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 24

Classifications:



Summaries for Cftr-Related Disorders

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MalaCards based summary: Cftr-Related Disorders is related to cystic fibrosis and chitotriosidase deficiency. An important gene associated with Cftr-Related Disorders is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways are Deubiquitination and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers.

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
1cystic fibrosis10.1
2chitotriosidase deficiency9.9CFTR, TGFB1
3coq7-related coenzyme q10 deficiency9.8CFTR, TGFB1
4hyperlysinemia9.8CFTR, TGFB1
5acute chest syndrome9.8CFTR, TGFB1
6asthma9.8
7allergic asthma9.8
8bronchiectasis9.8
9subcorneal pustular dermatosis9.7CFTR, TGFB1

Graphical network of diseases related to Cftr-Related Disorders:



Diseases related to cftr-related disorders

Symptoms & Phenotypes 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 Disorders24 CFTR

Anatomical Context for Cftr-Related Disorders

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Publications for Cftr-Related Disorders

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Articles related to Cftr-Related Disorders:

(show all 13)
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
UMD-CFTR: a database dedicated to CF and CFTR-related disorders. (20607857)
2010
10
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders. (19810821)
2009
11
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. (18685558)
2009
12
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. (19092437)
2008
13
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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Pathways related to Cftr-Related Disorders according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1CFTR, TGFB1
29.1CFTR, TGFB1
3
Show member pathways
9.1CFTR, TGFB1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet