| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.630 | GeneticVariation | disease | BEFREE | Rare protein-altering variants in TERT, PARN, TERC, and RTEL1 are enriched in patients with IPF compared with controls, and, in the case of TERT, particularly in individuals without a risk allele at the rs35705950 locus. | 29891356 | 2018 | ||||
|
0.630 | Biomarker | disease | BEFREE | Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN, SFTPC, and SFTPA2) and with variants in at least 11 novel loci. | 27630174 | 2016 | ||||
|
0.630 | Biomarker | disease | BEFREE | Heterozygous mutations in four telomere-related genes have been linked to pulmonary fibrosis, but little is known about similarities or differences of affected individuals.115 patients with mutations in telomerase reverse transcriptase (TERT) (n=75), telomerase RNA component (TERC) (n=7), regulator of telomere elongation helicase 1 (RTEL1) (n=14) and poly(A)-specific ribonuclease (PARN) (n=19) were identified and clinical data were analysed.Approximately one-half (46%) had a multidisciplinary diagnosis of idiopathic pulmonary fibrosis (IPF); others had unclassifiable lung fibrosis (20%), chronic hypersensitivity pneumonitis (12%), pleuroparenchymal fibroelastosis (10%), interstitial pneumonia with autoimmune features (7%), an idiopathic interstitial pneumonia (4%) and connective tissue disease-related interstitial fibrosis (3%). | 27540018 | 2016 | ||||
|
0.630 | Biomarker | disease | CTD_human | Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. | 25848748 | 2015 | ||||
|
0.630 | SusceptibilityMutation | disease | ORPHANET | Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. | 25848748 | 2015 | ||||
|
0.630 | CausalMutation | disease | CLINVAR | Rare variants in RTEL1 are associated with familial interstitial pneumonia. | 25607374 | 2015 | ||||
|
0.630 | GeneticVariation | disease | CLINVAR |