MCID: LWG002
MIFTS: 17

Low Gamma-Gt Familial Intrahepatic Cholestasis malady

Genetic diseases category

Summaries for Low Gamma-Gt Familial Intrahepatic Cholestasis

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MalaCards: Low Gamma-Gt Familial Intrahepatic Cholestasis, also known as progressive intrahepatic cholestasis, is related to benign recurrent intrahepatic cholestasis and intrahepatic cholestasis. An important gene associated with Low Gamma-Gt Familial Intrahepatic Cholestasis is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1). The compounds Adenosine triphosphate and taurocholate have been mentioned in the context of this disorder. Related mouse phenotype liver/biliary system.

Aliases & Classifications for Low Gamma-Gt Familial Intrahepatic Cholestasis

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20GeneTests, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

low gamma-gt familial intrahepatic cholestasis 20
progressive intrahepatic cholestasis 60


Related Diseases for Low Gamma-Gt Familial Intrahepatic Cholestasis

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17GeneCards, 18GeneDecks
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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

Clinical Features for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Drugs & Therapeutics for Low Gamma-Gt Familial Intrahepatic Cholestasis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

Search CenterWatch for Low Gamma-Gt Familial Intrahepatic Cholestasis

Genetic Tests for Low Gamma-Gt Familial Intrahepatic Cholestasis

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20GeneTests
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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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36MGI
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MGI Mouse Phenotypes related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1ABCB11, ATP8B1

Publications for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Genetic Variations for Low Gamma-Gt Familial Intrahepatic Cholestasis

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Low Gamma-Gt Familial Intrahepatic Cholestasis

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

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11DrugBank, 24HMDB, 44Novoseek, 28IUPHAR
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Compounds related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Adenosine triphosphate11 2410.1ABCB11, ATP8B1
2taurocholate449.0ABCB11, ATP8B1
3cholesterol44 28 11 2411.8ABCB11, ATP8B1

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

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16Gene Ontology
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Cellular components related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:0058879.1ABCB11, ATP8B1
2apical plasma membraneGO:0163248.8ABCB11, ATP8B1

Biological processes related to Low Gamma-Gt Familial Intrahepatic Cholestasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:0550859.1ABCB11, ATP8B1
2bile acid and bile salt transportGO:0157219.0ABCB11, ATP8B1
3bile acid metabolic processGO:0082068.8ABCB11, ATP8B1

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

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Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet