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CFTR and spinal muscular atrophy are reported together in 2 articles.
Gene
CFTR
- HGNC
- HGNC:1884
54articles
54mentions
10variants with confirmed gene link (top 10)
Most co-reported phenotypes (articles)
cystic fibrosis 50infertility 4Duchenne muscular dystrophy 2primary ciliary dyskinesia 2spinal muscular atrophy 2Crohn disease 1breast cancer 1dyslipidemia 1
Reported variants (articles · ClinVar status)
Phenotype
Spinal muscular atrophy
45articles
45mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.
PMID 29890394 | DOI 10.1016/j.bios.2018.05.048 · Biosensors & bioelectronics · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CFTR | “Here, we report the development of a disposable carbon nanofiber (CNF)-based electrochemical immunosensor for simultaneous detection of survival motor neuron 1 (SMN1), cystic fibrosis transmembrane conductance regulator (CFTR) and DMD proteins.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Spinal Muscular Atrophy (SMA), Cystic Fibrosis (CF) and Duchenne Muscular Dystrophy (DMD) are well known progressive hereditary disorders associated with increased morbidity as well as mortality.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SMN1 | “Here, we report the development of a disposable carbon nanofiber (CNF)-based electrochemical immunosensor for simultaneous detection of survival motor neuron 1 (SMN1), cystic fibrosis transmembrane conductance regulator (CFTR) and DMD proteins.” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.” | 0.98 | phenotype_alias_lexicon_v2 |
Electrochemical immunosensors for the detection of survival motor neuron (SMN) protein using different carbon nanomaterials-modified electrodes.
PMID 29096367 | DOI 10.1016/j.bios.2017.10.015 · Biosensors & bioelectronics · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CFTR | “The voltammetric SMN carbon nanofiber-based immunosensor showed high sensitivity (detection limit of 0.75pg/ml) and selectivity against other proteins such as cystic fibrosis transmembrane conductance regulator (CFTR) and dystrophin (DMD).” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Spinal muscular atrophy is an untreatable potentially fatal hereditary disorder caused by loss-of-function mutations in the survival motor neuron (SMN) 1 gene which encodes the SMN protein.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SMN1 | “Currently, definitive diagnosis relies on the demonstration of biallelic pathogenic variants in SMN1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | cystic fibrosis | “The voltammetric SMN carbon nanofiber-based immunosensor showed high sensitivity (detection limit of 0.75pg/ml) and selectivity against other proteins such as cystic fibrosis transmembrane conductance regulator (CFTR) and dystrophin (DMD).” | 0.98 | phenotype_alias_lexicon_v2 |