PBC5
MCID: BLR026
MIFTS: 14

Biliary Cirrhosis, Primary, 5 (PBC5)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Rare diseases

Aliases & Classifications for Biliary Cirrhosis, Primary, 5

MalaCards integrated aliases for Biliary Cirrhosis, Primary, 5:

Name: Biliary Cirrhosis, Primary, 5 56 13 71
Pbc5 56

Classifications:



External Ids:

OMIM 56 614221
OMIM Phenotypic Series 56 PS109720
UMLS 71 C3280202

Summaries for Biliary Cirrhosis, Primary, 5

OMIM : 56 Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996). For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720). (614221)

MalaCards based summary : Biliary Cirrhosis, Primary, 5, also known as pbc5, is related to primary biliary cirrhosis. An important gene associated with Biliary Cirrhosis, Primary, 5 is PBC5 (Biliary Cirrhosis, Primary, 5). Affiliated tissues include liver.

Related Diseases for Biliary Cirrhosis, Primary, 5

Diseases in the Primary Biliary Cirrhosis family:

Biliary Cirrhosis, Primary, 1 Biliary Cirrhosis, Primary, 2
Biliary Cirrhosis, Primary, 3 Biliary Cirrhosis, Primary, 4
Biliary Cirrhosis, Primary, 5

Diseases related to Biliary Cirrhosis, Primary, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary biliary cirrhosis 11.3

Symptoms & Phenotypes for Biliary Cirrhosis, Primary, 5

Clinical features from OMIM:

614221

Drugs & Therapeutics for Biliary Cirrhosis, Primary, 5

Search Clinical Trials , NIH Clinical Center for Biliary Cirrhosis, Primary, 5

Genetic Tests for Biliary Cirrhosis, Primary, 5

Anatomical Context for Biliary Cirrhosis, Primary, 5

MalaCards organs/tissues related to Biliary Cirrhosis, Primary, 5:

40
Liver

Publications for Biliary Cirrhosis, Primary, 5

Articles related to Biliary Cirrhosis, Primary, 5:

# Title Authors PMID Year
1
Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. 56
20639879 2010
2
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 56
20639880 2010
3
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 56
19458352 2009
4
Primary biliary cirrhosis. 56
8900092 1996
5
Structural Basis for Cell-Wall Recognition by Bacteriophage PBC5 Endolysin. 61
31353242 2019
6
Overexpression of Monacolin K Biosynthesis Genes in the Monascus purpureus Azaphilone Polyketide Pathway. 61
30734557 2019

Variations for Biliary Cirrhosis, Primary, 5

Expression for Biliary Cirrhosis, Primary, 5

Search GEO for disease gene expression data for Biliary Cirrhosis, Primary, 5.

Pathways for Biliary Cirrhosis, Primary, 5

GO Terms for Biliary Cirrhosis, Primary, 5

Sources for Biliary Cirrhosis, Primary, 5

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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