MCID: INF093
MIFTS: 19

Inflammatory Bowel Disease 14

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

Aliases & Classifications for Inflammatory Bowel Disease 14

MalaCards integrated aliases for Inflammatory Bowel Disease 14:

Name: Inflammatory Bowel Disease 14 57 12 75 29 13 73
Ibd14 57 12 75
Inflammatory Bowel Disease 14, Susceptibility to 6
Bowel Disease, Inflammatory, Type 14 40

Classifications:



External Ids:

OMIM 57 612245
Disease Ontology 12 DOID:0110895
MedGen 42 C2677100
MeSH 44 D015212
UMLS 73 C2677100

Summaries for Inflammatory Bowel Disease 14

UniProtKB/Swiss-Prot : 75 Inflammatory bowel disease 14: 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 14, is also known as ibd14. An important gene associated with Inflammatory Bowel Disease 14 is IRF5 (Interferon Regulatory Factor 5), and among its related pathways/superpathways is Toll-like Receptor Signaling Pathway. Affiliated tissues include skin, colon and eye, and related phenotype is Decreased Salmonella proliferation.

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the IRF5 gene on chromosome 7q32.

Description from OMIM: 612245

Symptoms & Phenotypes for Inflammatory Bowel Disease 14

Clinical features from OMIM:

612245

GenomeRNAi Phenotypes related to Inflammatory Bowel Disease 14 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella proliferation GR00364-A 8.62 IRF5 TGFBR1

Drugs & Therapeutics for Inflammatory Bowel Disease 14

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 14

Genetic Tests for Inflammatory Bowel Disease 14

Genetic tests related to Inflammatory Bowel Disease 14:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 14 29 IRF5

Anatomical Context for Inflammatory Bowel Disease 14

MalaCards organs/tissues related to Inflammatory Bowel Disease 14:

41
Skin, Colon, Eye

Publications for Inflammatory Bowel Disease 14

Variations for Inflammatory Bowel Disease 14

ClinVar genetic disease variations for Inflammatory Bowel Disease 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF5 IRF5, 5-BP INS, PROMOTER REGION insertion risk factor

Expression for Inflammatory Bowel Disease 14

Search GEO for disease gene expression data for Inflammatory Bowel Disease 14.

Pathways for Inflammatory Bowel Disease 14

Pathways related to Inflammatory Bowel Disease 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.48 IRF5 TGFBR1

GO Terms for Inflammatory Bowel Disease 14

Biological processes related to Inflammatory Bowel Disease 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 8.62 IRF5 TGFBR1

Sources for Inflammatory Bowel Disease 14

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
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