| Trait Information | |
| Identifier | MONDO_0100545 |
| Description | A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles. | Trait categories |
Neurological disorder
Other disease
|
| Synonym | neurogenetic disease |
| Child trait(s) | 3 child traits |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000056 (PD_PRS) |
PGP000041 | Paul KC et al. JAMA Neurol (2018) |
Parkinson's disease | Parkinson disease | 23 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000056/ScoringFiles/PGS000056.txt.gz |
| PGS000123 (2017_PD16) |
PGP000059 | Ibanez L et al. BMC Neurol (2017) |
Parkinson's disease | Parkinson disease | 16 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000123/ScoringFiles/PGS000123.txt.gz |
| PGS000211 (PD19) |
PGP000087 | Pihlstrøm L et al. Mov Disord (2016) |
Parkinson's disease | Parkinson disease | 19 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000211/ScoringFiles/PGS000211.txt.gz |
| PGS000750 (PRS_43) |
PGP000155 | Bobbili DR et al. J Med Genet (2020) |
Parkinson's disease | Parkinson disease | 43 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000750/ScoringFiles/PGS000750.txt.gz |
| PGS000777 (PHS3_PDD) |
PGP000181 | Liu G et al. Nat Genet (2021) |
Parkinson's disease dementia | cognitive decline measurement, Parkinson disease |
3 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000777/ScoringFiles/PGS000777.txt.gz | |
| PGS000902 (PRS90_PD) |
PGP000235 | Nalls MA et al. Lancet Neurol (2019) |
Parkinson's disease | Parkinson disease | 90 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000902/ScoringFiles/PGS000902.txt.gz | |
| PGS000903 (PRS1805_PD) |
PGP000235 | Nalls MA et al. Lancet Neurol (2019) |
Parkinson's disease | Parkinson disease | 1,805 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000903/ScoringFiles/PGS000903.txt.gz | |
| PGS000990 (GBE_HC878) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Retinal detachments and breaks (time-to-event) | retinal break, retinal detachment |
237 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000990/ScoringFiles/PGS000990.txt.gz |
| PGS001137 (GBE_HC302) |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Retinal detachment | retinal detachment | 321 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001137/ScoringFiles/PGS001137.txt.gz |
| PGS001353 (PRS6_PD) |
PGP000250 | Sia MW et al. Mov Disord (2021) |
Parkinson's disease | Parkinson disease | 6 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001353/ScoringFiles/PGS001353.txt.gz |
| PGS001774 (PRS12_PD) |
PGP000254 | Chairta PP et al. Genes (Basel) (2021) |
Parkinson's disease | Parkinson disease | 12 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001774/ScoringFiles/PGS001774.txt.gz |
| PGS001833 (portability-PLR_361) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Retinal detachments and defects | retinal detachment | 3,737 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001833/ScoringFiles/PGS001833.txt.gz |
| PGS001834 (portability-PLR_362.29) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Macular degeneration (senile) of retina NOS | age-related macular degeneration | 157 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001834/ScoringFiles/PGS001834.txt.gz |
| PGS002040 (portability-ldpred2_361) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Retinal detachments and defects | retinal detachment | 706,872 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002040/ScoringFiles/PGS002040.txt.gz |
| PGS002041 (portability-ldpred2_362.29) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Macular degeneration (senile) of retina NOS | age-related macular degeneration | 116,538 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002041/ScoringFiles/PGS002041.txt.gz |
| PGS002269 (PRS47_AMD) |
PGP000299 | Zekavat SM et al. Ophthalmology (2022) |
Age-related macular degeneration | age-related macular degeneration | 47 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002269/ScoringFiles/PGS002269.txt.gz |
| PGS003763 (PRS44_PD) |
PGP000486 | Zheng Z et al. JAMA Neurol (2023) |
Parkinson's disease | Parkinson disease | 44 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003763/ScoringFiles/PGS003763.txt.gz |
| PGS004606 (AMD-IAMDGC-EUR) |
PGP000582 | Gorman BR et al. Nat Genet (2024) |
Age-related macular degeneration | age-related macular degeneration | 1,000,946 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004606/ScoringFiles/PGS004606.txt.gz |
| PGS004607 (AMD-MVP-AFR) |
PGP000582 | Gorman BR et al. Nat Genet (2024) |
Age-related macular degeneration | age-related macular degeneration | 1,067,520 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004607/ScoringFiles/PGS004607.txt.gz |
| PGS004924 (PRS90_PD) |
PGP000657 | Cao Z et al. Parkinsonism Relat Disord (2023) |
Parkinson's disease | Parkinson disease | 90 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004924/ScoringFiles/PGS004924.txt.gz |
| PGS004952 (PRS52_AMD) |
PGP000673 | Herold JM et al. Invest Ophthalmol Vis Sci (2023) |
Age-related macular degeneration | age-related macular degeneration | 52 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004952/ScoringFiles/PGS004952.txt.gz |
| PGS012584 (PRS44_PD) |
PGP000818 | Geng T et al. NPJ Parkinsons Dis (2024) |
Parkinson's disease | Parkinson disease | 44 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012584/ScoringFiles/PGS012584.txt.gz |
| PGS019006 (TPMI_361_Lassosum2) |
PGP000835 | Chen HH et al. Nature (2025) |
Retinal detachments and defects | retinal detachment | 37,750 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019006/ScoringFiles/PGS019006.txt.gz | |
