PPR1, Photoparoxysmal response 1, 100528023

N. diseases: 19; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015967
Disease: Fever
Fever
0.010 AlteredExpression phenotype BEFREE We also found that the expression level of most PPR genes decreased with the temperature rises, which may contribute to the decline of RNA editing efficiency at high temperature. 31745671 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 AlteredExpression disease BEFREE Texas Leukemia provided funds to PPR and SMK to study CD74 and LGALS3 expression in AML patients using RPPA. 31105032 2019
CUI: C0036572
Disease: Seizures
Seizures
0.010 Biomarker phenotype BEFREE Preventive measures for related seizures should be performed to the patients with generalized PPR, upper threshold evoking frequency, and eyes closure sensitivity when they received the IPS. 31526678 2019
CUI: C0524662
Disease: Opiate Addiction
Opiate Addiction
0.010 AlteredExpression disease BEFREE Subsidiary analyses suggested possibly accelerated progression toward higher OD levels when extra-medical PPR use starts before age 18. 31518887 2019
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
0.010 Biomarker disease BEFREE Hence, a thorough understanding of PPRV receptors and the mechanism involved in the induction of immunosuppression is crucial for controlling PPR. 31398809 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.010 Biomarker disease BEFREE The calculated PPR by disease area was within or above the desirable range for atrial fibrillation (0.8 to 1.1), hypertension (0.9), and pulmonary arterial hypertension (1.4); PPR was <0.8 for heart failure (0.5 to 0.6), coronary artery disease (0.6), and acute coronary syndrome/myocardial infarction (0.6). 29724348 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.010 Biomarker disease BEFREE The calculated PPR by disease area was within or above the desirable range for atrial fibrillation (0.8 to 1.1), hypertension (0.9), and pulmonary arterial hypertension (1.4); PPR was <0.8 for heart failure (0.5 to 0.6), coronary artery disease (0.6), and acute coronary syndrome/myocardial infarction (0.6). 29724348 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 Biomarker group BEFREE The calculated PPR by disease area was within or above the desirable range for atrial fibrillation (0.8 to 1.1), hypertension (0.9), and pulmonary arterial hypertension (1.4); PPR was <0.8 for heart failure (0.5 to 0.6), coronary artery disease (0.6), and acute coronary syndrome/myocardial infarction (0.6). 29724348 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 Biomarker disease BEFREE The calculated PPR by disease area was within or above the desirable range for atrial fibrillation (0.8 to 1.1), hypertension (0.9), and pulmonary arterial hypertension (1.4); PPR was <0.8 for heart failure (0.5 to 0.6), coronary artery disease (0.6), and acute coronary syndrome/myocardial infarction (0.6). 29724348 2018
CUI: C0035854
Disease: Rosacea
Rosacea
0.010 Biomarker disease BEFREE However, RF treatment led to a significantly greater decrease in papulopustular lesion count and rosacea severity score in PPR compared with PDL treatment. 27893539 2017
SPINOCEREBELLAR ATAXIA 31 (disorder)
0.010 Biomarker disease BEFREE We report that expression of expanded UGGAA (UGGAA<sub>exp</sub>) repeats, responsible for spinocerebellar ataxia type 31 (SCA31) in Drosophila, causes neurodegeneration accompanied by accumulation of UGGAA<sub>exp</sub> RNA foci and translation of repeat-associated pentapeptide repeat (PPR) proteins, consistent with observations in SCA31 patient brains. 28343865 2017
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism
0.010 Biomarker disease BEFREE Intracortical porosities and marrow fibrosis are hallmarks of hyperparathyroidism and are present in bones of transgenic mice expressing constitutively active parathyroid hormone/parathyroid hormone-related protein receptors (PPR*Tg). 19389927 2009
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy
0.010 GeneticVariation disease BEFREE Recently, we mapped two susceptibility loci for epilepsy-related photosensitivity (or photoparoxysmal response, PPR) at regions 7q32 (PPR1) and 16p13 (PPR2) in PPR families with prominent myoclonic seizures background (MS-related PPR). 17123300 2007
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures
0.010 GeneticVariation phenotype BEFREE Recently, we mapped two susceptibility loci for epilepsy-related photosensitivity (or photoparoxysmal response, PPR) at regions 7q32 (PPR1) and 16p13 (PPR2) in PPR families with prominent myoclonic seizures background (MS-related PPR). 17123300 2007
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 Biomarker disease BEFREE In particular, patients with PPR had a 4-year EFS of 61.1% (SE, 4.4%) versus 42.8% (SE, 5.4%) in the ALL 91 study (P =.008). 12091331 2002
Childhood Acute Lymphoblastic Leukemia
0.010 Biomarker disease BEFREE In particular, patients with PPR had a 4-year EFS of 61.1% (SE, 4.4%) versus 42.8% (SE, 5.4%) in the ALL 91 study (P =.008). 12091331 2002
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.010 Biomarker disease BEFREE In particular, patients with PPR had a 4-year EFS of 61.1% (SE, 4.4%) versus 42.8% (SE, 5.4%) in the ALL 91 study (P =.008). 12091331 2002
CUI: C4324336
Disease: Hyperleukocytosis
Hyperleukocytosis
0.010 GeneticVariation disease BEFREE Among PPR patients, those who were PPR-only (60.1%)-that is, they achieved CR and were negative for t(9;22) and t(4;11) translocations-had the best outcomes with this intensive treatment, even when additional adverse features (hyperleukocytosis, T phenotype) were present (4-year EFS, 70.1%; SE, 4.7%). 12091331 2002
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.010 GeneticVariation disease BEFREE In studies starting from a neurobiological genetic point of view including the whole spectrum of PPR, the phenomenon could be shown to be a widespread condition being only loosely associated with epilepsy, but more often with symptoms of psychovegetative instability. 8309513 1993