IBD28
MCID: INF161
MIFTS: 11

Inflammatory Bowel Disease 28 (IBD28)

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

Aliases & Classifications for Inflammatory Bowel Disease 28

MalaCards integrated aliases for Inflammatory Bowel Disease 28:

Name: Inflammatory Bowel Disease 28 12 6
Early Onset Autosomal Recessive Inflammatory Bowel Disease 28 12
Inflammatory Bowel Disease 28, Autosomal Recessive 74
Ibd28 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110899
UMLS 74 C2751053

Summaries for Inflammatory Bowel Disease 28

Disease Ontology : 12 An inflammatory bowel disease characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23.

MalaCards based summary : Inflammatory Bowel Disease 28, also known as early onset autosomal recessive inflammatory bowel disease 28, is related to inflammatory bowel disease 28, autosomal recessive. An important gene associated with Inflammatory Bowel Disease 28 is IL10RA (Interleukin 10 Receptor Subunit Alpha).

Related Diseases for Inflammatory Bowel Disease 28

Symptoms & Phenotypes for Inflammatory Bowel Disease 28

Drugs & Therapeutics for Inflammatory Bowel Disease 28

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 28

Genetic Tests for Inflammatory Bowel Disease 28

Anatomical Context for Inflammatory Bowel Disease 28

Publications for Inflammatory Bowel Disease 28

Variations for Inflammatory Bowel Disease 28

ClinVar genetic disease variations for Inflammatory Bowel Disease 28:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IL10RA NM_001558.3(IL10RA): c.421G> A (p.Gly141Arg) single nucleotide variant Pathogenic rs137853579 GRCh37 Chromosome 11, 117864009: 117864009
2 IL10RA NM_001558.3(IL10RA): c.421G> A (p.Gly141Arg) single nucleotide variant Pathogenic rs137853579 GRCh38 Chromosome 11, 117993294: 117993294
3 IL10RA NM_001558.3(IL10RA): c.251C> T (p.Thr84Ile) single nucleotide variant Pathogenic rs137853580 GRCh37 Chromosome 11, 117860219: 117860219
4 IL10RA NM_001558.3(IL10RA): c.251C> T (p.Thr84Ile) single nucleotide variant Pathogenic rs137853580 GRCh38 Chromosome 11, 117989504: 117989504
5 IL10RA NM_001558.3(IL10RA): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs149491038 GRCh37 Chromosome 11, 117866399: 117866399
6 IL10RA NM_001558.3(IL10RA): c.784C> T (p.Arg262Cys) single nucleotide variant Pathogenic rs149491038 GRCh38 Chromosome 11, 117995684: 117995684
7 IL10RA NM_001558.3(IL10RA): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs368287711 GRCh37 Chromosome 11, 117860269: 117860269
8 IL10RA NM_001558.3(IL10RA): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs368287711 GRCh38 Chromosome 11, 117989554: 117989554

Expression for Inflammatory Bowel Disease 28

Search GEO for disease gene expression data for Inflammatory Bowel Disease 28.

Pathways for Inflammatory Bowel Disease 28

GO Terms for Inflammatory Bowel Disease 28

Sources for Inflammatory Bowel Disease 28

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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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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