MCID: CFT001
MIFTS: 21

Cftr-Related Disorders malady

Summaries for Cftr-Related Disorders

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19GeneReviews, 32MalaCards
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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

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19GeneReviews, 20GeneTests
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Aliases & Descriptions:

cftr-related disorders 19 20


Related Diseases for Cftr-Related Disorders

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

Graphical network of diseases related to Cftr-Related Disorders:



Diseases related to cftr-related disorders

Clinical Features for Cftr-Related Disorders

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Drugs & Therapeutics for Cftr-Related Disorders

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Sources:
5CenterWatch, 41NIH 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

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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

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Animal Models for Cftr-Related Disorders or affiliated genes

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Publications for Cftr-Related Disorders

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Sources:
50PubMed
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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

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Expression for genes affiliated with Cftr-Related Disorders

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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

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53Reactome, 29KEGG
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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

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Cftr-Related Disorders according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1daunorubicin44 49 1111.4TGFB1, ABCC10
2docetaxel44 49 59 1112.4TGFB1, ABCC10
3amiloride44 28 1111.3CFTR, TGFB1
4cytochalasin d44 5910.3CFTR, TGFB1
5citrate449.3TGFB1, CFTR
6formaldehyde44 2410.3CFTR, TGFB1
7methotrexate44 49 1111.2TGFB1, ABCC10
8curcumin449.2TGFB1, CFTR
9dmso449.2TGFB1, CFTR
10etoposide44 49 59 1112.2ABCC10, TGFB1
11aspirin44 49 28 2412.2CFTR, TGFB1
12paclitaxel44 49 1111.1TGFB1, ABCC10
13indomethacin44 59 28 1112.0TGFB1, CFTR
14butyrate448.9TGFB1, CFTR
15sildenafil44 49 28 11 2412.8TGFB1, CFTR, ABCC10
16verapamil44 49 28 11 2412.8ABCC10, CFTR, TGFB1
17doxorubicin44 49 1110.8TGFB1, CFTR, ABCC10
18vitamin d448.7TGFB1, CFTR

GO Terms for genes affiliated with Cftr-Related Disorders

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cftr-Related Disorders

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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