GBD4
MCID: GLL027
MIFTS: 26

Gallbladder Disease 4 (GBD4)

Categories: Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Gallbladder Disease 4

MalaCards integrated aliases for Gallbladder Disease 4:

Name: Gallbladder Disease 4 57 72 29 13 6 70
Gbd4 57 72
Gallbladder Disease, Type 4 39

Characteristics:

HPO:

31
gallbladder disease 4:
Inheritance polygenic inheritance


Classifications:



External Ids:

OMIM® 57 611465
OMIM Phenotypic Series 57 PS600803
MeSH 44 D005705
MedGen 41 C1969115
SNOMED-CT via HPO 68 266474003
UMLS 70 C1969115

Summaries for Gallbladder Disease 4

UniProtKB/Swiss-Prot : 72 Gallbladder disease 4: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes.

MalaCards based summary : Gallbladder Disease 4, also known as gbd4, is related to gallbladder disease and sitosterolemia 2. An important gene associated with Gallbladder Disease 4 is ABCG8 (ATP Binding Cassette Subfamily G Member 8), and among its related pathways/superpathways are Lipoprotein metabolism and Angiopoietin Like Protein 8 Regulatory Pathway. Related phenotype is cholelithiasis.

More information from OMIM: 611465 PS600803

Related Diseases for Gallbladder Disease 4

Graphical network of the top 20 diseases related to Gallbladder Disease 4:



Diseases related to Gallbladder Disease 4

Symptoms & Phenotypes for Gallbladder Disease 4

Human phenotypes related to Gallbladder Disease 4:

31
# Description HPO Frequency HPO Source Accession
1 cholelithiasis 31 HP:0001081

Clinical features from OMIM®:

611465 (Updated 05-Apr-2021)

Drugs & Therapeutics for Gallbladder Disease 4

Search Clinical Trials , NIH Clinical Center for Gallbladder Disease 4

Genetic Tests for Gallbladder Disease 4

Genetic tests related to Gallbladder Disease 4:

# Genetic test Affiliating Genes
1 Gallbladder Disease 4 29 ABCG8

Anatomical Context for Gallbladder Disease 4

Publications for Gallbladder Disease 4

Articles related to Gallbladder Disease 4:

# Title Authors PMID Year
1
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 6 57
17632509 2007

Variations for Gallbladder Disease 4

ClinVar genetic disease variations for Gallbladder Disease 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCG5 , ABCG8 NM_022437.3(ABCG8):c.55G>C (p.Asp19His) SNV Pathogenic 4975 rs11887534 GRCh37: 2:44066247-44066247
GRCh38: 2:43839108-43839108
2 ABCG8 NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) SNV Uncertain significance 500519 rs150654176 GRCh37: 2:44099394-44099394
GRCh38: 2:43872255-43872255
3 ABCG8 NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) SNV Uncertain significance 198901 rs144200355 GRCh37: 2:44099435-44099435
GRCh38: 2:43872296-43872296

Expression for Gallbladder Disease 4

Search GEO for disease gene expression data for Gallbladder Disease 4.

Pathways for Gallbladder Disease 4

GO Terms for Gallbladder Disease 4

Cellular components related to Gallbladder Disease 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.16 ABCG8 ABCG5
2 receptor complex GO:0043235 8.96 ABCG8 ABCG5
3 ATP-binding cassette (ABC) transporter complex GO:0043190 8.62 ABCG8 ABCG5

Biological processes related to Gallbladder Disease 4 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.56 ABCG8 ABCG5
2 response to drug GO:0042493 9.55 ABCG8 ABCG5
3 lipid transport GO:0006869 9.54 ABCG8 ABCG5
4 cholesterol homeostasis GO:0042632 9.52 ABCG8 ABCG5
5 response to nutrient GO:0007584 9.51 ABCG8 ABCG5
6 response to nutrient levels GO:0031667 9.49 ABCG8 ABCG5
7 intermembrane lipid transfer GO:0120009 9.48 ABCG8 ABCG5
8 triglyceride homeostasis GO:0070328 9.46 ABCG8 ABCG5
9 excretion GO:0007588 9.43 ABCG8 ABCG5
10 cholesterol efflux GO:0033344 9.4 ABCG8 ABCG5
11 response to muscle activity GO:0014850 9.37 ABCG8 ABCG5
12 sterol transport GO:0015918 9.32 ABCG8 ABCG5
13 bile acid signaling pathway GO:0038183 9.26 ABCG8 ABCG5
14 intestinal cholesterol absorption GO:0030299 9.16 ABCG8 ABCG5
15 negative regulation of intestinal cholesterol absorption GO:0045796 8.96 ABCG8 ABCG5
16 negative regulation of intestinal phytosterol absorption GO:0010949 8.62 ABCG8 ABCG5

Molecular functions related to Gallbladder Disease 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.26 ABCG8 ABCG5
2 ATPase activity GO:0016887 9.16 ABCG8 ABCG5
3 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.96 ABCG8 ABCG5
4 intermembrane cholesterol transfer activity GO:0120020 8.62 ABCG8 ABCG5

Sources for Gallbladder Disease 4

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
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