MCID: CFT001
MIFTS: 17

Cftr-Related Disorders malady

Summaries for Cftr-Related Disorders

Sources:
19GeneReviews, 33MalaCards
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MalaCards: Cftr-Related Disorders is related to cystic fibrosis and hemochromatosis. An important gene associated with Cftr-Related Disorders is CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)), and among its related pathways are ABC-family proteins mediated transport and Cytokine production by Th17 cells in CF (Mouse model). The compounds daunorubicin and docetaxel have been mentioned in the context of this disorder.

GeneReviews summary for cf

Aliases & Classifications for Cftr-Related Disorders

Sources:
19GeneReviews, 20GeneTests
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Aliases & Descriptions:

cftr-related disorders 19 20


Related Diseases for Cftr-Related Disorders

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Cftr-Related Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis10.4
2hemochromatosis10.0CFTR
3acute pancreatitis10.0CFTR
4polycystic kidney disease10.0CFTR
5liver cirrhosis10.0TGFB1
6sinusitis10.0CFTR
7pancreatitis, chronic10.0CFTR, TGFB1
8pulmonary disease, chronic obstructive10.0TGFB1, CFTR
9osteoporosis10.0TGFB1, CFTR
10cork-handlers' disease10.0CFTR, TGFB1
11proteinuria10.0CFTR, TGFB1
12hypertrophy of breast10.0CFTR, TGFB1
13primary hyperoxaluria10.0CFTR, TGFB1

Graphical network of diseases related to Cftr-Related Disorders:



Diseases related to cftr-related disorders

Clinical Features for Cftr-Related Disorders

Drugs & Therapeutics for Cftr-Related Disorders

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cftr-Related Disorders

Drug clinical trials:

Search ClinicalTrials for Cftr-Related Disorders

Search NIH Clinical Center for Cftr-Related Disorders

Search CenterWatch for Cftr-Related Disorders

Genetic Tests for Cftr-Related Disorders

Sources:
20GeneTests
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Genetic tests related to Cftr-Related Disorders:

id Genetic test Affiliating Genes
1 Cftr-related Disorders20 CFTR

Anatomical Context for Cftr-Related Disorders

Animal Models for Cftr-Related Disorders or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cftr-Related Disorders

Sources:
51PubMed
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Articles related to Cftr-Related Disorders:

idTitleAuthorsYear
1
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. (23687349)
2013
2
Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders. (23470247)
2013
3
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. (23378603)
2013
4
Extensive molecular analysis of patients bearing CFTR-related disorders. (22020151)
2012
5
Recommendations for the classification of diseases as CFTR-related disorders. (21658649)
2011
6
UMD-CFTR: a database dedicated to CF and CFTR-related disorders. (20607857)
2010
7
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. (18685558)
2009
8
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders. (19810821)
2009
9
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. (19092437)
2008
10
CFTR-Related Disorders (20301428)
1993

Genetic Variations for Cftr-Related Disorders

Expression for genes affiliated with Cftr-Related Disorders

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cftr-Related Disorders

Search GEO for disease gene expression data for Cftr-Related Disorders.

Pathways for genes affiliated with Cftr-Related Disorders

Sources:
54Reactome, 30KEGG
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Pathways related to Cftr-Related Disorders according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3CFTR, ABCC10
2
Cytokine production by Th17 cells in CF (Mouse model)
9.0TGFB1, CFTR

Compounds for genes affiliated with Cftr-Related Disorders

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Cftr-Related Disorders according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1daunorubicin45 50 1111.4TGFB1, ABCC10
2docetaxel45 50 60 1112.4TGFB1, ABCC10
3amiloride45 29 1111.3CFTR, TGFB1
4cytochalasin d45 6010.3CFTR, TGFB1
5citrate459.3TGFB1, CFTR
6formaldehyde45 2410.3CFTR, TGFB1
7methotrexate45 50 1111.2TGFB1, ABCC10
8curcumin459.2TGFB1, CFTR
9dmso459.2TGFB1, CFTR
10etoposide45 50 60 1112.2ABCC10, TGFB1
11aspirin45 50 29 2412.2CFTR, TGFB1
12paclitaxel45 50 1111.1TGFB1, ABCC10
13indomethacin45 60 29 1112.0TGFB1, CFTR
14butyrate458.9TGFB1, CFTR
15sildenafil45 50 29 11 2412.8TGFB1, CFTR, ABCC10
16verapamil45 50 29 11 2412.8ABCC10, CFTR, TGFB1
17doxorubicin45 50 1110.8TGFB1, CFTR, ABCC10
18vitamin d458.7TGFB1, CFTR

GO Terms for genes affiliated with Cftr-Related Disorders

Sources:
16Gene Ontology
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Cellular components related to Cftr-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microvillusGO:0059029.0TGFB1, CFTR

Biological processes related to Cftr-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:0424939.0TGFB1, CFTR

Molecular functions related to Cftr-Related Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:0198999.0TGFB1, CFTR

Products for genes affiliated with Cftr-Related Disorders

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cftr-Related Disorders

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet