CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018834
Disease: Heartburn
Heartburn 		0.010 Biomarker phenotype BEFREE Treatments primarily directed to correct CFTR function and/or airway acidity are clearly a priority. 31734731 2020
CUI: C0028754
Disease: Obesity
Obesity 		0.010 GeneticVariation disease BEFREE In the entire cohort, overweight/obese were likely to be older (OR = 1.04, p < 0.0001) and to have a mild CFTR genotype (OR = 3.33, p = 0.0003) and modestly elevated triglyceride levels (OR = 1.008, p < 0.0001). 31727452 2020
CUI: C0878787
Disease: Growth failure
Growth failure 		0.010 Biomarker phenotype BEFREE In addition, chronic inflammation characteristic of CF may contribute to growth failure via alteration in the GH-insulin-like growth factor 1 signaling and other changes in the growth plate. rhGH and new CFTR modulators may improve some growth parameters. 31815786 2020
CUI: C0002871
Disease: Anemia
Anemia 		0.010 Biomarker disease BEFREE Understanding how cystic fibrosis transmembrane conductance regulator (CFTR) modulators influence comorbid conditions like anemia is of great interest to the cystic fibrosis community. 30580531 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE CFTR activation significantly reduced GBM cell proliferation. 30573361 2019
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.010 GeneticVariation disease BEFREE Here, we report the cases of three CF-negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. 31328366 2019
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.010 Biomarker phenotype BEFREE The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease. 31403270 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE CFTR activation suppresses glioblastoma cell proliferation, migration and invasion. 30573361 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE CFTR activation suppresses glioblastoma cell proliferation, migration and invasion. 30573361 2019
CUI: C0302142
Disease: Deformity
Deformity 		0.010 GeneticVariation group BEFREE Our findings may broaden the mutation spectrum of CFTR in CAVD patients and provide more familial evidence that the combination of a mild variant and a severe variant in trans of CFTR can cause vas deferens malformation. 31709488 2019
CUI: C0332909
Disease: Congenital unilateral absence
Congenital unilateral absence 		0.010 GeneticVariation disease BEFREE CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies. 30214069 2019
CUI: C0342488
Disease: Mineralocorticoid Excess Syndrome, Apparent
Mineralocorticoid Excess Syndrome, Apparent 		0.010 GeneticVariation disease BEFREE 4/17 individuals (approximately 25% of cases) were found to suffer in fact from pseudo-Bartter syndrome resulting from congenital chloride diarrhea due to a novel homozygous mutation in the SLC26A3 gene, Pendred syndrome due to a known homozygous mutation in SLC26A4, Cystic Fibrosis (CF) due to a novel mutation in CFTR and apparent mineralocorticoid excess syndrome due to a novel homozygous loss of function mutation in HSD11B2 gene.1 case (5%) remained unsolved. 30760291 2019
CUI: C0853277
Disease: Pseudo-Bartter syndrome
Pseudo-Bartter syndrome 		0.010 Biomarker disease BEFREE Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy? 31328366 2019
CUI: C1608955
Disease: Mycobacterium abscessus Infection
Mycobacterium abscessus Infection 		0.010 Biomarker disease BEFREE CFTR Protects against Mycobacterium abscessus Infection by Fine-Tuning Host Oxidative Defenses. 30759393 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE CFTR activation significantly reduced GBM cell proliferation. 30573361 2019
CUI: C1720830
Disease: Painful Bladder Syndrome
Painful Bladder Syndrome 		0.010 GeneticVariation disease BEFREE Here, we report the cases of three CF-negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. 31328366 2019
CUI: C1840264
Disease: IMMUNE SUPPRESSION
IMMUNE SUPPRESSION 		0.010 Biomarker phenotype BEFREE The ideal therapeutic cell would: (1) be autologous to avoid the complications of rejection and immune-suppression; (2) be safely modified to express functional CFTR; (3) be expandable <i>ex vivo</i> to generate sufficient cell quantities to restore CFTR function; and (4) have the capacity to engraft, proliferate and persist long-term in recipient airways without complications. 30800069 2019
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		0.010 Biomarker disease BEFREE These findings demonstrate the potential of CFTR inhibitor CFTR-inh172 in human T-cell acute lymphoblastic leukemia treatment. 31541940 2019
CUI: C4524087
Disease: Bile acid diarrhea
Bile acid diarrhea 		0.010 Biomarker disease BEFREE These results implicate CFTR activation in the colon as a major prosecretory mechanism of CDCA, a bile acid implicated in BAD, and support the potential therapeutic efficacy of CFTR inhibition in bile acid-associated diarrheas.-Duan, T., Cil, O., Tse, C. M., Sarker, R., Lin, R., Donowitz, M., Verkman, A. S. Inhibition of CFTR-mediated intestinal chloride secretion as potential therapy for bile acid diarrhea. 31268738 2019
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.010 Biomarker disease BEFREE Transepithelial chloride<sup>-</sup> secretion, through the chloride channels cystic fibrosis transmembrane conductance regulator (CFTR) and TMEM16A (anoctamin 1), drives cyst enlargement in polycystic kidney disease (PKD). 30606785 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 Biomarker group BEFREE Disturbances of cystic fibrosis transmembrane conductance regulator (CFTR) as well as autoimmunity are involved in the pathogenesis of CFRDM. 29247329 2018
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.010 Biomarker disease BEFREE CFTR prevents neuronal apoptosis following cerebral ischemia reperfusion via regulating mitochondrial oxidative stress. 29761302 2018
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 Biomarker group BEFREE We conclude that CFTR inhibits the growth and migration of esophageal cancer cells by downregulating of the NF-κB protein expression. 30358020 2018
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		0.010 GeneticVariation disease BEFREE CF results from loss-of-function mutations in CF transmembrane conductance regulator (CFTR), a channel that conducts chloride across epithelial cell membranes, while WD is due to a deficiency of ATPase copper transporting beta (ATP7B), a plasma membrane protein that pumps out copper from cells. 30568028 2018
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.010 Biomarker group BEFREE Cigarette smoke promotes HIV infection of primary bronchial epithelium and additively suppresses CFTR function. 29789655 2018