MCID: CFT001
MIFTS: 17

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 21 22

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. Affiliated tissues include breast, kidney and liver.

GeneReviews summary for NBK1250

Related Diseases for Cftr-Related Disorders

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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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MalaCards organs/tissues related to Cftr-Related Disorders:

33
Breast, Kidney, Liver, Myeloid, Lung

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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GO Terms for genes affiliated with Cftr-Related Disorders

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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