PARN, poly(A)-specific ribonuclease, 5073

N. diseases: 144; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE Tau, Pin1 and PARN target the expression of mRNAs deregulated in AD and/or cancer. 31749682 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 Biomarker disease BEFREE Grem1, SOST, and USAG1 have been demonstrated to be upregulated and play a critical role in the progression of diabetic nephropathy (DN); however, the expression and the role of other DAN family members in DN have not been reported yet. 30831151 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 AlteredExpression group BEFREE Tau induces PARN activity in different cellular models during DDR, and this activation is further increased by p53 and inhibited by tau phosphorylation at residues implicated in neurological disorders. 31749682 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.010 GeneticVariation disease BEFREE Biallelic PARN mutations were associated with Høyeraal-Hreidarsson (HH) syndrome, a rare telomere biology disorder that, because of its severity, is likely not exclusively due to hTR down-regulation. 31273937 2019
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		0.010 GeneticVariation disease BEFREE PARN mutations have been implicated in a short telomere syndrome characterized by lung, bone marrow, and liver fibrosis; these findings extend the phenotype of PARN mutations to renal fibrosis. 29204651 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE Finally, in vivo study with immuno-competent syngeneic mice shows Z-DAN-11 to be able to impede tumor progression without any adverse side-effects. 29670107 2018
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 GeneticVariation disease BEFREE PARN mutations have been implicated in a short telomere syndrome characterized by lung, bone marrow, and liver fibrosis; these findings extend the phenotype of PARN mutations to renal fibrosis. 29204651 2018
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		0.010 GeneticVariation phenotype BEFREE Among these, loss-of-function mutations were identified in PARN in 2 probands with tubulointerstitial fibrosis. 29204651 2018
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome 		0.010 GeneticVariation phenotype BEFREE PARN mutations have been implicated in a short telomere syndrome characterized by lung, bone marrow, and liver fibrosis; these findings extend the phenotype of PARN mutations to renal fibrosis. 29204651 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 AlteredExpression disease BEFREE Co-expression of both PARN and PLD2 mimicked this pattern in non-cancerous cells (COS-7 fibroblasts) but, surprisingly, not in breast cancer MCF-7 cells, where PARN switches from inhibition to activation of PLD2 gene and protein expression. 28011629 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 Biomarker disease BEFREE The mutation of codon 12 and 13, located in exon1 and exon 2 of k-RAS gene were examined by polymerase chain reaction (PCR) and DAN sequencing in tumor samples of the included 45 NSCLC patients. 28901317 2017
CUI: C0021167
Disease: Incontinence
Incontinence 		0.010 GeneticVariation disease BEFREE The reliability was assessed using Cronbach α and intraclass correlation coefficient (ICC) methods, and the validity using the correlations between the subgroup and overall scores of DAN-PSS and the scores of the Barthel Index (BI), International Consultation on Incontinence Questionnaire Short Form (ICIQ-SF), and Short Form 36 (SF-36). 28946578 2017
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		0.010 GeneticVariation disease BEFREE <b>Conclusion:</b> The DAN DB analysis shows that most dives were made in a "safe zone," even if data show an evident "gray area" in the "mathematical" ability to predict DCS by the current algorithms. 28974936 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE Co-expression of both PARN and PLD2 mimicked this pattern in non-cancerous cells (COS-7 fibroblasts) but, surprisingly, not in breast cancer MCF-7 cells, where PARN switches from inhibition to activation of PLD2 gene and protein expression. 28011629 2017
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		0.010 Biomarker disease BEFREE Our study revealed that FC of ventral and dorsal attention networks DAN was reduced in LBD during all conditions, although most prominently during incongruent trials. 28391039 2017
CUI: C0002390
Disease: Extrinsic allergic alveolitis
Extrinsic allergic alveolitis 		0.010 Biomarker group 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
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.010 Biomarker group 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
CUI: C0016038
Disease: Fibroelastosis
Fibroelastosis 		0.010 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
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		0.010 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
CUI: C2350236
Disease: Idiopathic Interstitial Pneumonias
Idiopathic Interstitial Pneumonias 		0.010 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
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.010 GeneticVariation group BEFREE We identified large monoallelic deletions in PARN in four patients with developmental delay or mental illness. 26342108 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE PARN overexpression correlated with younger patient age and CNOT6 overexpression with non-metastatic tumors. 26541675 2015
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.010 GeneticVariation disease BEFREE Biallelic PARN mutations cause severe bone marrow failure and central hypomyelination. 26342108 2015
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 Biomarker disease BEFREE Our results highlight the clinical significance of PARN and NOC on the survival in SCC diagnosed patients. 26541675 2015
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE We identified large monoallelic deletions in PARN in four patients with developmental delay or mental illness. 26342108 2015