MCID: LWG002
MIFTS: 25

Low Gamma-Gt Familial Intrahepatic Cholestasis malady

Genetic diseases (common) category

Aliases & Classifications for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Aliases & Descriptions for Low Gamma-Gt Familial Intrahepatic Cholestasis:

Name: Low Gamma-Gt Familial Intrahepatic Cholestasis 20
 
Cholestasis, Progressive Familial Intrahepatic 3 61


Classifications:



Summaries for Low Gamma-Gt Familial Intrahepatic Cholestasis

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MalaCards based summary: Low Gamma-Gt Familial Intrahepatic Cholestasis, also known as cholestasis, progressive familial intrahepatic 3, is related to cholestasis, benign recurrent intrahepatic and intrahepatic cholestasis. An important gene associated with Low Gamma-Gt Familial Intrahepatic Cholestasis is ABCB4 (ATP-binding cassette, sub-family B (MDR/TAP), member 4), and among its related pathways are Hepatic ABC Transporters and Bile secretion. The compounds glycocholate and rhodamine 123 have been mentioned in the context of this disorder. Related mouse phenotype liver/biliary system.

Related Diseases for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Graphical network of diseases related to Low Gamma-Gt Familial Intrahepatic Cholestasis:



Diseases related to low gamma-gt familial intrahepatic cholestasis

Symptoms for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Drugs & Therapeutics for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Drug clinical trials:

Search ClinicalTrials for Low Gamma-Gt Familial Intrahepatic Cholestasis

Search NIH Clinical Center for Low Gamma-Gt Familial Intrahepatic Cholestasis

Genetic Tests for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Genetic tests related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

id Genetic test Affiliating Genes
1 Low Gamma-Gt Familial Intrahepatic Cholestasis20 ATP8B1

Anatomical Context for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Animal Models for Low Gamma-Gt Familial Intrahepatic Cholestasis or affiliated genes

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MGI Mouse Phenotypes related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5ATP8B1, ABCB11, ABCB4

Publications for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Articles related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

idTitleAuthorsYear
1
Low Gamma-GT Familial Intrahepatic Cholestasis (20301474)
1993

Variations for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Clinvar genetic disease variations for Low Gamma-Gt Familial Intrahepatic Cholestasis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ABCB4NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)single nucleotide variantPathogenicrs121918440GRCh37Chr 7, 87041264: 87041264

Expression for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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Search GEO for disease gene expression data for Low Gamma-Gt Familial Intrahepatic Cholestasis.

Pathways for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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Pathways related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3ABCB11, ABCB4
29.3ABCB11, ABCB4
3
Show member pathways
9.3ABCB11, ABCB4
49.3ABCB11, ABCB4

Compounds for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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Sources:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

(show top 50)    (show all 1087)
idCompoundScoreTop Affiliating Genes
1glycocholate449.8ABCB4, ABCB11
2rhodamine 12344 5010.8ABCB4, ABCB11
3ursodeoxycholic acid44 24 1111.8ABCB11, ABCB4
4chenodeoxycholic acid44 28 24 1112.8ABCB11, ABCB4
5PC(P-18:1(11Z)/20:3(8Z,11Z,14Z))249.5ATP8B1, ABCB4
6PC(P-18:1(11Z)/20:4(5Z,8Z,11Z,14Z))249.5ATP8B1, ABCB4
7PC(P-18:1(11Z)/20:5(5Z,8Z,11Z,14Z,17Z))249.5ATP8B1, ABCB4
8PC(P-18:1(11Z)/22:0)249.5ATP8B1, ABCB4
9PC(P-18:1(11Z)/22:1(13Z))249.5ATP8B1, ABCB4
10PC(P-18:1(11Z)/20:3(5Z,8Z,11Z))249.5ABCB4, ATP8B1
11PC(P-18:1(11Z)/16:1(9Z))249.5ABCB4, ATP8B1
12PC(P-18:1(11Z)/14:0)249.4ATP8B1, ABCB4
13PC(P-18:1(11Z)/14:1(9Z))249.4ATP8B1, ABCB4
14PC(P-18:1(11Z)/15:0)249.4ATP8B1, ABCB4
15PC(P-18:1(11Z)/16:0)249.4ATP8B1, ABCB4
16PC(P-18:1(9Z)/16:0)249.4ATP8B1, ABCB4
17PC(P-18:1(9Z)/20:5(5Z,8Z,11Z,14Z,17Z))249.4ATP8B1, ABCB4
18PC(P-18:1(9Z)/22:0)249.4ATP8B1, ABCB4
19PC(P-18:1(9Z)/22:1(13Z))249.4ATP8B1, ABCB4
20PC(P-18:1(9Z)/22:2(13Z,16Z))249.4ATP8B1, ABCB4
21PC(P-18:1(9Z)/22:4(7Z,10Z,13Z,16Z))249.4ATP8B1, ABCB4
22PC(P-18:1(9Z)/18:2(9Z,12Z))249.4ABCB4, ATP8B1
23PC(P-18:1(9Z)/16:1(9Z))249.4ATP8B1, ABCB4
24PC(P-18:1(9Z)/18:0)249.4ATP8B1, ABCB4
25PC(P-18:1(9Z)/18:1(11Z))249.4ATP8B1, ABCB4
26PC(P-18:1(9Z)/18:1(9Z))249.4ATP8B1, ABCB4
27PC(20:3(8Z,11Z,14Z)/20:1(11Z))249.4ATP8B1, ABCB4
28PC(P-16:0/20:0)249.4ATP8B1, ABCB4
29PC(P-16:0/20:1(11Z))249.4ATP8B1, ABCB4
30PC(P-16:0/20:2(11Z,14Z))249.4ATP8B1, ABCB4
31PC(P-16:0/22:5(7Z,10Z,13Z,16Z,19Z))249.4ATP8B1, ABCB4
32PC(P-16:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))249.3ATP8B1, ABCB4
33PC(P-16:0/18:4(6Z,9Z,12Z,15Z))249.3ABCB4, ATP8B1
34PC(22:1(13Z)/18:1(11Z))249.3ATP8B1, ABCB4
35PC(dm18:1(11Z)/20:4(8Z,11Z,14Z,17Z))249.3ATP8B1, ABCB4
36PC(P-16:0/18:3(6Z,9Z,12Z))249.3ATP8B1, ABCB4
37PC(P-16:0/18:3(9Z,12Z,15Z))249.3ATP8B1, ABCB4
38PC(P-16:0/24:0)249.3ATP8B1, ABCB4
39PC(P-18:0/20:2(11Z,14Z))249.3ATP8B1, ABCB4
40PC(P-18:0/20:3(5Z,8Z,11Z))249.2ATP8B1, ABCB4
41PC(P-18:0/20:3(8Z,11Z,14Z))249.2ATP8B1, ABCB4
42PC(P-18:0/20:4(5Z,8Z,11Z,14Z))249.2ATP8B1, ABCB4
43PC(P-18:0/24:1(15Z))249.1ATP8B1, ABCB4
44PC(P-18:0/20:1(11Z))249.1ABCB4, ATP8B1
45PC(P-16:0/24:1(15Z))249.0ATP8B1, ABCB4
46PC(P-18:0/20:0)249.0ATP8B1, ABCB4
47taurocholate449.0ABCB4, ATP8B1, ABCB11
48cholesterol44 28 24 1112.0ATP8B1, ABCB11, ABCB4
49PC(P-18:0/14:0)248.9ATP8B1, ABCB4
50PC(P-18:0/14:1(9Z))248.7ATP8B1, ABCB4

GO Terms for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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Cellular components related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:00465819.2ABCB11, ABCB4
2integral component of plasma membraneGO:00058878.5ATP8B1, ABCB11, ABCB4
3apical plasma membraneGO:00163248.2ATP8B1, ABCB11, ABCB4

Biological processes related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:00157219.0ATP8B1, ABCB11
2bile acid metabolic processGO:00082068.8ATP8B1, ABCB11
3transmembrane transportGO:00550858.5ATP8B1, ABCB11, ABCB4

Molecular functions related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:00426269.0ABCB11, ABCB4
2ATP bindingGO:00055248.5ATP8B1, ABCB11, ABCB4

Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet