MCID: CFT001
MIFTS: 14

Cftr-Related Disorders malady

Categories: Genetic diseases

Aliases & Classifications for Cftr-Related Disorders

Aliases & Descriptions for Cftr-Related Disorders:

Name: Cftr-Related Disorders 24

Classifications:



Summaries for Cftr-Related Disorders

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/superpathways are Deubiquitination and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers.

Related Diseases for Cftr-Related Disorders

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

id Related Disease Score Top Affiliating Genes
1 cystic fibrosis 10.1
2 chitotriosidase deficiency 9.9 CFTR TGFB1
3 coq7-related coenzyme q10 deficiency 9.8 CFTR TGFB1
4 hyperlysinemia 9.8 CFTR TGFB1
5 acute chest syndrome 9.8 CFTR TGFB1
6 asthma 9.8
7 allergic asthma 9.8
8 bronchiectasis 9.8
9 subcorneal pustular dermatosis 9.7 CFTR TGFB1

Graphical network of the top 20 diseases related to Cftr-Related Disorders:



Diseases related to Cftr-Related Disorders

Symptoms & Phenotypes for Cftr-Related Disorders

Drugs & Therapeutics for Cftr-Related Disorders

Search Clinical Trials , NIH Clinical Center for Cftr-Related Disorders

Genetic Tests for Cftr-Related Disorders

Genetic tests related to Cftr-Related Disorders:

id Genetic test Affiliating Genes
1 Cftr-Related Disorders 24 CFTR

Anatomical Context for Cftr-Related Disorders

Publications for Cftr-Related Disorders

Articles related to Cftr-Related Disorders:

(show all 13)
id Title Authors Year
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

Expression for Cftr-Related Disorders

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

Pathways for Cftr-Related Disorders

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.88 CFTR TGFB1
2 11.08 CFTR TGFB1
3
Show member pathways
10.59 CFTR TGFB1

GO Terms for Cftr-Related Disorders

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.62 CFTR TGFB1

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

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 CFTR TGFB1

Sources for Cftr-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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