| PGS019007 (TPMI_361_LDpred2) |
PGP000835 | Chen HH et al. Nature (2025) |
Retinal detachments and defects | retinal detachment | 336,398 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019007/ScoringFiles/PGS019007.txt.gz | |
| PGS019008 (TPMI_361_MegaPRS) |
PGP000835 | Chen HH et al. Nature (2025) |
Retinal detachments and defects | retinal detachment | 20,644 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019008/ScoringFiles/PGS019008.txt.gz | |
| PGS019009 (TPMI_361_PRS-CS) |
PGP000835 | Chen HH et al. Nature (2025) |
Retinal detachments and defects | retinal detachment | 983,814 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019009/ScoringFiles/PGS019009.txt.gz | |
| PGS019010 (TPMI_361_SBayesR) |
PGP000835 | Chen HH et al. Nature (2025) |
Retinal detachments and defects | retinal detachment | 994,334 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019010/ScoringFiles/PGS019010.txt.gz |
|
PGS Performance Metric ID (PPM) |
Evaluated Score |
PGS Sample Set ID (PSS) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
Classification Metrics | Other Metrics | Covariates Included in the Model |
PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|---|
| PPM000142 | PGS000056 (PD_PRS) |
PSS000088| European Ancestry| 285 individuals |
PGP000041 | Paul KC et al. JAMA Neurol (2018) |
Reported Trait: Motor decline (time to UPDRS III 20-point increase | HR: 1.42 [1.0, 2.01] | — | — | sex, age at diagnosis | — |
| PPM000143 | PGS000056 (PD_PRS) |
PSS000088| European Ancestry| 285 individuals |
PGP000041 | Paul KC et al. JAMA Neurol (2018) |
Reported Trait: Motor decline (time to H&Y Scale stage ≥ 3) | HR: 1.34 [1.0, 1.79] | — | — | sex, age at diagnosis | — |
| PPM000141 | PGS000056 (PD_PRS) |
PSS000088| European Ancestry| 285 individuals |
PGP000041 | Paul KC et al. JAMA Neurol (2018) |
Reported Trait: Cognitive decline (time to MMSE 4-point decrease) | HR: 1.44 [1.0, 2.07] | — | — | sex, age at diagnosis | — |
| PPM000398 | PGS000123 (2017_PD16) |
PSS000226| European Ancestry| 786 individuals |
PGP000059 | Ibanez L et al. BMC Neurol (2017) |
Reported Trait: Age at Onset (Survival) | β: 9.3 [3.59, 15.0] | — | Association (p-value): 0.00141 | age at last assessment, sex, 2 PCs of ancestry | Cox regression |
| PPM000396 | PGS000123 (2017_PD16) |
PSS000225| European Ancestry| 469 individuals |
PGP000059 | Ibanez L et al. BMC Neurol (2017) |
Reported Trait: Age at Onset (Survival) | β: 16.62 [9.63, 23.61] | — | Association (p-value): 3.19e-06 | age at last assessment, sex, 2 PCs of ancestry | Cox regression |
| PPM000397 | PGS000123 (2017_PD16) |
PSS000226| European Ancestry| 786 individuals |
PGP000059 | Ibanez L et al. BMC Neurol (2017) |
Reported Trait: Parkinson disease | β: 4.85 [2.32, 7.39] | — | Association (p-value): 0.00018 | age at last assessment, sex, 2 PCs of ancestry | — |
| PPM000395 | PGS000123 (2017_PD16) |
PSS000225| European Ancestry| 469 individuals |
PGP000059 | Ibanez L et al. BMC Neurol (2017) |
Reported Trait: Parkinson disease | β: 5.84 [3.1, 8.59] | — | Association (p-value): 3e-05 | age at last assessment, sex, 2 PCs of ancestry | — |
| PPM000648 | PGS000211 (PD19) |
PSS000358| European Ancestry| 336 individuals |
PGP000087 | Pihlstrøm L et al. Mov Disord (2016) |
Reported Trait: Motor decline (time to Hoehn & Yahr ≥ 3) | HR: 1.29 [1.06, 1.56] | — | — | sex, age at diagnosis | — |
| PPM001904 | PGS000750 (PRS_43) |
PSS000952| Multi-ancestry (including European)| 486 individuals |
PGP000155 | Bobbili DR et al. J Med Genet (2020) |
Reported Trait: Parkinson's disease | — | AUROC: 0.703 [0.698, 0.708] | — | Sex, singleton loss of function variant count, Parkinson's disease family history. | Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit |
| PPM001905 | PGS000750 (PRS_43) |
PSS000952| Multi-ancestry (including European)| 486 individuals |
PGP000155 | Bobbili DR et al. J Med Genet (2020) |
Reported Trait: Parkinson's disease | — | AUROC: 0.653 [0.647, 0.659] | — | Sex, singleton loss of function variant count. | Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit |
| PPM001906 | PGS000750 (PRS_43) |
PSS000952| Multi-ancestry (including European)| 486 individuals |
PGP000155 | Bobbili DR et al. J Med Genet (2020) |
Reported Trait: Parkinson's disease | — | AUROC: 0.616 [0.611, 0.621] | — | Sex | Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit |
| PPM002014 | PGS000777 (PHS3_PDD) |
PSS000997| Multi-ancestry (including European)| 404 individuals |
PGP000181 | Liu G et al. Nat Genet (2021) |
Reported Trait: Parkinson's disease dementia | HR: 2.05 [1.16, 3.61] | AUROC: 0.688 [0.519, 0.817] | Hazard's Ratio (HR, top 25% vs PHS of 0): 3.2 [1.26, 8.11] | Age at Parkinson's disease onset, sex, years of education, PCs(1-10), study cohort, genetic factors (genes: GBA, APOE ε4) | — |
| PPM002665 | PGS000902 (PRS90_PD) |
PSS001174| Multi-ancestry (including European)| 999 individuals |
PGP000235 | Nalls MA et al. Lancet Neurol (2019) |
Reported Trait: Parkinson's disease | — | AUROC: 0.651 [0.617, 0.684] | — | PCs(1-5), age, sex | Only 88 SNPs from the 90 SNP PRS were utilised. 2 SNPs were not included as they failed to pass quality control in the HBS cohort. |
| PPM018174 | PGS000902 (PRS90_PD) |
PSS010943| Ancestry Not Reported| 986 individuals |
PGP000458 | Pavelka L et al. NPJ Parkinsons Dis (2022) |Ext. |
Reported Trait: Age at onset of parkinson disease | — | — | Correlation: -0.11 | — | — |
| PPM018547 | PGS000902 (PRS90_PD) |
PSS011016| Multi-ancestry (including European)| 3,427 individuals |
PGP000479 | Blauwendraat C et al. Mov Disord (2023) |Ext. |
Reported Trait: Parkinson's disease | OR: 1.575 [1.444, 1.717] β: 0.4541 (0.0443) |
— | — | — | 85 of 90 variants of PGS000902 was used excluding full GBA1 region, and two additional variants (chr10:119776815:G:A and chr19:2341049:C:T) |
| PPM018548 | PGS000902 (PRS90_PD) |
PSS011017| Multi-ancestry (including European)| 225 individuals |
PGP000479 | Blauwendraat C et al. Mov Disord (2023) |Ext. |
Reported Trait: Parkinson's disease with Gaucher Disease | OR: 1.687 [1.099, 2.589] β: 0.5228 (0.2186) |
— | — | — | 85 of 90 variants of PGS000902 was used excluding full GBA1 region, and two additional variants (chr10:119776815:G:A and chr19:2341049:C:T) |
| PPM023054 | PGS000902 (PRS90_PD) |
PSS012105| Ancestry Not Reported| 3,453 individuals |
PGP000765 | Gandhi SE et al. Mov Disord Clin Pract (2024) |Ext. |
Reported Trait: dyskinesia (2-4 years after diagnosis) | OR: 1.34 [1.036, 1.737] | — | — | Age at diagnosis, Female gender, Interpolated BMI, Education > 12 years, MDS-UPDRS part 1, Depression (score > 0), Anxiety (score > 0), MDS-UPDRS part 2, MDS-UPDRS part 3, MDS-UPDRS part 3 tremor subscore, HY3 plus, MDS-UPDRS part 3 progression, Total LEDD | — |
| PPM023055 | PGS000902 (PRS90_PD) |
PSS012105| Ancestry Not Reported| 3,453 individuals |
PGP000765 | Gandhi SE et al. Mov Disord Clin Pract (2024) |Ext. |
Reported Trait: dyskinesia (8=10 years after diagnosis) | OR: 1.401 [1.024, 1.93] | — | — | Age at diagnosis, Female gender, Interpolated BMI, Education > 12 years, MDS-UPDRS part 1, Depression (score > 0), Anxiety (score > 0), MDS-UPDRS part 2, MDS-UPDRS part 3, MDS-UPDRS part 3 tremor subscore, HY3 plus, MDS-UPDRS part 3 progression, Total LEDD | — |
| PPM002664 | PGS000903 (PRS1805_PD) |
PSS001174| Multi-ancestry (including European)| 999 individuals |
PGP000235 | Nalls MA et al. Lancet Neurol (2019) |
Reported Trait: Parkinson's disease | β: 0.709 (0.072) | AUROC: 0.692 | R²: 0.054 Odds Ratio (OR, top 25% vs bottom 25%): 6.25 [4.26, 9.28] |
PCs(1-5), age, sex | — |
| PPM012831 | PGS000903 (PRS1805_PD) |
PSS009572| European Ancestry| 6,378 individuals |
PGP000281 | Koch S et al. Genes (Basel) (2021) |Ext. |
Reported Trait: Parkinson's disease | — | AUROC: 0.645 [0.63, 0.66] | Nagelkerke’s Pseudo-R2: 0.348 | sex, age and first three PCs | Quality control led to the exclusion of 62 of the original 1805 PD-PRS SNPs |
| PPM012832 | PGS000903 (PRS1805_PD) |
PSS009572| European Ancestry| 6,378 individuals |
PGP000281 | Koch S et al. Genes (Basel) (2021) |Ext. |
Reported Trait: Parkinson's disease prognosis | — | — | Sensitivity: 0.581 [0.479, 0.625] Specificity: 0.625 [0.472, 0.725] |
— | Cost of 1: optimal threshold for PD-PRS as determined by maximizing a weighted Youden index = 0.33 |
| PPM012833 | PGS000903 (PRS1805_PD) |
PSS009572| European Ancestry| 6,378 individuals |
PGP000281 | Koch S et al. Genes (Basel) (2021) |Ext. |
Reported Trait: Parkinson's disease (age at onset) | — | AUROC: 0.59 [0.551, 0.629] | Nagelkerke’s Pseudo-R2: 0.039 | sex, age and first three PCs | Quality control led to the exclusion of 62 of the original 1805 PD-PRS SNPs |
| PPM014928 | PGS000903 (PRS1805_PD) |
PSS009933| South Asian Ancestry| 90 individuals |
PGP000360 | Kukkle PL et al. Adv Biol (Weinh) (2022) |Ext. |
Reported Trait: Young onset Parkinson’s disease | — | — | Odds ratio, OR (high vs low risk): 1.92 | — | — |
| PPM007718 | PGS000990 (GBE_HC878) |
PSS004682| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE retinal detachments and breaks | — | AUROC: 0.61927 [0.54935, 0.68918] | R²: 0.0247 Incremental AUROC (full-covars): -0.01882 PGS R2 (no covariates): 0.00198 PGS AUROC (no covariates): 0.46633 [0.38893, 0.54373] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM007719 | PGS000990 (GBE_HC878) |
PSS004683| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE retinal detachments and breaks | — | AUROC: 0.75788 [0.63933, 0.87643] | R²: 0.10693 Incremental AUROC (full-covars): 0.0196 PGS R2 (no covariates): 0.01417 PGS AUROC (no covariates): 0.5954 [0.44975, 0.74105] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM007720 | PGS000990 (GBE_HC878) |
PSS004684| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE retinal detachments and breaks | — | AUROC: 0.64308 [0.61279, 0.67337] | R²: 0.02565 Incremental AUROC (full-covars): 0.00606 PGS R2 (no covariates): 0.00213 PGS AUROC (no covariates): 0.54152 [0.50847, 0.57457] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM007721 | PGS000990 (GBE_HC878) |
PSS004685| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE retinal detachments and breaks | — | AUROC: 0.71433 [0.66221, 0.76646] | R²: 0.05371 Incremental AUROC (full-covars): 0.0098 PGS R2 (no covariates): 0.00492 PGS AUROC (no covariates): 0.56225 [0.49739, 0.62711] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM007722 | PGS000990 (GBE_HC878) |
PSS004686| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE retinal detachments and breaks | — | AUROC: 0.63532 [0.61784, 0.65279] | R²: 0.02226 Incremental AUROC (full-covars): 0.00479 PGS R2 (no covariates): 0.00207 PGS AUROC (no covariates): 0.53945 [0.52027, 0.55863] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM008412 | PGS001137 (GBE_HC302) |
PSS004418| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Retinal detachment | — | AUROC: 0.65217 [0.57926, 0.72508] | R²: 0.03407 Incremental AUROC (full-covars): -0.00918 PGS R2 (no covariates): 1e-05 PGS AUROC (no covariates): 0.49921 [0.41839, 0.58004] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM008413 | PGS001137 (GBE_HC302) |
PSS004419| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Retinal detachment | — | AUROC: 0.7872 [0.68424, 0.89016] | R²: 0.13209 Incremental AUROC (full-covars): 0.01471 PGS R2 (no covariates): 0.00931 PGS AUROC (no covariates): 0.57064 [0.39309, 0.74819] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM008414 | PGS001137 (GBE_HC302) |
PSS004420| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Retinal detachment | — | AUROC: 0.65311 [0.62153, 0.68468] | R²: 0.02791 Incremental AUROC (full-covars): 0.01854 PGS R2 (no covariates): 0.00663 PGS AUROC (no covariates): 0.57317 [0.53771, 0.60862] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM008415 | PGS001137 (GBE_HC302) |
PSS004421| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Retinal detachment | — | AUROC: 0.73537 [0.67789, 0.79285] | R²: 0.0635 Incremental AUROC (full-covars): 0.01358 PGS R2 (no covariates): 0.00738 PGS AUROC (no covariates): 0.55915 [0.48569, 0.63261] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM008416 | PGS001137 (GBE_HC302) |
PSS004422| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: Retinal detachment | — | AUROC: 0.63847 [0.61945, 0.65749] | R²: 0.02286 Incremental AUROC (full-covars): 0.00912 PGS R2 (no covariates): 0.00357 PGS AUROC (no covariates): 0.55079 [0.52979, 0.57179] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM005177 | PGS001353 (PRS6_PD) |
PSS003601| Additional Asian Ancestries| 25,646 individuals |
PGP000250 | Sia MW et al. Mov Disord (2021) |
Reported Trait: Parkinson's disease | — | C-index: 0.63 [0.6, 0.66] | Hazard Ratio (HR, top 33.3% vs bottom 33.3%): 1.81 [1.37, 2.39] Hazard Ratio (HR, top 33.3% vs middle 33.3%): 1.35 [1.0, 1.83] |
Age of recruitment, year of interview (1993-1995, 1996-1998), dialect group (Cantonese, Hokkien), level of education (no formal education, primary school, secondary school or higher), body mass index (<20, 20-<24, 24-<28, 28+ kg/m2) | — |
| PPM009233 | PGS001774 (PRS12_PD) |
PSS007662| European Ancestry| 699 individuals |
PGP000254 | Chairta PP et al. Genes (Basel) (2021) |
Reported Trait: Parkinson's disease | OR: 1.39 [1.06, 1.84] | AUROC: 0.55 | — | — | Prior to imputation of missing data |
| PPM009234 | PGS001774 (PRS12_PD) |
PSS007662| European Ancestry| 699 individuals |
PGP000254 | Chairta PP et al. Genes (Basel) (2021) |
Reported Trait: Parkinson's disease | — | AUROC: 0.79 [0.75, 0.83] | — | Age, gender, head injury, family history of Parkinson's disease, depression, smoking (current or ever), body mass index | Prior to imputation of missing data |
| PPM009235 | PGS001774 (PRS12_PD) |
PSS007662| European Ancestry| 699 individuals |
PGP000254 | Chairta PP et al. Genes (Basel) (2021) |
Reported Trait: Parkinson's disease | OR: 1.39 [1.06, 1.83] | AUROC: 0.55 | — | — | Following imputation of missing data |
| PPM009236 | PGS001774 (PRS12_PD) |
PSS007662| European Ancestry| 699 individuals |
PGP000254 | Chairta PP et al. Genes (Basel) (2021) |
Reported Trait: Parkinson's disease | — | AUROC: 0.8 [0.77, 0.84] | — | Age, gender, head injury, family history of Parkinson's disease, depression, smoking (current or ever), body mass index | Following imputation of missing data |
| PPM009556 | PGS001833 (portability-PLR_361) |
PSS009303| European Ancestry| 19,445 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0218 [0.0078, 0.0359] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009557 | PGS001833 (portability-PLR_361) |
PSS009077| European Ancestry| 4,055 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0304 | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009558 | PGS001833 (portability-PLR_361) |
PSS008631| European Ancestry| 6,514 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0086 [-0.0157, 0.0329] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009559 | PGS001833 (portability-PLR_361) |
PSS008405| Greater Middle Eastern Ancestry| 1,169 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): -0.0283 [-0.086, 0.0296] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009560 | PGS001833 (portability-PLR_361) |
PSS008185| South Asian Ancestry| 6,095 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0155 [-0.0096, 0.0406] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009561 | PGS001833 (portability-PLR_361) |
PSS007969| East Asian Ancestry| 1,773 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0326 [-0.0142, 0.0793] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009562 | PGS001833 (portability-PLR_361) |
PSS007751| African Ancestry| 2,384 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0172 [-0.0231, 0.0575] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009563 | PGS001833 (portability-PLR_361) |
PSS008855| African Ancestry| 3,743 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.012 [-0.0201, 0.0441] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009565 | PGS001834 (portability-PLR_362.29) |
PSS009078| European Ancestry| 4,043 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0258 [-0.0051, 0.0567] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009566 | PGS001834 (portability-PLR_362.29) |
PSS008632| European Ancestry| 6,470 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0177 [-0.0067, 0.0421] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009567 | PGS001834 (portability-PLR_362.29) |
PSS008406| Greater Middle Eastern Ancestry| 1,165 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): -0.03 [-0.0877, 0.028] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009568 | PGS001834 (portability-PLR_362.29) |
