IBD29
MCID: INF170
MIFTS: 12

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 57 6
Ibd29 57

Classifications:



External Ids:

OMIM 57 618077

Summaries for Inflammatory Bowel Disease 29

OMIM : 57 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)

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 bone.

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:

41
Bone

Publications for Inflammatory Bowel Disease 29

Variations for Inflammatory Bowel Disease 29

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
2 Pathogenic NC_000001.9: g.60109298_62267615del2158318 deletion 0 rsRCV000677153 Chromosome 1, 60109298:62267615 559456
3 Pathogenic NC_000010.9: g.87983839_89527417del1543579 deletion 0 rsRCV000677156 Chromosome 10, 87983839:89527417 559459
4 Pathogenic NC_000010.9: g.87983839_89527417del1543579 deletion 0 rsRCV000677156 Chromosome 10, 87983839:89527417 559459
5 Pathogenic NC_000013.9: g.31818484_31977333del158850 deletion 0 rsRCV000677171 Chromosome 13, 31818484:31977333 559474
6 Pathogenic NC_000001.9: g.157610062_160185096del2575035 deletion 0 rsRCV000677173;RCV000677173;RCV000677173;RCV000677173 Chromosome 1, 157610062:160185096 559476
7 Pathogenic NC_000001.9: g.157610062_160185096del2575035 deletion 0 rsRCV000677173;RCV000677173;RCV000677173;RCV000677173 Chromosome 1, 157610062:160185096 559476
8 Pathogenic NC_000001.9: g.157610062_160185096del2575035 deletion 0 rsRCV000677173;RCV000677173;RCV000677173;RCV000677173 Chromosome 1, 157610062:160185096 559476
9 Pathogenic NC_000001.9: g.157610062_160185096del2575035 deletion 0 rsRCV000677173;RCV000677173;RCV000677173;RCV000677173 Chromosome 1, 157610062:160185096 559476

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 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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