Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. 18437205 2008
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 CausalMutation disease CLINVAR Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 17374725 2007
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 17186472 2006
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 GeneticVariation disease UNIPROT Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 17186472 2006
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker disease CTD_human
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3 		0.700 GeneticVariation disease CLINVAR
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker disease GENOMICS_ENGLAND Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. 18437205 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 GeneticVariation disease BEFREE Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 17186472 2006
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 GeneticVariation group BEFREE Here, we describe for the first time detailed kidney morphology features in a patient with nephrotic syndrome carrying mutations in the PDSS2 gene. 29032433 2018
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group HPO
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE We used the Parkinson's disease sleep scale version two (PDSS-2) and Epworth Sleepiness Scale (ESS) to assess the sleep symptoms. 31438888 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE PD patients with RBD showed higher Non-Motor Symptoms Scale (NMSS) score, higher Hamilton Depression Rating Scale (HAMD) score, higher Hamilton Anxiety Rating Scale (HAMA) score, higher Fatigue Severity Scale (FSS) score, higher PD Sleep Scale 2nd version (PDSS-2) score, lower Montreal Cognitive Assessment (MOCA) score and higher scores for the cognitions and communication domains from the PD Questionnaire-39 (PDQ-39). 30314921 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE The Parkinson's Disease Sleep Scale (PDSS-2) was used to identify sleep disturbances in a series of 229 PD patients. 31372031 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE In addition to the genotypes of rs671, the patients were assessed with the PD sleep scale-2nd version (PDSS-2) and the Epworth sleepiness scale (ESS) for symptoms of daytime and nocturnal sleep disturbances. 31831791 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE We examined the correlations between the Parkinson disease sleep scale-2 (PDSS-2) scores and different variables, namely the Unified Parkinson Disease Rating Scale, Parkinson disease questionnaire, Beck Depression Inventory, and Beck Anxiety Inventory (BAI). 31040814 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE They were assessed using SCOPA, Hoehn and Yahr Scale (HYS), Unified Parkinson's Disease Rating Scale (UPDRS), Parkinson's Disease Sleep Scale 2nd version (PDSS-2), Non-motor Symptoms Scale (NMSS), Montgomery Asberg Depression Scale (MADS), 39-item Parkinson's Disease Questionnaire (PDQ39), Neurogenic Orthostatic Hypotension Questionnaire (NOHQ), and Rapid Eye Movement Sleep Behaviour Disorder Questionnaire (RBDQ). 29215823 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE Each patient completed the Thai version of the Epworth Sleepiness Scale (ESS) questionnaire to evaluate excessive daytime sleepiness (EDS), and the PD Sleep Scale version-2 (PDSS-2) questionnaire to evaluate night-time sleep disturbance. 30731467 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE The results of the Parkinson's Disease Sleep Scale 2nd version (PDSS-2) were heterogeneous, and those on the Snaith-Hamilton Pleasure Scale (SHAPS) were not statistically significant (P = .61). 30099246 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE The Parkinson's Disease Sleep Scale (PDSS) and its variants (the Parkinson's disease Sleep Scale-Revised; PDSS-R, and the Parkinson's Disease Sleep Scale-2; PDSS-2) quantify a range of symptoms impacting sleep in only 15 items. 29432463 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE Co-primary outcome measures were the changes between baseline and end of the treatment period in sleep maintenance/efficiency as assessed by polysomnography and the Parkinson's Disease Sleep Scale Version 2 (PDSS-2) score. 29322594 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE HPDC treatment led to improvement of all applied motor (UPDRS III, AIMS) and non-motor (BDI-II, MoCA, PDNMS, PDSS-2, King's PD Pain Scale, QUIP, PDQ-39) scores (p < 0.05) indicating benefits for akinesia, tremor, dyskinesia, cognition, sleep, pain, impulse control disorders and quality of life. 30167934 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE To assess insomnia, the Pittsburgh Sleep Quality Index, a generic scale, and three disease-specific scales: the Parkinson Disease Sleep Scale (PDSS), the PDSS-2, and Scales for outcomes in Parkinson's disease (PD)-Sleep-Nocturnal Sleep subscale are discussed. 29896152 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. 29221444 2017