PAPOLA, poly(A) polymerase alpha, 10914

N. diseases: 79; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Idiopathic pulmonary arterial hypertension
0.030 GeneticVariation disease BEFREE Patients were classified as PAH if echocardiographic systolic pulmonary artery pressure (sPAP) ≥50 mmHg or right heart catheterization (RHC) mean PAP ≥25 mmHg. 31810742 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 Biomarker group BEFREE All asymptomatic individuals underwent screening investigations for malignancy including PAP smear, mammography, low-dose computed tomography, evaluation of cancer antigen 125, cancer antigen 19-9, alpha fetoprotein, carcinoembryonic antigen, prostate specific antigen (PSA) levels and clinical examination to identify healthy individuals with no indication of cancer. 31785151 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 Biomarker group BEFREE All asymptomatic individuals underwent screening investigations for malignancy including PAP smear, mammography, low-dose computed tomography, evaluation of cancer antigen 125, cancer antigen 19-9, alpha fetoprotein, carcinoembryonic antigen, prostate specific antigen (PSA) levels and clinical examination to identify healthy individuals with no indication of cancer. 31785151 2019
CUI: C0003578
Disease: Apnea
Apnea
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
CUI: C0009319
Disease: Colitis
Colitis
0.010 Biomarker disease BEFREE PAP protein plays a protective effect presenting anti-inflammatory properties able to reduce the severity of colitis, preserving gut barrier and epithelial inflammation. 31325218 2019
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
0.010 Biomarker group BEFREE Many studies show psychoses after some antiepileptic drug (AED) administrations (post-AED administration psychoses [PAP]). 31252268 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker group BEFREE Herein we describe the epidemiological characteristics of I-PAP in 697 newborns, 383 males and 314 females identified in 1,178,993 examined live births from a multicenter case-control hospital-based population study, the Mexican program of Registry and Epidemiological Surveillance of Congenital Malformations (RYVEMCE). 31091006 2019
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.010 Biomarker disease BEFREE Our results suggest that patients' symptoms in symptomatic COPD groups B and D might be related to increased PAP and concomitant cardiovascular comorbidities. 31037993 2019
CUI: C0021364
Disease: Male infertility
Male infertility
0.010 AlteredExpression phenotype BEFREE The study indicated that miR-125b-2 had a positive influence on the reproductive performance of animals by regulating the expression of the PAP gene, and could be a potential drugs and diagnostic target for male infertility. 30609807 2019
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.020 Biomarker disease BEFREE Risk-adjusted analyses demonstrated higher PP (adjusted hazard ratio [aHR], 1.32; 95% confidence interval [CI], 1.20-1.45; P < .001), PAP (aHR, 1.32; 95% CI, 1.19-1.45; P < .001), SP (aHR, 1.47; 95% CI, 1.31-1.65; P < .001), limb salvage (aHR, 1.48; 95% CI, 1.30-1.67; P < .001), and patient survival (aHR, 2.42; 95% CI, 2.17-2.71; P < .001) for RT compared with HD patients. 30583904 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.020 Biomarker disease BEFREE Risk-adjusted analyses demonstrated higher PP (adjusted hazard ratio [aHR], 1.32; 95% confidence interval [CI], 1.20-1.45; P < .001), PAP (aHR, 1.32; 95% CI, 1.19-1.45; P < .001), SP (aHR, 1.47; 95% CI, 1.31-1.65; P < .001), limb salvage (aHR, 1.48; 95% CI, 1.30-1.67; P < .001), and patient survival (aHR, 2.42; 95% CI, 2.17-2.71; P < .001) for RT compared with HD patients. 30583904 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.010 Biomarker phenotype BEFREE We found reduced levels of mRNA of EGA markers PAPOLA and U2AF1A, which can be related to this developmental delay. 30535233 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 Biomarker disease BEFREE We found reduced levels of mRNA of EGA markers PAPOLA and U2AF1A, which can be related to this developmental delay. 30535233 2019
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
0.050 GeneticVariation disease BEFREE Current Treatment of Comorbid Insomnia and Obstructive Sleep Apnea With CBTI and PAP-Therapy: A Systematic Review. 30420826 2018
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia
0.030 GeneticVariation disease BEFREE Cases were categorized as cervical dysplasia only (S2) or cervical dysplasia with conization (S1) and compared to healthy controls with a normal PAP smear. 30374649 2019
CUI: C0007868
Disease: Cervical dysplasia
Cervical dysplasia
0.010 GeneticVariation disease BEFREE Cases were categorized as cervical dysplasia only (S2) or cervical dysplasia with conization (S1) and compared to healthy controls with a normal PAP smear. 30374649 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.010 Biomarker phenotype BEFREE This case provides support in favor of a bidirectional relationship between SDB and AF and suggests that data available from PAP machines may be useful in serial assessment of SDB status relative to heart rhythm. 30373693 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.010 Biomarker disease BEFREE This case provides support in favor of a bidirectional relationship between SDB and AF and suggests that data available from PAP machines may be useful in serial assessment of SDB status relative to heart rhythm. 30373693 2018
CUI: C4551689
Disease: Sleep-Disordered Breathing
Sleep-Disordered Breathing
0.010 Biomarker disease BEFREE This case provides support in favor of a bidirectional relationship between SDB and AF and suggests that data available from PAP machines may be useful in serial assessment of SDB status relative to heart rhythm. 30373693 2018
X-linked recessive nephrolithiasis with renal failure
0.010 Biomarker disease BEFREE Here we provide further evidence of circadian regulation by SAL1-PAP-XRN signalling, thereby affirming a link between molecular timekeeping and abiotic stress response mechanisms. 30081763 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 Biomarker disease BEFREE Survival duration (time elapsed from baseline onset until death) is compared on the basis of Bi-PAP initiation threshold (FVC %predict); daily Bi-PAP usage protocol (hours/day); daily cough assist usage (users or non-users); ALS onset type; ALSFRS-R score; and time elapsed from baseline onset until Bi-PAP initiation, using Kruskal-Wallis one-way analysis of variance and Kaplan Meier. 30050497 2018
CUI: C0010200
Disease: Coughing
Coughing
0.010 Biomarker phenotype BEFREE Survival duration (time elapsed from baseline onset until death) is compared on the basis of Bi-PAP initiation threshold (FVC %predict); daily Bi-PAP usage protocol (hours/day); daily cough assist usage (users or non-users); ALS onset type; ALSFRS-R score; and time elapsed from baseline onset until Bi-PAP initiation, using Kruskal-Wallis one-way analysis of variance and Kaplan Meier. 30050497 2018
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1
0.010 Biomarker disease BEFREE The PrevOP-PAP-CTRL includes the motivational intervention only.Primary outcome will be OAK symptoms. 30021578 2018
CUI: C0037384
Disease: Snoring
Snoring
0.010 Biomarker phenotype BEFREE A blinded scorer classified the hypopneas based on two groups of signals: Group 1: positive airway pressure flow (PAP flow), chest and abdominal effort, and snoring; or Group 2: smoothed PAP flow (for blinding amplitude but not flattening visible) and effort (CW-EMG-EF). 29734977 2018
CUI: C4285911
Disease: C5 palsy
C5 palsy
0.010 GeneticVariation disease BEFREE Four cases of C5 palsy occurred in seven patients in PAP, although prophylactic foraminotomy was performed. 29729950 2018