IBD29
MCID: INF170
MIFTS: 17

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 58 76 6
Ibd29 58 76

Classifications:



External Ids:

OMIM 58 618077
MeSH 45 D015212
MedGen 43 CN252686

Summaries for Inflammatory Bowel Disease 29

UniProtKB/Swiss-Prot : 76 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 skin, colon and eye.

OMIM : 58 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

Anatomical Context for Inflammatory Bowel Disease 29

MalaCards organs/tissues related to Inflammatory Bowel Disease 29:

42
Skin, Colon, Eye, Bone

Publications for Inflammatory Bowel Disease 29

Articles related to Inflammatory Bowel Disease 29:

# Title Authors Year
1
C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions. ( 29420262 )
2018
2
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. ( 21983784 )
2011

Variations for Inflammatory Bowel Disease 29

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

76
# Symbol AA change Variation ID SNP ID
1 INAVA p.Tyr333Phe VAR_080249 rs41313912

ClinVar genetic disease variations for Inflammatory Bowel Disease 29:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INAVA INAVA, TYR333PHE (rs41313912) undetermined variant Pathogenic

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
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
Content
Loading form....