725Gly) single nucleotide variant Benign rs5743278 GRCh38 Chromosome 16, 50712085: 50712085
23 NOD2 NM_022162.2(NOD2): c.2174C> G (p.Ala725Gly) single nucleotide variant Benign rs5743278 GRCh37 Chromosome 16, 50745996: 50745996
24 NOD2 NM_022162.2(NOD2): c.2264C> T (p.Ala755Val) single nucleotide variant Likely benign rs61747625 GRCh38 Chromosome 16, 50712175: 50712175
25 NOD2 NM_022162.2(NOD2): c.2264C> T (p.Ala755Val) single nucleotide variant Likely benign rs61747625 GRCh37 Chromosome 16, 50746086: 50746086
26 NOD2 NM_022162.2(NOD2): c.566C> T (p.Thr189Met) single nucleotide variant Likely benign rs61755182 GRCh37 Chromosome 16, 50741791: 50741791
27 NOD2 NM_022162.2(NOD2): c.566C> T (p.Thr189Met) single nucleotide variant Likely benign rs61755182 GRCh38 Chromosome 16, 50707880: 50707880
28 NOD2 NM_022162.2(NOD2): c.1269G> T (p.Val423=) single nucleotide variant Benign/Likely benign rs77966199 GRCh37 Chromosome 16, 50745091: 50745091
29 NOD2 NM_022162.2(NOD2): c.1269G> T (p.Val423=) single nucleotide variant Benign/Likely benign rs77966199 GRCh38 Chromosome 16, 50711180: 50711180
30 NOD2 NM_022162.2(NOD2): c.140C> T (p.Ser47Leu) single nucleotide variant Uncertain significance rs201586544 GRCh37 Chromosome 16, 50733465: 50733465
31 NOD2 NM_022162.2(NOD2): c.140C> T (p.Ser47Leu) single nucleotide variant Uncertain significance rs201586544 GRCh38 Chromosome 16, 50699554: 50699554
32 NOD2 NM_022162.2(NOD2): c.541-3T> C single nucleotide variant Benign/Likely benign rs141833420 GRCh38 Chromosome 16, 50707852: 50707852
33 NOD2 NM_022162.2(NOD2): c.541-3T> C single nucleotide variant Benign/Likely benign rs141833420 GRCh37 Chromosome 16, 50741763: 50741763
34 NOD2 NM_022162.2(NOD2): c.866A> G (p.Asn289Ser) single nucleotide variant Benign/Likely benign rs5743271 GRCh37 Chromosome 16, 50744688: 50744688
35 NOD2 NM_022162.2(NOD2): c.866A> G (p.Asn289Ser) single nucleotide variant Benign/Likely benign rs5743271 GRCh38 Chromosome 16, 50710777: 50710777
36 NOD2 NM_022162.2(NOD2): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs554887705 GRCh38 Chromosome 16, 50711083: 50711083
37 NOD2 NM_022162.2(NOD2): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs554887705 GRCh37 Chromosome 16, 50744994: 50744994
38 NOD2 NM_022162.2(NOD2): c.2050C> T (p.Arg684Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5743276 GRCh38 Chromosome 16, 50711961: 50711961
39 NOD2 NM_022162.2(NOD2): c.2050C> T (p.Arg684Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5743276 GRCh37 Chromosome 16, 50745872: 50745872
40 NOD2 NM_022162.2(NOD2): c.2494A> G (p.Ile832Val) single nucleotide variant Uncertain significance rs765335094 GRCh38 Chromosome 16, 50716618: 50716618
41 NOD2 NM_022162.2(NOD2): c.2494A> G (p.Ile832Val) single nucleotide variant Uncertain significance rs765335094 GRCh37 Chromosome 16, 50750529: 50750529
42 HSPA1L NM_005527.3(HSPA1L): c.1673A> C (p.Glu558Ala) single nucleotide variant association rs2227955 GRCh38 Chromosome 6, 31810300: 31810300
43 HSPA1L NM_005527.3(HSPA1L): c.1673A> C (p.Glu558Ala) single nucleotide variant association rs2227955 GRCh37 Chromosome 6, 31778077: 31778077
44 HSPA1L NM_005527.3(HSPA1L): c.802G> A (p.Ala268Thr) single nucleotide variant association rs34620296 GRCh38 Chromosome 6, 31811171: 31811171
45 HSPA1L NM_005527.3(HSPA1L): c.802G> A (p.Ala268Thr) single nucleotide variant association rs34620296 GRCh37 Chromosome 6, 31778948: 31778948
46 HSPA1L NM_005527.3(HSPA1L): c.800C> T (p.Thr267Ile) single nucleotide variant association rs139868987 GRCh37 Chromosome 6, 31778950: 31778950
47 HSPA1L NM_005527.3(HSPA1L): c.800C> T (p.Thr267Ile) single nucleotide variant association rs139868987 GRCh38 Chromosome 6, 31811173: 31811173
48 HSPA1L NM_005527.3(HSPA1L): c.515_517delTAA (p.Leu172del) deletion association rs750447828 GRCh38 Chromosome 6, 31811456: 31811458
49 HSPA1L NM_005527.3(HSPA1L): c.515_517delTAA (p.Leu172del) deletion association rs750447828 GRCh37 Chromosome 6, 31779233: 31779235
50 HSPA1L NM_005527.3(HSPA1L): c.229G> A (p.Gly77Ser) single nucleotide variant association rs368138379 GRCh38 Chromosome 6, 31811744: 31811744
Sources

Expression for Inflammatory Bowel Disease 1

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

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

# Super pathways Score Top Affiliating Genes
1
Pertussis 37
11.2 IL6 NOD1
2
Shigellosis 37
11.07 NOD1 NOD2
3
Legionellosis 37
10.9 HSPA1L IL6
4
Nucleotide-binding Oligomerization Domain (NOD) pathway 1
10.57 NOD1 NOD2
5
Ovarian tumor domain proteases 66
10.19 NOD1 NOD2
Sources

GO Terms for Inflammatory Bowel Disease 1

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.13 NOD1 SLC22A4 SLC22A5
2 COP9 signalosome GO:0008180 8.62 HSPA1L NOD2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.8 IL6 NOD1 NOD2
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.67 IL6 NOD1 NOD2
3 negative regulation of NF-kappaB transcription factor activity GO:0032088 9.64 NOD1 NOD2
4 regulation of inflammatory response GO:0050727 9.64 NOD1 NOD2
5 protein complex oligomerization GO:0051259 9.63 NOD1 NOD2
6 positive regulation of JNK cascade GO:0046330 9.63 NOD1 NOD2
7 positive regulation of B cell activation GO:0050871 9.62 IL6 NOD2
8 JNK cascade GO:0007254 9.61 NOD1 NOD2
9 regulation of cytokine production GO:0001817 9.61 NOD1 NOD2
10 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.6 NOD1 NOD2
11 positive regulation of tumor necrosis factor production GO:0032760 9.59 NOD1 NOD2
12 sodium-independent organic anion transport GO:0043252 9.58 SLC22A4 SLC22A5
13 signaling GO:0023052 9.58 NOD1 NOD2
14 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.57 NOD1 NOD2
15 organic anion transport GO:0015711 9.56 SLC22A4 SLC22A5
16 negative regulation of immune response GO:0050777 9.55 NOD1 NOD2
17 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.54 NOD1 NOD2
18 positive regulation of stress-activated MAPK cascade GO:0032874 9.52 NOD1 NOD2
19 organic cation transport GO:0015695 9.51 SLC22A4 SLC22A5
20 positive regulation of interleukin-1 beta production GO:0032731 9.48 NOD1 NOD2
21 carnitine transport GO:0015879 9.46 SLC22A4 SLC22A5
22 detection of bacterium GO:0016045 9.43 NOD1 NOD2
23 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.4 NOD1 NOD2
24 carnitine metabolic process GO:0009437 9.37 SLC22A4 SLC22A5
25 quaternary ammonium group transport GO:0015697 9.32 SLC22A4 SLC22A5
26 cellular response to muramyl dipeptide GO:0071225 9.26 NOD1 NOD2
27 carnitine transmembrane transport GO:1902603 9.16 SLC22A4 SLC22A5
28 positive regulation of interleukin-6 production GO:0032755 9.13 IL6 NOD1 NOD2
29 detection of biotic stimulus GO:0009595 8.62 NOD1 NOD2

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.77 HSPA1L NOD1 NOD2 SLC22A4 SLC22A5
2 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.46 SLC22A4 SLC22A5
3 organic anion transmembrane transporter activity GO:0008514 9.43 SLC22A4 SLC22A5
4 inorganic anion exchanger activity GO:0005452 9.4 SLC22A4 SLC22A5
5 peptidoglycan binding GO:0042834 9.32 NOD1 NOD2
6 CARD domain binding GO:0050700 9.26 NOD1 NOD2
7 carnitine transmembrane transporter activity GO:0015226 9.16 SLC22A4 SLC22A5
8 quaternary ammonium group transmembrane transporter activity GO:0015651 8.96 SLC22A4 SLC22A5
9 cation:cation antiporter activity GO:0015491 8.62 SLC22A4 SLC22A5
Sources

Sources for Inflammatory Bowel Disease 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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