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IBD1
MCID: INF071
MIFTS: 53

Inflammatory Bowel Disease 1 (IBD1)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Inflammatory Bowel Disease 1

About this section

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, 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 ileitis and crohn's disease, 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 Pertussis and Shigellosis. The drugs Adalimumab and Infliximab have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and small intestine, 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.

Genetics Home Reference : 25 Crohn disease is a complex, long-lasting (chronic) disorder that primarily affects the digestive system. This condition involves an abnormal immune response that causes excess inflammation. It most often affects the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). However, inflammation can occur in any part of the digestive system, from the mouth to the anus. The inflamed tissues become thick and swollen, and the inner surfaces of the digestive system may develop open sores (ulcers).

Description from OMIM: 266600
Sources

Related Diseases for Inflammatory Bowel Disease 1

About this section

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 29 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 top 50) (show all 705)
# Related Disease Score Top Affiliating Genes
1 ileitis 30.9 IL6 NOD2
2 crohn's disease 30.2 NOD2 SLC22A4 SLC22A5
3 spondylitis 30.1 IL6 NOD2
4 inflammatory bowel disease 2 29.9 HOGA1 NOD2
5 intestinal disease 29.8 IL6 NOD2
6 mesenteric lymphadenitis 29.6 IL6 NOD2
7 inflammatory bowel disease 5 29.5 NOD2 SLC22A4 SLC22A5
8 blau syndrome 29.2 NOD1 NOD2
9 bacterial infectious disease 29.2 IL6 NOD1 NOD2
10 inflammatory bowel disease 29.0 HSPA1L IL6 NOD1 NOD2 SLC22A4 SLC22A5
11 pediatric ulcerative colitis 12.5
12 ulcerative proctitis 11.7
13 colorectal cancer 11.6
14 irritable bowel syndrome 11.6
15 pouchitis 11.6
16 pyoderma gangrenosum 11.5
17 colonic disease 11.4
18 bile duct cancer 11.4
19 inflammatory bowel disease 10 11.3
20 inflammatory bowel disease 13 11.3
21 inflammatory bowel disease 14 11.3
22 inflammatory bowel disease 17 11.3
23 inflammatory bowel disease 19 11.3
24 inflammatory bowel disease 25, autosomal recessive 11.3
25 inflammatory bowel disease 28, autosomal recessive 11.3
26 inflammatory bowel disease 29 11.1
27 polyposis syndrome, hereditary mixed, 1 11.1
28 colorectal cancer 1 11.1
29 colorectal cancer 3 11.1
30 colorectal cancer 10 11.1
31 autoimmune disease 6 11.1
32 colorectal cancer 12 11.1
33 fecal incontinence 11.1
34 chemical colitis 11.1
35 collagenous gastritis 11.1
36 bile acid malabsorption, primary 10.9
37 short bowel syndrome 10.9
38 sclerosing cholangitis 10.7
39 cholangitis 10.7
40 cholangitis, primary sclerosing 10.7
41 pyoderma 10.6
42 megacolon 10.5
43 toxic megacolon 10.5
44 thrombosis 10.5
45 proctitis 10.5
46 familial adenomatous polyposis 10.4
47 cytomegalovirus infection 10.4
48 dengue shock syndrome 10.4
49 adenocarcinoma 10.4
50 lymphoma 10.4

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:


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

Drugs & Therapeutics for Inflammatory Bowel Disease 1

About this section

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

(show top 50) (show all 437)
# 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
Clofazimine Approved, Investigational Phase 4,Phase 3 2030-63-9 2794
4
Clarithromycin Approved Phase 4,Phase 3 81103-11-9 84029
5
Rifabutin Approved, Investigational Phase 4,Phase 3 72559-06-9 6323490
6
Hydrocortisone acetate Approved, Vet_approved Phase 4,Not Applicable 50-03-3
7
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
8
Hydrocortisone Approved, Vet_approved Phase 4,Not Applicable 50-23-7 5754
9
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 302-25-0
10
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-24-8 5755
11
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 83-43-2 6741
12
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Not Applicable 2921-57-5
13
Certolizumab pegol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 428863-50-7
14
Iron Approved Phase 4,Phase 3,Phase 2,Not Applicable 7439-89-6 23925
15
Azathioprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 446-86-6 2265
16
Metronidazole Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 443-48-1 4173
17 tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 94-09-7, 1994-09-7 2337
19 Vedolizumab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 943609-66-3
20
Racepinephrine Approved Phase 4,Phase 2,Not Applicable 329-65-7 838
21
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Not Applicable 51-43-4 5816
22
Azithromycin Approved Phase 4 83905-01-5 55185 447043
23
Methotrexate Approved Phase 4,Phase 3,Phase 2,Not Applicable 59-05-2, 1959-05-2 126941
24
Budesonide Approved Phase 4,Phase 3,Phase 2,Phase 1 51333-22-3 63006 5281004
25
Etidronic acid Approved Phase 4 7414-83-7, 2809-21-4 3305
26
leucovorin Approved Phase 4,Phase 3,Phase 2,Not Applicable 58-05-9 6006 143
27
Natalizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 189261-10-7
28
Phytonadione Approved, Investigational Phase 4,Phase 1 84-80-0 4812 5284607
29
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 22916-47-8 4189
30
Midazolam Approved, Illicit Phase 4,Phase 1 59467-70-8 4192
31
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 73590-58-6 4594
32
Bupivacaine Approved, Investigational Phase 4,Not Applicable 2180-92-9, 38396-39-3 2474
33
Ciprofloxacin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 85721-33-1 2764
34
Ustekinumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 815610-63-0
35
Ondansetron Approved Phase 4,Phase 3 99614-02-5 4595
36
Sirolimus Approved, Investigational Phase 4 53123-88-9 46835353 6436030 5284616
37
Everolimus Approved Phase 4 159351-69-6 6442177
38
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 93-14-1 3516
39
Caffeine Approved Phase 4,Phase 1 58-08-2 2519
40
Dextromethorphan Approved Phase 4,Phase 1 125-71-3 5360696 5362449
41
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
42
Losartan Approved Phase 4 114798-26-4 3961
43
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 50-02-2 5743
44
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 1177-87-3
45
Thioguanine Approved Phase 4 154-42-7 2723601
46
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 564-25-0 54671203
47
Vancomycin Approved Phase 4,Phase 2 1404-90-6 14969 441141
48
Sulfamethazine Approved, Investigational, Vet_approved Phase 4 57-68-1 5327
49
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
50
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662

Interventional clinical trials:

(show top 50) (show all 1259)
# 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 Patients With Crohn's Disease 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 Does Clinical Response Correlate With Serum Certolizumab Levels? Unknown status NCT02597829 Phase 4 Certolizumab Pegol
13 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
14 "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
15 Anemia in Inflammatory Bowel Disease Unknown status NCT02760940 Phase 4 oral liposomal iron
16 Precision Dosing of Infliximab Versus Conventional Dosing of Infliximab Unknown status NCT02453776 Phase 4 PRECISION dosing Infliximab
17 Manipulation of Visceral Sensitivity and Immune System in IBS Unknown status NCT00418340 Phase 4 probiotic (bacterial/dietary supplement)
18 Prucalopride Prior to Small Bowel Capsule Endoscopy Unknown status NCT02806206 Phase 4 Prucalopride;Placebo
19 SECOND GENERATION COLON CAPSULE ENDOSCOPY (CCE-2) IN PEDIATRIC CROHN'S DISEASE (CD). Completed NCT02199626 Phase 4
20 Efficacy Study of Pneumococcal Vaccination in Crohn's Disease Completed NCT01505855 Phase 4 23-valent polysaccharide pneumococcal vaccine
21 Rapidity of Response to Adalimumab Treatment in Patients With Crohn´s Disease Completed NCT02148718 Phase 4
22 Diagnostic Accuracy of Capsule Endoscopy in Small Bowel Crohn's Disease Completed NCT00588653 Phase 4
23 Trial of a Treatment Algorithm for the Management of Crohn's Disease Completed NCT01030809 Phase 4
24 A Study Comparing the Acceptability of Pentasa® Sachets Versus Pentasa® Tablets in Children With Crohn´s Disease Completed NCT00225810 Phase 4 Crohn's Disease
25 Study Investigating Tailored Treatment With Infliximab for Active Crohn's Disease Completed NCT01442025 Phase 4 Infliximab;Infliximab;Infliximab
26 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
27 VSL#3 Versus Placebo in Maintenance of Remission in Crohn's Disease Completed NCT00114465 Phase 4 VSL#3
28 Evaluation of the Applicability of the CDEIS to Data Obtained by the Colonic Capsule Endoscopy in Crohn Disease Completed NCT01183845 Phase 4
29 Infliximab for the Prevention of Recurrent Crohn's Disease After Surgery Completed NCT00688636 Phase 4 infliximab;placebo
30 Azithromycin Based Therapy for Induction of Remission in Active Pediatric Crohn's Disease Completed NCT01596894 Phase 4 Azithromycin + Metronidazole;Metronidazole
31 Top Down Versus Step Up Strategies in Crohn's Disease Completed NCT00554710 Phase 4 infliximab+azathioprine;methylprednisolone or budesonide
32 Adalimumab-psoriasis and Small Bowel Lesions Completed NCT01556672 Phase 4 Adalimumab
33 The Effect of Vitamin D3 to Maintain Surgical Remission in Postoperative Crohn's Disease Completed NCT02010762 Phase 4 Vitamin D;Placebo
34 Vedolizumab IV 300 mg in the Treatment of Fistulizing Crohn's Disease Completed NCT02630966 Phase 4 Vedolizumab;Placebo
35 Risedronate Therapy in the Treatment of Low Bone Mineral Density in Crohn's Disease Completed NCT01215890 Phase 4 risedronate;placebo
36 Vitamin D Supplementation in Adult Crohn's Disease Completed NCT01369667 Phase 4
37 Early Immunosuppressants in Crohn's Disease Completed NCT00546546 Phase 4 early immunosuppressants (azathioprine, methotrexate)
38 Endoscopic Detection of Dysplasia in Crohn 's Disease Patient Completed NCT01180452 Phase 4
39 Open Label Natalizumab Safety Extension Study for Subjects With Crohn's Disease Completed NCT00280956 Phase 4 natalizumab
40 Vitamin D in Pediatric Crohn's Disease Completed NCT01187459 Phase 4
41 The Effect of Vitamin K Supplementation on Bone Health in Adult Crohn's Disease Patients Completed NCT01235325 Phase 4
42 Pneumococcal Vaccination of Crohn Patients Completed NCT01947010 Phase 4
43 Immune Modulation by Parenteral Fish Oil in Patients With Crohn's Disease Completed NCT02349594 Phase 4 Omegaven 10%;Intralipid 20%
44 Vitd and Barrier Function in IBD Completed NCT01792388 Phase 4
45 The NOR-SWITCH Study Completed NCT02148640 Phase 4 Innovator infliximab;Biosimilar infliximab
46 Salvage Therapy With High/Low Methotrexate for Loss of Response to Infliximab Dose Escalation Completed NCT02269358 Phase 4 METHOTREXATE
47 Endoscopic Ultrasound (EUS) Guided Treatment With Humira for Crohn's Perianal Fistulas Completed NCT00517296 Phase 4 adalimumab
48 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
49 Centocor Microarray Study of Patients Completed NCT00462072 Phase 4 Infliximab
50 Treatment of Iron Deficiency Anaemia in Inflammatory Bowel Disease With Ferrous Sulphate Completed NCT01991314 Phase 4 Ferrous sulphate

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

About this section

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, Skin, Small Intestine, Eye, Kidney, Bone, Thyroid
Sources

Publications for Inflammatory Bowel Disease 1

About this section

Articles related to Inflammatory Bowel Disease 1:

# Title Authors Year
1
Drug-induced liver injury in inflammatory bowel disease: 1-year prospective observational study. ( 28652663 )
2017
2
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
3
Inflammatory bowel disease. 1: Aetiology and pathogenesis. ( 10670307 )
1999
4
Inflammatory bowel disease. 1. Origins, presentation, and course. ( 9590987 )
1998
5
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 325)
# 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.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 GRCh37 Chromosome 16, 50744823: 50744823
8 NOD2 NM_022162.2(NOD2): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 GRCh38 Chromosome 16, 50710912: 50710912
9 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh37 Chromosome 16, 50744822: 50744822
10 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh38 Chromosome 16, 50710911: 50710911
11 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh37 Chromosome 16, 50756774: 50756774
12 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh38 Chromosome 16, 50722863: 50722863
13 NOD2 NM_022162.2(NOD2): c.1834G> A (p.Ala612Thr) single nucleotide variant Likely benign rs104895438 GRCh37 Chromosome 16, 50745656: 50745656
14 NOD2 NM_022162.2(NOD2): c.1834G> A (p.Ala612Thr) single nucleotide variant Likely benign rs104895438 GRCh38 Chromosome 16, 50711745: 50711745
15 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh37 Chromosome 16, 50744969: 50744969
16 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh38 Chromosome 16, 50711058: 50711058
17 IL6 IL6, -174G-C single nucleotide variant risk factor
18 NOD2 NM_022162.2(NOD2): c.1087A> T (p.Ile363Phe) single nucleotide variant Uncertain significance rs104895470 GRCh37 Chromosome 16, 50744909: 50744909
19 NOD2 NM_022162.2(NOD2): c.1087A> T (p.Ile363Phe) single nucleotide variant Uncertain significance rs104895470 GRCh38 Chromosome 16, 50710998: 50710998
20 NOD2 NM_022162.2(NOD2): c.1241A> G (p.Asn414Ser) single nucleotide variant Uncertain significance rs104895429 GRCh37 Chromosome 16, 50745063: 50745063
21 NOD2 NM_022162.2(NOD2): c.1241A> G (p.Asn414Ser) single nucleotide variant Uncertain significance rs104895429 GRCh38 Chromosome 16, 50711152: 50711152
22 NOD2 NM_022162.2(NOD2): c.1281G> A (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895430 GRCh37 Chromosome 16, 50745103: 50745103
23 NOD2 NM_022162.2(NOD2): c.1281G> A (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895430 GRCh38 Chromosome 16, 50711192: 50711192
24 NOD2 NM_022162.2(NOD2): c.1292C> T (p.Ser431Leu) single nucleotide variant Likely benign rs104895431 GRCh37 Chromosome 16, 50745114: 50745114
25 NOD2 NM_022162.2(NOD2): c.1292C> T (p.Ser431Leu) single nucleotide variant Likely benign rs104895431 GRCh38 Chromosome 16, 50711203: 50711203
26 NOD2 NM_022162.2(NOD2): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs104895432 GRCh37 Chromosome 16, 50745143: 50745143
27 NOD2 NM_022162.2(NOD2): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs104895432 GRCh38 Chromosome 16, 50711232: 50711232
28 NOD2 NM_022162.2(NOD2): c.1509G> A (p.Glu503=) single nucleotide variant Uncertain significance rs104895434 GRCh37 Chromosome 16, 50745331: 50745331
29 NOD2 NM_022162.2(NOD2): c.1509G> A (p.Glu503=) single nucleotide variant Uncertain significance rs104895434 GRCh38 Chromosome 16, 50711420: 50711420
30 NOD2 NM_022162.2(NOD2): c.1788G> A (p.Thr596=) single nucleotide variant Benign rs104895437 GRCh37 Chromosome 16, 50745610: 50745610
31 NOD2 NM_022162.2(NOD2): c.1788G> A (p.Thr596=) single nucleotide variant Benign rs104895437 GRCh38 Chromosome 16, 50711699: 50711699
32 NOD2 NM_022162.2(NOD2): c.2332G> A (p.Glu778Lys) single nucleotide variant Uncertain significance rs104895443 GRCh37 Chromosome 16, 50746154: 50746154
33 NOD2 NM_022162.2(NOD2): c.2332G> A (p.Glu778Lys) single nucleotide variant Uncertain significance rs104895443 GRCh38 Chromosome 16, 50712243: 50712243
34 NOD2 NM_022162.2(NOD2): c.2372G> A (p.Arg791Gln) single nucleotide variant Benign/Likely benign rs104895464 GRCh37 Chromosome 16, 50746194: 50746194
35 NOD2 NM_022162.2(NOD2): c.2372G> A (p.Arg791Gln) single nucleotide variant Benign/Likely benign rs104895464 GRCh38 Chromosome 16, 50712283: 50712283
36 NOD2 NM_022162.2(NOD2): c.2377G> A (p.Val793Met) single nucleotide variant Likely benign rs104895444 GRCh37 Chromosome 16, 50746199: 50746199
37 NOD2 NM_022162.2(NOD2): c.2377G> A (p.Val793Met) single nucleotide variant Likely benign rs104895444 GRCh38 Chromosome 16, 50712288: 50712288
38 NOD2 NM_022162.2(NOD2): c.2406G> T (p.Val802=) single nucleotide variant Likely benign rs104895495 GRCh37 Chromosome 16, 50746228: 50746228
39 NOD2 NM_022162.2(NOD2): c.2406G> T (p.Val802=) single nucleotide variant Likely benign rs104895495 GRCh38 Chromosome 16, 50712317: 50712317
40 NOD2 NM_022162.2(NOD2): c.2546C> T (p.Ala849Val) single nucleotide variant Likely benign rs104895486 GRCh37 Chromosome 16, 50750581: 50750581
41 NOD2 NM_022162.2(NOD2): c.2546C> T (p.Ala849Val) single nucleotide variant Likely benign rs104895486 GRCh38 Chromosome 16, 50716670: 50716670
42 NOD2 NM_022162.2(NOD2): c.2555A> G (p.Asn852Ser) single nucleotide variant risk factor rs104895467 GRCh37 Chromosome 16, 50750810: 50750810
43 NOD2 NM_022162.2(NOD2): c.2555A> G (p.Asn852Ser) single nucleotide variant risk factor rs104895467 GRCh38 Chromosome 16, 50716899: 50716899
44 NOD2 NM_022162.2(NOD2): c.2587A> G (p.Met863Val) single nucleotide variant Benign/Likely benign rs104895447 GRCh37 Chromosome 16, 50750842: 50750842
45 NOD2 NM_022162.2(NOD2): c.2587A> G (p.Met863Val) single nucleotide variant Benign/Likely benign rs104895447 GRCh38 Chromosome 16, 50716931: 50716931
46 NOD2 NM_022162.2(NOD2): c.2753C> A (p.Ala918Asp) single nucleotide variant Likely benign rs104895452 GRCh37 Chromosome 16, 50756571: 50756571
47 NOD2 NM_022162.2(NOD2): c.2753C> A (p.Ala918Asp) single nucleotide variant Likely benign rs104895452 GRCh38 Chromosome 16, 50722660: 50722660
48 NOD2 NM_022162.2(NOD2): c.2863G> A (p.Val955Ile) single nucleotide variant Benign rs5743291 GRCh37 Chromosome 16, 50757276: 50757276
49 NOD2 NM_022162.2(NOD2): c.2863G> A (p.Val955Ile) single nucleotide variant Benign rs5743291 GRCh38 Chromosome 16, 50723365: 50723365
50 NOD2 NM_022162.2(NOD2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104895456 GRCh37 Chromosome 16, 50733738: 50733738

Copy number variations for Inflammatory Bowel Disease 1 from CNVD:

7 (show all 25)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 19625 1 150839831 150840116 Deletion and duplication LCE3C Crohn''s disease
2 19631 1 150852910 150853198 Deletion and duplication LCE3B Crohn''s disease
3 71426 12 69818942 132349534 Copy number Crohn''s disease
4 112709 17 40930407 78774742 Copy number Crohn''s disease
5 139336 2 179004449 242951149 Copy number Crohn''s disease
6 194979 5 147200000 152100000 Low copy numbers IRGM Crohn''s disease
7 195288 5 149800000 152700000 Copy number Crohn''s disease
8 195354 5 150157836 180857866 Copy number Crohn''s disease
9 195374 5 150183562 180857866 Copy number Crohn''s disease
10 195384 5 150207878 150208422 Deletion IRGM Crohn''s disease
11 195385 5 150207878 150208422 Deletion and duplication IRGM Crohn''s disease
12 210788 6 31416574 170899992 Copy number Crohn''s disease
13 211338 6 32582950 170899992 Copy number Crohn''s disease
14 211384 6 32609209 170899992 Copy number Crohn''s disease
15 211736 6 336751 356443 Copy number IRF4 Crohn''s disease
16 230702 8 1 12700000 Copy number Crohn''s disease
17 241420 8 6200000 12700000 Copy number HBD-2 Crohn''s disease
18 241431 8 6200000 12700000 Duplication DEFB103 Crohn''s disease
19 241433 8 6200000 12700000 Duplication DEFB4 Crohn''s disease
20 241436 8 6200000 12700000 Duplication SPAG11 Crohn''s disease
21 241467 8 6200000 12700000 Low copy numbers Crohn''s disease
22 242030 8 6873390 6875823 Copy number Crohn''s disease
23 242532 8 7259842 7791647 Copy number DEFB4 Crohn''s disease
24 242534 8 7259842 7791647 Deletion and duplica tion DEFB4 Crohn''s disease
25 242535 8 7259842 7791647 Deletion and duplica tion HBD-2 Crohn''s disease
Sources

Expression for Inflammatory Bowel Disease 1

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

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 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.65 IL6 NOD1 NOD2
2 positive regulation of JNK cascade GO:0046330 9.58 NOD1 NOD2
3 protein complex oligomerization GO:0051259 9.57 NOD1 NOD2
4 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.56 NOD1 NOD2
5 positive regulation of tumor necrosis factor production GO:0032760 9.55 NOD1 NOD2
6 JNK cascade GO:0007254 9.54 NOD1 NOD2
7 interleukin-1-mediated signaling pathway GO:0070498 9.52 NOD1 NOD2
8 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.51 NOD1 NOD2
9 positive regulation of stress-activated MAPK cascade GO:0032874 9.49 NOD1 NOD2
10 positive regulation of interleukin-1 beta production GO:0032731 9.46 NOD1 NOD2
11 cellular response to muramyl dipeptide GO:0071225 9.43 NOD1 NOD2
12 positive regulation of interleukin-6 production GO:0032755 9.43 IL6 NOD1 NOD2
13 detection of bacterium GO:0016045 9.4 NOD1 NOD2
14 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.37 NOD1 NOD2
15 carnitine transport GO:0015879 9.32 SLC22A4 SLC22A5
16 quaternary ammonium group transport GO:0015697 9.16 SLC22A4 SLC22A5
17 carnitine transmembrane transport GO:1902603 8.96 SLC22A4 SLC22A5
18 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 9.72 HSPA1L NOD1 NOD2 SLC22A4 SLC22A5
2 PDZ domain binding GO:0030165 9.4 SLC22A4 SLC22A5
3 transporter activity GO:0005215 9.37 SLC22A4 SLC22A5
4 peptidoglycan binding GO:0042834 9.26 NOD1 NOD2
5 CARD domain binding GO:0050700 9.16 NOD1 NOD2
6 quaternary ammonium group transmembrane transporter activity GO:0015651 8.96 SLC22A4 SLC22A5
7 carnitine transmembrane transporter activity GO:0015226 8.62 SLC22A4 SLC22A5
8 protein binding GO:0005515 10.03 HOGA1 HSPA1L IL6 METTL9 NOD1 NOD2
Sources

Sources for Inflammatory Bowel Disease 1

About this section
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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