PSS008186| South Asian Ancestry| 6,037 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0368 [0.0116, 0.062] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009569 | PGS001834 (portability-PLR_362.29) |
PSS007970| East Asian Ancestry| 1,775 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): -0.0304 [-0.0771, 0.0164] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009570 | PGS001834 (portability-PLR_362.29) |
PSS007752| African Ancestry| 2,374 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0015 [-0.0389, 0.0419] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009571 | PGS001834 (portability-PLR_362.29) |
PSS008856| African Ancestry| 3,723 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0144 [-0.0178, 0.0466] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009564 | PGS001834 (portability-PLR_362.29) |
PSS009304| European Ancestry| 19,413 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0175 [0.0034, 0.0315] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011186 | PGS002040 (portability-ldpred2_361) |
PSS009303| European Ancestry| 19,445 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0276 [0.0135, 0.0416] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011187 | PGS002040 (portability-ldpred2_361) |
PSS009077| European Ancestry| 4,055 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0184 [-0.0125, 0.0492] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011188 | PGS002040 (portability-ldpred2_361) |
PSS008631| European Ancestry| 6,514 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0125 [-0.0119, 0.0368] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011189 | PGS002040 (portability-ldpred2_361) |
PSS008405| Greater Middle Eastern Ancestry| 1,169 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): -0.0028 [-0.0607, 0.055] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011190 | PGS002040 (portability-ldpred2_361) |
PSS008185| South Asian Ancestry| 6,095 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0276 [0.0024, 0.0527] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011191 | PGS002040 (portability-ldpred2_361) |
PSS007969| East Asian Ancestry| 1,773 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0368 [-0.0101, 0.0835] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011192 | PGS002040 (portability-ldpred2_361) |
PSS007751| African Ancestry| 2,384 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0222 [-0.0181, 0.0625] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011193 | PGS002040 (portability-ldpred2_361) |
PSS008855| African Ancestry| 3,743 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Retinal detachments and defects | — | — | Partial Correlation (partial-r): 0.0024 [-0.0297, 0.0345] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011195 | PGS002041 (portability-ldpred2_362.29) |
PSS009078| European Ancestry| 4,043 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0248 [-0.0061, 0.0556] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011196 | PGS002041 (portability-ldpred2_362.29) |
PSS008632| European Ancestry| 6,470 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0179 [-0.0065, 0.0423] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011197 | PGS002041 (portability-ldpred2_362.29) |
PSS008406| Greater Middle Eastern Ancestry| 1,165 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): -0.0344 [-0.0921, 0.0236] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011198 | PGS002041 (portability-ldpred2_362.29) |
PSS008186| South Asian Ancestry| 6,037 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0372 [0.0119, 0.0624] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011199 | PGS002041 (portability-ldpred2_362.29) |
PSS007970| East Asian Ancestry| 1,775 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): -0.0312 [-0.0779, 0.0156] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011200 | PGS002041 (portability-ldpred2_362.29) |
PSS007752| African Ancestry| 2,374 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0038 [-0.0366, 0.0442] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011201 | PGS002041 (portability-ldpred2_362.29) |
PSS008856| African Ancestry| 3,723 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.018 [-0.0143, 0.0501] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM011194 | PGS002041 (portability-ldpred2_362.29) |
PSS009304| European Ancestry| 19,413 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Macular degeneration (senile) of retina NOS | — | — | Partial Correlation (partial-r): 0.0159 [0.0018, 0.0299] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM012920 | PGS002269 (PRS47_AMD) |
PSS009618| Multi-ancestry (including European)| 44,823 individuals |
PGP000299 | Zekavat SM et al. Ophthalmology (2022) |
Reported Trait: Rentinal layer thickness (photoreceptor inner and outer segments) | β: -0.21 [-0.23, -0.19] | — | — | Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry | — |
| PPM012921 | PGS002269 (PRS47_AMD) |
PSS009618| Multi-ancestry (including European)| 44,823 individuals |
PGP000299 | Zekavat SM et al. Ophthalmology (2022) |
Reported Trait: Rentinal layer thickness (retinal pigment epithelium and Bruch’s membrane complex) | β: -0.14 [-0.16, -0.12] | — | — | Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry | — |
| PPM012922 | PGS002269 (PRS47_AMD) |
PSS009618| Multi-ancestry (including European)| 44,823 individuals |
PGP000299 | Zekavat SM et al. Ophthalmology (2022) |
Reported Trait: Rentinal layer thickness (choroid-sclera interface) | β: -0.03 [-0.06, -0.01] | — | — | Age, age2 (to adjust for non-linear relationships with age), sex, smoking status, and the first ten principal components of genetic ancestry | — |
| PPM018563 | PGS003763 (PRS44_PD) |
PSS011026| European Ancestry| 314,998 individuals |
PGP000486 | Zheng Z et al. JAMA Neurol (2023) |
Reported Trait: Incident Parkinson Disease | — | — | Hazard ratio (HR, high vs low tertile): 1.72 [1.54, 1.93] | genotyping array and the first 10 principal components of ancestry | — |
| PPM018564 | PGS003763 (PRS44_PD) |
PSS011026| European Ancestry| 314,998 individuals |
PGP000486 | Zheng Z et al. JAMA Neurol (2023) |
Reported Trait: Incident Parkinson Disease with frailty | — | — | Hazard ratio (HR, high vs low tertile): 3.22 [2.35, 4.41] | age, sex, Townsend deprivation index, assessment centers, alcohol consumption, smoking status, BMI, the number of long-term morbidities, genotyping array, and the first 10 principal components of ancestry long-term morbidities, genotyping array, and the first 10 principal components of ancestry | — |
| PPM020767 | PGS004606 (AMD-IAMDGC-EUR) |
PSS011398| European Ancestry| 163,011 individuals |
PGP000582 | Gorman BR et al. Nat Genet (2024) |
Reported Trait: Age-related macular degeneration | OR: 1.76 [1.73, 1.78] | AUROC: 0.71 | — | age, sex, principal components 1-10 | — |
| PPM020768 | PGS004607 (AMD-MVP-AFR) |
PSS011398| European Ancestry| 163,011 individuals |
PGP000582 | Gorman BR et al. Nat Genet (2024) |
Reported Trait: Age-related macular degeneration | OR: 1.48 [1.34, 1.63] | AUROC: 0.65 | — | age, sex, principal components 1-10 | — |
| PPM021702 | PGS004924 (PRS90_PD) |
PSS011750| Multi-ancestry (including European)| 3,482 individuals |
PGP000657 | Cao Z et al. Parkinsonism Relat Disord (2023) |
Reported Trait: Parkinson's disease | — | — | Odds ratio (OR, top vs bottom PGS quartile): 3.79 [1.64, 8.73] | Age, race, 5 PCs, self-reported sense of smell, education, smoking status, self-reported health status, and PM2.5 and NO2 in 2006 | — |
| PPM021703 | PGS004924 (PRS90_PD) |
PSS011751| Multi-ancestry (including European)| 3,482 individuals |
PGP000657 | Cao Z et al. Parkinsonism Relat Disord (2023) |
Reported Trait: Olfactory impairment (B-SIT score ≤6) | — | — | Odds ratio (OR, top vs bottom PGS quartile): 1.42 [1.04, 1.92] | Age, race, 5 PCs, self-reported sense of smell, education, smoking status, self-reported health status, and PM2.5 and NO2 in 2006 | — |
| PPM021759 | PGS004952 (PRS52_AMD) |
PSS011783| European Ancestry| 1,575 individuals |
PGP000673 | Herold JM et al. Invest Ophthalmol Vis Sci (2023) |
Reported Trait: Early age-related macular degeneration (Clinical Classification) | OR: 1.13 [1.09, 1.16] | AUROC: 64.2 | — | Age, sex, survey membership, 10 PCs | — |
| PPM021760 | PGS004952 (PRS52_AMD) |
PSS011784| European Ancestry| 1,511 individuals |
PGP000673 | Herold JM et al. Invest Ophthalmol Vis Sci (2023) |
Reported Trait: Intermediate age-related macular degeneration (Clinical Classification) | OR: 1.25 [1.2, 1.29] | AUROC: 73.3 | — | Age, sex, survey membership, 10 PCs | — |
| PPM021761 | PGS004952 (PRS52_AMD) |
PSS011785| European Ancestry| 1,232 individuals |
PGP000673 | Herold JM et al. Invest Ophthalmol Vis Sci (2023) |
Reported Trait: Late age-related macular degeneration (Clinical Classification) | OR: 1.41 [1.32, 1.5] | AUROC: 84.2 | — | Age, sex, survey membership, 10 PCs | — |
| PPM021762 | PGS004952 (PRS52_AMD) |
PSS011786| European Ancestry| 1,780 individuals |
PGP000673 | Herold JM et al. Invest Ophthalmol Vis Sci (2023) |
Reported Trait: Mild early age-related macular degeneration (3CACSS) | OR: 1.08 [1.04, 1.13] | AUROC: 59.9 | — | Age, sex, survey membership, 10 PCs | — |
| PPM021763 | PGS004952 (PRS52_AMD) |
PSS011787| European Ancestry| 1,696 individuals |
PGP000673 | Herold JM et al. Invest Ophthalmol Vis Sci (2023) |
Reported Trait: Moderate early age-related macular degeneration (3CACSS) | OR: 1.29 [1.22, 1.37] | AUROC: 76.3 | — | Age, sex, survey membership, 10 PCs | — |
| PPM021764 | PGS004952 (PRS52_AMD) |
PSS011788| European Ancestry| 1,699 individuals |
PGP000673 | Herold JM et al. Invest Ophthalmol Vis Sci (2023) |
Reported Trait: Severe early age-related macular degeneration (3CACSS) | OR: 1.38 [1.29, 1.47] | AUROC: 80.95 | — | Age, sex, survey membership, 10 PCs | — |
| PPM030743 | PGS012584 (PRS44_PD) |
PSS012275| Multi-ancestry (including European)| 192,340 individuals |
PGP000818 | Geng T et al. NPJ Parkinsons Dis (2024) |
Reported Trait: Parkinson's disease | HR: 1.07 [1.05, 1.08] | — | — | age at recruitment (continuous, years), and sex (men, women) | — |
| PPM037188 | PGS019006 (TPMI_361_Lassosum2) |
PSS012909| East Asian Ancestry| 17,638 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Retinal detachments and defects | — | AUROC: 0.64518 | R²: 0.01185 | sex, age, array, PCs 1-10 | — |
| PPM037189 | PGS019007 (TPMI_361_LDpred2) |
PSS012908| East Asian Ancestry| 17,638 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Retinal detachments and defects | — | AUROC: 0.64405 | R²: 0.01162 | sex, age, array, PCs 1-10 | — |
| PPM037190 | PGS019008 (TPMI_361_MegaPRS) |
PSS012910| East Asian Ancestry| 17,638 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Retinal detachments and defects | — | AUROC: 0.64402 | R²: 0.01161 | sex, age, array, PCs 1-10 | — |
| PPM037191 | PGS019009 (TPMI_361_PRS-CS) |
