MCID: CFT001
MIFTS: 14

Cftr-Related Disorders malady

Genetic diseases (common) category

Aliases & Classifications for Cftr-Related Disorders

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Aliases & Descriptions for Cftr-Related Disorders:

Name: Cftr-Related Disorders 21 22


Classifications:



Summaries for Cftr-Related Disorders

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MalaCards based summary: Cftr-Related Disorders is related to cystic fibrosis and asthma. 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 is Cytokine production by Th17 cells in CF.

GeneReviews summary for cf

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 fibrosis30.1CFTR, TGFB1
2asthma29.9CFTR, TGFB1
3allergic asthma10.1
4chchd10-related disorders9.9CFTR, TGFB1
5congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency9.8CFTR, TGFB1
6occlusion precerebral artery9.8CFTR, TGFB1
7littre gland carcinoma9.8CFTR, 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 Disorders22 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 12)
idTitleAuthorsYear
1
Non-allergic asthma as a CFTR-related disorder. (26526220)
2015
2
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders? (24451227)
2014
3
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. (23687349)
2013
4
Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders. (23470247)
2013
5
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. (23378603)
2013
6
Extensive molecular analysis of patients bearing CFTR-related disorders. (22020151)
2012
7
Recommendations for the classification of diseases as CFTR-related disorders. (21658649)
2011
8
UMD-CFTR: a database dedicated to CF and CFTR-related disorders. (20607857)
2010
9
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. (18685558)
2009
10
The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders. (19810821)
2009
11
Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. (19092437)
2008
12
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 pathways (with members indented)ScoreTop Affiliating Genes
1
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
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