IBD5
MCID: INF088
MIFTS: 28

Inflammatory Bowel Disease 5 (IBD5)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Inflammatory Bowel Disease 5

MalaCards integrated aliases for Inflammatory Bowel Disease 5:

Name: Inflammatory Bowel Disease 5 58 12 13 6 15 74
Ibd5 58 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110889
OMIM 58 606348
UMLS 74 C1853438

Summaries for Inflammatory Bowel Disease 5

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31.

MalaCards based summary : Inflammatory Bowel Disease 5, also known as ibd5, is related to ulcerative colitis and colitis. An important gene associated with Inflammatory Bowel Disease 5 is IBD5 (Inflammatory Bowel Disease 5). Affiliated tissues include bone, and related phenotype is digestive/alimentary.

Description from OMIM: 606348

Related Diseases for Inflammatory Bowel Disease 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 ulcerative colitis 29.5 ATG16L1 IL23R NOD2
2 colitis 29.5 ATG16L1 IL23R NOD2
3 crohn's disease 29.2 ATG16L1 DLG5 IL23R NOD2 SLC22A4 SLC22A5
4 inflammatory bowel disease 29.1 ATG16L1 IL23R NOD2
5 cone-rod dystrophy and hearing loss 2 11.1
6 crohn's colitis 10.2
7 inflammatory bowel disease 6 10.0
8 irritable bowel syndrome 10.0
9 inflammatory bowel disease 2 10.0 DLG5 NOD2
10 ileocolitis 9.9 DLG5 NOD2
11 inflammatory bowel disease 1 9.8 NOD2 SLC22A4 SLC22A5
12 spondylitis 9.8 IL23R NOD2
13 psoriatic arthritis 9.7 IL23R NOD2
14 intestinal disease 9.5 ATG16L1 IL23R NOD2

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 5:



Diseases related to Inflammatory Bowel Disease 5

Symptoms & Phenotypes for Inflammatory Bowel Disease 5

Clinical features from OMIM:

606348

MGI Mouse Phenotypes related to Inflammatory Bowel Disease 5:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 ATG16L1 IL23R NOD2 SLC22A4

Drugs & Therapeutics for Inflammatory Bowel Disease 5

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 5

Genetic Tests for Inflammatory Bowel Disease 5

Anatomical Context for Inflammatory Bowel Disease 5

MalaCards organs/tissues related to Inflammatory Bowel Disease 5:

42
Bone

Publications for Inflammatory Bowel Disease 5

Articles related to Inflammatory Bowel Disease 5:

(show all 33)
# Title Authors Year
1
Crohn's disease and genetic hitchhiking at IBD5. ( 21816865 )
2012
2
Association between inflammatory bowel disease gene 5 (IBD5) and interleukin-23 receptor (IL23R) genetic polymorphisms in Malaysian patients with Crohn's disease. ( 22908971 )
2012
3
Contribution of the IBD5 locus to inflammatory bowel disease: a meta-analysis. ( 21279723 )
2011
4
Interaction between CTLA4 gene and IBD5 locus in Hungarian Crohn's disease patients. ( 21519805 )
2011
5
Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population. ( 21674708 )
2011
6
Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene. ( 21695374 )
2011
7
IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn's disease in Hungarian patients. ( 19214536 )
2009
8
Polymorphisms in the IBD5 locus are associated with Crohn disease in pediatric Ashkenazi Jewish patients. ( 19412005 )
2009
9
Diverse effects of the CARD15 and IBD5 loci on clinical phenotype in 630 patients with Crohn's disease. ( 18090989 )
2008
10
Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohn's disease risk in a population-based case-control study: evidence of gene-gene interactions. ( 18521914 )
2008
11
IBD5 is associated with an extensive complicated Crohn's disease feature: implications from genotype-phenotype analysis. ( 17172589 )
2007
12
Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease. ( 17213842 )
2007
13
Contribution of the IBD5 locus to Crohn's disease in the Swedish population. ( 17340776 )
2007
14
A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5. ( 17484864 )
2007
15
Evidence for association of OCTN genes and IBD5 with ulcerative colitis. ( 16361305 )
2006
16
Lack of association between IBD5 and Crohn's disease in Japanese patients demonstrates population-specific differences in inflammatory bowel disease. ( 16373276 )
2006
17
Contribution of IBD5 locus to clinical features of IBD patients. ( 16454837 )
2006
18
Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel disease. ( 16469794 )
2006
19
Role of the IBD5 susceptibility locus in the inflammatory bowel diseases. ( 16534425 )
2006
20
Contribution of OCTN variants within the IBD5 locus to pediatric onset Crohn's disease. ( 16771961 )
2006
21
OCTNs: will the real IBD5 gene please stand up? ( 16773684 )
2006
22
Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population. ( 16333318 )
2006
23
Course of disease, drug treatment and health-related quality of life in patients with inflammatory bowel disease 5 years after initial diagnosis. ( 16148548 )
2005
24
IBD5 polymorphisms in inflammatory bowel disease: association with response to infliximab. ( 15754402 )
2005
25
The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. ( 16344054 )
2005
26
Haplotype variation at the IBD5/SLC22A4 locus (5q31) in coeliac disease in the Irish population. ( 15245375 )
2004
27
Functional variants of OCTN cation transporter genes are associated with Crohn disease. ( 15107849 )
2004
28
A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5). ( 12535646 )
2003
29
Analysis of the IBD5 locus and potential gene-gene interactions in Crohn's disease. ( 12631666 )
2003
30
IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis. ( 12776251 )
2003
31
The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants. ( 12928481 )
2003
32
Further evidence of IBD5/CARD15 (NOD2) epistasis in the susceptibility to ulcerative colitis. ( 14655097 )
2003
33
IBD5: the second Crohn's disease gene? ( 12479655 )
2002

Variations for Inflammatory Bowel Disease 5

ClinVar genetic disease variations for Inflammatory Bowel Disease 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC22A5 SLC22A5, -207G-C single nucleotide variant Uncertain significance

Expression for Inflammatory Bowel Disease 5

Search GEO for disease gene expression data for Inflammatory Bowel Disease 5.

Pathways for Inflammatory Bowel Disease 5

GO Terms for Inflammatory Bowel Disease 5

Biological processes related to Inflammatory Bowel Disease 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.54 ICOSLG IL23R NOD2
2 positive regulation of activated T cell proliferation GO:0042104 9.32 ICOSLG IL23R
3 positive regulation of interleukin-17 production GO:0032740 9.26 IL23R NOD2
4 carnitine transport GO:0015879 9.16 SLC22A4 SLC22A5
5 quaternary ammonium group transport GO:0015697 8.96 SLC22A4 SLC22A5
6 carnitine transmembrane transport GO:1902603 8.62 SLC22A4 SLC22A5

Molecular functions related to Inflammatory Bowel Disease 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.32 SLC22A4 SLC22A5
2 PDZ domain binding GO:0030165 9.26 SLC22A4 SLC22A5
3 transporter activity GO:0005215 9.16 SLC22A4 SLC22A5
4 quaternary ammonium group transmembrane transporter activity GO:0015651 8.96 SLC22A4 SLC22A5
5 carnitine transmembrane transporter activity GO:0015226 8.62 SLC22A4 SLC22A5

Sources for Inflammatory Bowel Disease 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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