PSS012911| East Asian Ancestry| 17,638 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Retinal detachments and defects | — | AUROC: 0.64418 | R²: 0.01161 | sex, age, array, PCs 1-10 | — |
| PPM037192 | PGS019010 (TPMI_361_SBayesR) |
PSS012912| East Asian Ancestry| 17,638 individuals |
PGP000835 | Chen HH et al. Nature (2025) |
Reported Trait: Retinal detachments and defects | — | AUROC: 0.64456 | R²: 0.01164 | sex, age, array, PCs 1-10 | — |
|
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|---|
| PSS007751 | — | — | 2,384 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |
| PSS007752 | — | — | 2,374 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |
| PSS004418 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS000358 | UPDRS motor severity was estimated as a mean value acrosseach patient’s recordings, relative to the rest of the data | Mean = 5946.0 days Sd = 2299.0 days Range = [1574.0, 13992.0] days |
[ ,
66.0 % Male samples |
Range = [35.0, 85.0] years | European | — | NR | Testing dataset genotyped as part of a larger study of a total of 1380 patients with idiopathic PD and 1295 control subjects by 5 collaborating groups in Norway and Sweden. (https://www.sciencedirect.com/science/article/abs/pii/S0197458012005301?showall%3Dtrue%26via%3Dihub) |
| PSS004419 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004420 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004421 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004422 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
| PSS003601 | Cases were individuals with Parkinson's disease (PD). PD cases were identified from three different sources: (1) participants were asked in a follow-up interview if they had ever been informed by a physician to have PD and, if yes, the age at which the diagnosis was ascertained, (2) all diagnoses containing the International Classification of Diseases, Ninth Revision code 332 (PD) from 1990 to 2018 in public and private hospitals were identified via a computer-assisted record linkage analysis of the cohort database with the nationwide hospital discharge database, (3) record linkage of the cohort database with three public hospital–based PD registries in Singapore through July 31, 2018, was carried out via database linkage. All identified cases were reviewed to confirm that the diagnosis was primary PD according to the criteria defined by the Advisory Council of the USA National Institute of Neurological Disorders and Stroke. | — | [ ,
45.32 % Male samples |
— | Asian unspecified | — | SCHS | — |
| PSS000952 | Cases are individuals with sporadic Parkinson's disease. | — | [
|
— | European, NR | European, Not reported | PPMI | — |
| PSS004682 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004683 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004684 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004685 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004686 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
| PSS009303 | — | — | 19,445 individuals | — | European | UK (+ Ireland) | UKB | — |
| PSS008405 | — | — | 1,169 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) | Iran (Middle East) | UKB | — |
| PSS008406 | — | — | 1,165 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) | Iran (Middle East) | UKB | — |
| PSS009304 | — | — | 19,413 individuals | — | European | UK (+ Ireland) | UKB | — |
| PSS000088 | Parkinson Disease symptom progression was assessed during 1 to 3 follow-up examinations by a movement disorder team (June 1, 2007, to August 31, 2013; mean [SD] time from disease onset, 7.3 [2.8] years) using the following methods: - Cognitive decline was determined with the Mini-Mental State Examination (MMSE; range, 0-30, with lower scores indicating worse cognitive function). Cognitive decline was defined as a 4-point decrease from baseline MMSE score and time to event as the time from the baseline to follow-up examinations in which a 4-point decrease was first measured - Motor decline was defined as a 20-point increase in Unified Parkinson’s Disease Rating Scale part III (UPDRS-III) score, and time to event as the time from the baseline to follow-up examinations in which a 20-point increase was first measured. - Motor decline was also measured by assessing conversion to stage 3 or higher of the Hoehn & Yahr (H&Y) scale. Time to conversion to H&Y stage 3 was defined as the time from the baseline to first follow-up examinations in which the patient scored at least stage 3. | Mean = 5.3 years Sd = 2.1 years |
[ ,
56.14 % Male samples |
Mean = 69.1 years Sd = 10.4 years |
European | — | PEG | Patients with idiopathic PD diagnosed less than 3 years previously were recruited from June 1, 2001, through November 31, 2007. Patients were confirmed as having clinically probable or possible Parkinson Disease by a team of movement disorder specialists |
| PSS010943 | — | — | [
|
— | Not reported | — | NR | Luxembourg Parkinson's Study |
| PSS012275 | — | — | 186,624 individuals, 46.3 % Male samples |
Mean = 64.2 years Sd = 2.9 years |
European | — | UKB | — |
| PSS012275 | — | — | 5,716 individuals, 46.3 % Male samples |
Mean = 64.2 years Sd = 2.9 years |
Not reported | — | UKB | — |
| PSS011783 | — | — | [
|
— | European | — | AugUR | — |
| PSS011784 | — | — | [
|
— | European | — | AugUR | — |
| PSS011785 | — | — | [
|
— | European | — | AugUR | — |
| PSS011786 | — | — | [
|
— | European | — | AugUR | — |
| PSS011787 | — | — | [
|
— | European | — | AugUR | — |
| PSS011398 | ICD-9-CM codes 362.51 or 362.52; ICD-10-CM codes H35.31 or H35.32 | — | [ ,
97.0 % Male samples |
— | European | — | MVP | — |
