MCID: CFT001
MIFTS: 14

Cftr-Related Disorders malady

Category: Genetic diseases (common)

Aliases & Classifications for Cftr-Related Disorders

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Aliases & Descriptions for Cftr-Related Disorders:

Name: Cftr-Related Disorders 22 23

Classifications:



Summaries for Cftr-Related Disorders

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MalaCards based summary: Cftr-Related Disorders is related to asthma and cystic fibrosis. An important gene associated with Cftr-Related Disorders is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Cytokine production by Th17 cells in CF.

GeneReviews summary for NBK1250

Related Diseases for Cftr-Related Disorders

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Diseases related to Cftr-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1asthma29.1CFTR, TGFB1
2cystic fibrosis10.2
3allergic asthma9.9
4bronchiectasis9.9
5chd2-related neurodevelopmental disorders9.6CFTR, TGFB1
6congenital fibrosis of the extraocular muscles 1a9.6CFTR, TGFB1
7laryngeal tuberculosis9.5CFTR, TGFB1
8fundus dystrophy9.4CFTR, TGFB1
9congenital bilateral absence of vas deferens9.2CFTR, TGFB1

Graphical network of diseases related to Cftr-Related Disorders:



Diseases related to cftr-related disorders

Symptoms for Cftr-Related Disorders

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Drugs & Therapeutics for Cftr-Related Disorders

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cftr-Related Disorders

Genetic Tests for Cftr-Related Disorders

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Genetic tests related to Cftr-Related Disorders:

id Genetic test Affiliating Genes
1 Cftr-Related Disorders23 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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Articles related to Cftr-Related Disorders:

(show all 14)
idTitleAuthorsYear
1
Clinical Approach to the Diagnosis and Treatment of Cystic Fibrosis and CFTR-related Disorders. (27653767)
2016
2
Non-allergic asthma as a CFTR-related disorder. (26526220)
2015
3
Should diffuse bronchiectasis still be considered a CFTR-related disorder? (25797027)
2015
4
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders? (24451227)
2014
5
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. (23378603)
2013
6
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. (23687349)
2013
7
Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders. (23470247)
2013
8
Extensive molecular analysis of patients bearing CFTR-related disorders. (22020151)
2012
9
Recommendations for the classification of diseases as CFTR-related disorders. (21658649)
2011
10
UMD-CFTR: a database dedicated to CF and CFTR-related disorders. (20607857)
2010
11
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. (18685558)
2009
12
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders. (19810821)
2009
13
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. (19092437)
2008
14
CFTR-Related Disorders (20301428)
1993

Variations for Cftr-Related Disorders

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Expression for genes affiliated with Cftr-Related Disorders

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

Pathways for genes affiliated with Cftr-Related Disorders

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GO Terms for genes affiliated with Cftr-Related Disorders

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Cellular components related to Cftr-Related Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00099869.1CFTR, TGFB1

Molecular functions related to Cftr-Related Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:00198999.1CFTR, TGFB1

Sources for Cftr-Related Disorders

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet