Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 Biomarker GENOMICS_ENGLAND Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. 18437205

2008

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 CausalMutation CLINVAR Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 17374725

2007

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 Biomarker GENOMICS_ENGLAND Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 17186472

2006

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 GeneticVariation UNIPROT Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 17186472

2006

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 Biomarker CTD_human

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C3553358
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 3
0.700 GeneticVariation CLINVAR

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.310 Biomarker GENOMICS_ENGLAND Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. 18437205

2008

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.310 GeneticVariation BEFREE Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. 17186472

2006

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.110 GeneticVariation 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.110 Biomarker HPO

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker BEFREE The Parkinson's Disease Sleep Scale (PDSS-2) was used to identify sleep disturbances in a series of 229 PD patients. 31372031

2019

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 GeneticVariation 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.100 Biomarker 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

Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation GWASCAT Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. 29221444

2017