MCID: LWG002
MIFTS: 15

Low Gamma-Gt Familial Intrahepatic Cholestasis malady

Category: Genetic diseases (common)

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 22 24
Low Gamma-Glutamyltranspeptidase Familial Intrahepatic Cholestasis 22
 
Cholestasis, Progressive Familial Intrahepatic 3 65

Classifications:



External Ids:

UMLS65 C1865643

Summaries for Low Gamma-Gt Familial Intrahepatic Cholestasis

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MalaCards based summary: Low Gamma-Gt Familial Intrahepatic Cholestasis, also known as low gamma-glutamyltranspeptidase familial intrahepatic cholestasis, is related to cholestasis, benign recurrent intrahepatic and costello syndrome. An important gene associated with Low Gamma-Gt Familial Intrahepatic Cholestasis is ATP8B1 (ATPase Phospholipid Transporting 8B1). Affiliated tissues include breast, and 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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Drugs for Low Gamma-Gt Familial Intrahepatic Cholestasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Bile Acids and Salts86
2Gastrointestinal Agents6401
3LecithinNutraceutical63

Interventional clinical trials:

idNameStatusNCT IDPhase
1Intralumenal Effects on Cholesterol Absorption/SynthesisCompletedNCT00328211

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 Cholestasis22 ATP8B1

Anatomical Context for Low Gamma-Gt Familial Intrahepatic Cholestasis

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MalaCards organs/tissues related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

33
Breast

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5ABCB11, ATP8B1

Publications for Low Gamma-Gt Familial Intrahepatic Cholestasis

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Articles related to Low Gamma-Gt Familial Intrahepatic Cholestasis:

idTitleAuthorsYear
1
Stimulation of proliferation of MCF-7 breast cancer cells by a transfected splice variant of growth hormone-releasing hormone receptor. (17372203)
2007

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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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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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
1membraneGO:00160209.1ABCB11, ATP8B1
2integral component of plasma membraneGO:00058878.8ABCB11, ATP8B1

Sources for Low Gamma-Gt Familial Intrahepatic Cholestasis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet