IBD27
MCID: INF085
MIFTS: 30

Inflammatory Bowel Disease 27 (IBD27)

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

Aliases & Classifications for Inflammatory Bowel Disease 27

MalaCards integrated aliases for Inflammatory Bowel Disease 27:

Name: Inflammatory Bowel Disease 27 57 12 13 15 70
Ibd27 57 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110902
OMIM® 57 612796
OMIM Phenotypic Series 57 PS266600
UMLS 70 C2748550

Summaries for Inflammatory Bowel Disease 27

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3.

MalaCards based summary : Inflammatory Bowel Disease 27, also known as ibd27, is related to inflammatory bowel disease and thrombocytopenia. An important gene associated with Inflammatory Bowel Disease 27 is IBD27 (Inflammatory Bowel Disease-27), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Adipogenesis. Affiliated tissues include bone marrow, and related phenotypes are homeostasis/metabolism and normal

More information from OMIM: 612796 PS266600

Related Diseases for Inflammatory Bowel Disease 27

Diseases in the Inflammatory Bowel Disease family:

Inflammatory Bowel Disease 11 Inflammatory Bowel Disease 1
Inflammatory Bowel Disease 2 Inflammatory Bowel Disease 3
Inflammatory Bowel Disease 7 Inflammatory Bowel Disease 5
Inflammatory Bowel Disease 8 Inflammatory Bowel Disease 6
Inflammatory Bowel Disease 4 Inflammatory Bowel Disease 9
Inflammatory Bowel Disease 10 Inflammatory Bowel Disease 12
Inflammatory Bowel Disease 13 Inflammatory Bowel Disease 14
Inflammatory Bowel Disease 15 Inflammatory Bowel Disease 16
Inflammatory Bowel Disease 17 Inflammatory Bowel Disease 18
Inflammatory Bowel Disease 19 Inflammatory Bowel Disease 20
Inflammatory Bowel Disease 21 Inflammatory Bowel Disease 22
Inflammatory Bowel Disease 23 Inflammatory Bowel Disease 24
Inflammatory Bowel Disease 25, Autosomal Recessive Inflammatory Bowel Disease 26
Inflammatory Bowel Disease 27 Inflammatory Bowel Disease 28, Autosomal Recessive
Inflammatory Bowel Disease 29 Inflammatory Bowel Disease 30
Inflammatory Bowel Disease 28 Inflammatory Bowel Disease 25
Alpi-Related Inflammatory Bowel Disease Trim22-Related Inflammatory Bowel Disease
Rare Inflammatory Bowel Disease

Diseases related to Inflammatory Bowel Disease 27 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 inflammatory bowel disease 29.3 TFF3 IBD27 HIF1A EPO CLDN2
2 thrombocytopenia 29.1 HIF1A GATA2 GATA1 EPO
3 lumbosacral lipoma 10.0 HIF1A EPO
4 esophagus carcinoma in situ 10.0 HIF1A EPO
5 asphyxia neonatorum 10.0 HIF1A EPO
6 primary polycythemia 10.0 HIF1A EPO
7 undetermined colitis 10.0
8 erythrocytosis, familial, 2 10.0 HIF1A EPO
9 immunodeficiency 21 10.0 GATA2 GATA1
10 acute erythroid leukemia 10.0 GATA1 EPO
11 thalassemia minor 10.0 GATA1 EPO
12 myeloproliferative syndrome, transient 9.9 GATA2 GATA1
13 diabetic macular edema 9.9 HIF1A EPO
14 anemia, congenital dyserythropoietic, type ia 9.9 GATA1 EPO
15 familial isolated hypoparathyroidism 9.9 HIF1A EPO
16 congenital dyserythropoietic anemia 9.7 GATA1 EPO
17 bone marrow cancer 9.7 GATA2 GATA1 EPO
18 beta-thalassemia 9.7 GATA2 GATA1 EPO
19 acute leukemia 9.7 GATA2 GATA1 EPO
20 myelofibrosis 9.7 GATA2 GATA1 EPO
21 leukemia, chronic myeloid 9.3 GATA2 GATA1 EPO CREB1
22 peripheral nervous system disease 9.2 HIF1A EPO CREB1
23 leukemia, acute myeloid 9.1 HIF1A GATA2 GATA1 EPO CREB1

Graphical network of the top 20 diseases related to Inflammatory Bowel Disease 27:



Diseases related to Inflammatory Bowel Disease 27

Symptoms & Phenotypes for Inflammatory Bowel Disease 27

Clinical features from OMIM®:

612796 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Inflammatory Bowel Disease 27:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 CLDN2 CREB1 EPO GATA1 GATA2 HIF1A
2 normal MP:0002873 9.63 CREB1 EPO GATA1 GATA2 HIF1A MYOD1
3 respiratory system MP:0005388 9.35 CREB1 EPO GATA1 HIF1A MYOD1
4 skeleton MP:0005390 9.1 CREB1 EPO GATA1 HIF1A MYOD1 MZF1

Drugs & Therapeutics for Inflammatory Bowel Disease 27

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 27

Genetic Tests for Inflammatory Bowel Disease 27

Anatomical Context for Inflammatory Bowel Disease 27

MalaCards organs/tissues related to Inflammatory Bowel Disease 27:

40
Bone Marrow

Publications for Inflammatory Bowel Disease 27

Articles related to Inflammatory Bowel Disease 27:

# Title Authors PMID Year
1
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. 57
19915573 2009
2
An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29. 57
18246054 2008
3
Infliximab-induced autoantibodies: a multicenter study. 61
26676808 2016
4
The effect of inflammation severity and of treatment on the production and release of TNFalpha by colonic explants in inflammatory bowel disease. 61
11069314 2000
5
Bone marrow toxicity caused by azathioprine in inflammatory bowel disease: 27 years of experience. 61
8174958 1993
6
Serum CK-BB as a tumor marker in patients with carcinoma confirmed histologically. 61
2476265 1989

Variations for Inflammatory Bowel Disease 27

Expression for Inflammatory Bowel Disease 27

Search GEO for disease gene expression data for Inflammatory Bowel Disease 27.

Pathways for Inflammatory Bowel Disease 27

GO Terms for Inflammatory Bowel Disease 27

Cellular components related to Inflammatory Bowel Disease 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.43 MZF1 MYOD1 HIF1A GATA2 GATA1 CREB1
2 euchromatin GO:0000791 9.16 MYOD1 CREB1
3 transcription factor complex GO:0005667 9.02 MYOD1 HIF1A GATA2 GATA1 CREB1

Biological processes related to Inflammatory Bowel Disease 27 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.91 MYOD1 HIF1A GATA2 GATA1 EPO CREB1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.9 MZF1 GATA2 GATA1 EPO
3 regulation of transcription, DNA-templated GO:0006355 9.88 MZF1 MYOD1 HIF1A GATA2 GATA1 CREB1
4 negative regulation of gene expression GO:0010629 9.77 HIF1A GATA2 CREB1
5 positive regulation of transcription, DNA-templated GO:0045893 9.77 MYOD1 HIF1A GATA1 EPO CREB1
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 MZF1 MYOD1 HIF1A GATA2 GATA1 CREB1
7 response to hypoxia GO:0001666 9.69 HIF1A EPO CREB1
8 positive regulation of blood vessel endothelial cell migration GO:0043536 9.58 HIF1A GATA2
9 erythrocyte differentiation GO:0030218 9.58 GATA1 EPO
10 lactation GO:0007595 9.57 HIF1A CREB1
11 visual learning GO:0008542 9.56 HIF1A CREB1
12 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.55 HIF1A GATA2
13 pituitary gland development GO:0021983 9.54 GATA2 CREB1
14 homeostasis of number of cells within a tissue GO:0048873 9.52 GATA2 GATA1
15 embryonic placenta development GO:0001892 9.49 HIF1A GATA2
16 embryonic hemopoiesis GO:0035162 9.48 HIF1A GATA1
17 negative regulation of bone mineralization GO:0030502 9.46 HIF1A GATA1
18 hemoglobin biosynthetic process GO:0042541 9.32 HIF1A EPO
19 eosinophil fate commitment GO:0035854 9.16 GATA2 GATA1
20 regulation of primitive erythrocyte differentiation GO:0010725 8.96 GATA2 GATA1
21 positive regulation of erythrocyte differentiation GO:0045648 8.8 HIF1A GATA2 GATA1

Molecular functions related to Inflammatory Bowel Disease 27 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.99 MZF1 MYOD1 HIF1A GATA2 GATA1 CREB1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 MZF1 MYOD1 HIF1A GATA2 GATA1 CREB1
3 sequence-specific double-stranded DNA binding GO:1990837 9.76 MYOD1 GATA2 GATA1 CREB1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 MZF1 MYOD1 HIF1A GATA2 GATA1 CREB1
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.71 MYOD1 HIF1A GATA1 CREB1
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.7 MZF1 GATA1 CREB1
7 transcription factor binding GO:0008134 9.67 MYOD1 HIF1A GATA2 CREB1
8 RNA polymerase II activating transcription factor binding GO:0001102 9.55 MYOD1 CREB1
9 sequence-specific DNA binding GO:0043565 9.55 MYOD1 HIF1A GATA2 GATA1 CREB1
10 E-box binding GO:0070888 9.54 MYOD1 HIF1A
11 histone acetyltransferase binding GO:0035035 9.49 HIF1A CREB1
12 nuclear hormone receptor binding GO:0035257 9.48 MYOD1 HIF1A
13 C2H2 zinc finger domain binding GO:0070742 9.43 GATA2 GATA1
14 DNA-binding transcription factor activity GO:0003700 9.43 MZF1 MYOD1 HIF1A GATA2 GATA1 CREB1
15 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.1 MZF1 MYOD1 HIF1A GATA2 GATA1 CREB1

Sources for Inflammatory Bowel Disease 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....