IBD29
MCID: INF170
MIFTS: 18

Inflammatory Bowel Disease 29 (IBD29)

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

Aliases & Classifications for Inflammatory Bowel Disease 29

MalaCards integrated aliases for Inflammatory Bowel Disease 29:

Name: Inflammatory Bowel Disease 29 56 73 29 6
Ibd29 56 73

Classifications:



External Ids:

OMIM 56 618077
OMIM Phenotypic Series 56 PS266600
MeSH 43 D015212
MedGen 41 CN252686

Summaries for Inflammatory Bowel Disease 29

UniProtKB/Swiss-Prot : 73 Inflammatory bowel disease 29: 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 29, is also known as ibd29. An important gene associated with Inflammatory Bowel Disease 29 is INAVA (Innate Immunity Activator). Affiliated tissues include eye, colon and skin.

OMIM : 56 Inflammatory bowel disease is a chronic inflammatory condition of the gastrointestinal tract (summary by Mohanan et al., 2018). For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600). (618077)

Symptoms & Phenotypes for Inflammatory Bowel Disease 29

Clinical features from OMIM:

618077

Drugs & Therapeutics for Inflammatory Bowel Disease 29

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 29

Genetic Tests for Inflammatory Bowel Disease 29

Genetic tests related to Inflammatory Bowel Disease 29:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 29 29 INAVA

Anatomical Context for Inflammatory Bowel Disease 29

MalaCards organs/tissues related to Inflammatory Bowel Disease 29:

40
Eye, Colon, Skin, Bone

Publications for Inflammatory Bowel Disease 29

Articles related to Inflammatory Bowel Disease 29:

# Title Authors PMID Year
1
C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions. 56 6
29420262 2018
2
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 56 6
21983784 2011
3
An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes. 56
28436939 2017
4
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 56
23128233 2012
5
Reactive lymphoid hyperplasia of the terminal ileum: a benign (lymphoma-like) condition that may harbor aberrant immunohistochemical patterns or clonal immunoglobulin heavy chain gene rearrangements. 61
24897069 2014
6
Gastroenterology training in Australia: how much is enough? 61
22372490 2013
7
Subcutaneous rectal stump closure after emergency subtotal colectomy. 61
1643491 1992

Variations for Inflammatory Bowel Disease 29

ClinVar genetic disease variations for Inflammatory Bowel Disease 29:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INAVA INAVA, TYR333PHE (rs41313912)undetermined variant Pathogenic 559449

UniProtKB/Swiss-Prot genetic disease variations for Inflammatory Bowel Disease 29:

73
# Symbol AA change Variation ID SNP ID
1 INAVA p.Tyr333Phe VAR_080249 rs41313912

Expression for Inflammatory Bowel Disease 29

Search GEO for disease gene expression data for Inflammatory Bowel Disease 29.

Pathways for Inflammatory Bowel Disease 29

GO Terms for Inflammatory Bowel Disease 29

Sources for Inflammatory Bowel Disease 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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