| PSS011788 | — | — | [
|
— | European | — | AugUR | — |
| PSS009077 | — | — | 4,055 individuals | — | European | Poland (NE Europe) | UKB | — |
| PSS009078 | — | — | 4,043 individuals | — | European | Poland (NE Europe) | UKB | — |
| PSS009933 | — | — | 90 individuals, 71.0 % Male samples |
Mean = 36.0 years | South Asian (Indian) |
— | NR | — |
| PSS008185 | — | — | 6,095 individuals | — | South Asian | India (South Asia) | UKB | — |
| PSS008186 | — | — | 6,037 individuals | — | South Asian | India (South Asia) | UKB | — |
| PSS007662 | Cases were individuals with Parkinson's disease (PD). All cases were recruited in the study after a clinical diagnosis of PD. | — | [ ,
51.36 % Male samples |
— | European | — | NR | — |
| PSS011750 | — | — | [ ,
0.0 % Male samples |
— | European, African unspecified, Not reported | — | SISTER | — |
| PSS011751 | — | — | [ ,
0.0 % Male samples |
— | European, African unspecified, Not reported | — | SISTER | — |
| PSS000225 | — | — | [ ,
55.22 % Male samples |
— | European | — | PPMI | Both the PPMI and WUSTL datasets are available by request from the PPMI website (www.ppmi-info.org) |
| PSS000226 | — | — | [ ,
58.27 % Male samples |
— | European | — | WUSTL | Both the PPMI and WUSTL datasets are available by request from the PPMI website (www.ppmi-info.org) |
| PSS011016 | — | — | [
|
— | Other (Ashkenazi Jewish) |
— | NR | — |
| PSS011016 | — | — | [
|
— | European | — | NR | — |
| PSS011017 | — | — | [
|
— | Other (Ashkenazi Jewish) |
— | NR | — |
| PSS011017 | — | — | [
|
— | European | — | NR | — |
| PSS012105 | — | — | 3,453 individuals, 64.7 % Male samples |
Mean = 65.6 years Sd = 9.6 years |
Not reported | — | OD, PPMI, TP | — |
| PSS008855 | — | — | 3,743 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
| PSS008856 | — | — | 3,723 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
| PSS007969 | — | — | 1,773 individuals | — | East Asian | China (East Asia) | UKB | — |
| PSS007970 | — | — | 1,775 individuals | — | East Asian | China (East Asia) | UKB | — |
| PSS001174 | Cases were individuals with Parkinson's disease (PD). Cases were defined using the standard UK Brain Bank criteria with a modification to allow the inclusion of cases that had a family history of PD. | — | [ ,
52.75 % Male samples |
— | European, NR | — | HBS | Sample overlap between this dataset and the dataset used to source SNPs for PRS90_PD. |
| PSS000997 | All individuals had Parkinsons' disease. Dementia was defined by the following criteria for each cohort. DeNoPa: Dementia was defined using operationalized level 1 MDS dementia criteria. These criteria required 1, an MMSE< 26; 2, cognitive deficits severe enough to impact daily living (MDS-UPDRS sub-score I item 1, Cognitive impairment score ≥ 2 indicating ‘Dementia has impact on active daily living scale’); 3, impairment in at least two cognitive domains operationalized as impairment in two of the following four tasks: ≤ 3 of 5 points in the MMSE Seven backward test (attention); abnormal clock drawing test (executive dysfunction); subscore = 0 in the MMSE Pentagons (visuo-constructive ability); and ≤ 2 of 3 points in the 3-Word Recall of the MMSE (memory performance). A Geriatric Depression Scale-15 (GDS-15) score <10 was used to indicate the absence of severe depression. EPIPARK: Dementia was defined using operationalized level 1 MDS dementia criteria. These criteria required 1, a Montreal Cognitive Assessment (MoCA) score < 2127; 2, cognitive deficits severe enough to impact daily living (UPDRS sub-score I item 1, Intellectual impairment score ≥ 2 indicating ‘Dementia has impact on active daily living scale’); 3, impairment in at least two cognitive domains operationalized as impairment in two of the following four tasks: ≤ 2 of 3 points in the MoCA serial seven subtraction test; 0 points in the MoCA language fluency test item (language); ≤ 4 of 5 points in the word recall of the MoCA (delayed recall); ≤ 4 of 5 on the MoCA visuospatial/executive test. A Beck Depression Inventory (BDI) score ≤30 was used to indicate the absence of severe depression. HBS: Dementia was defined using operationalized level 1 MDS dementia criteria. These criteria required 1, an MMSE < 26; 2, cognitive deficits severe enough to impact daily living (UPDRS sub-score I item 1, Intellectual impairment score ≥ 2 indicating ‘Dementia has impact on active daily living scale’); 3, impairment in at least two cognitive domains operationalized as impairment in two of the following four tasks: ≤ 3 of 5 points in the MMSE Seven backward test (attention); abnormal clock drawing test (executive dysfunction); subscore = 0 in the MMSE Pentagons (visuo-constructive ability); and ≤ 2 of 3 points in the 3-Word Recall of the MMSE (memory performance). A Geriatric Depression Scale-15 (GDS-15) score <10 was used to indicate the absence of severe depression. | — | 404 individuals | — | European, NR | — | DeNoPa, EPIPARK, HBS | — |
| PSS011026 | — | — | 314,998 individuals, 49.1 % Male samples |
Mean = 56.1 years | European | — | UKB | — |
| PSS009572 | — | — | [ ,
54.0 % Male samples |
— | European | — | DeNoPa, EPIPARK, KIEL, Other | — |
| PSS009618 | AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment | — | 44,253 individuals | — | European | — | UKB | — |
| PSS009618 | AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment | — | 40 individuals | — | South Asian | — | UKB | — |
| PSS009618 | AMD phenotype was defined using a combination of main and secondary ICD-10 (Field IDs 41202, 41204: Code H35.3) and ICD-9 (Field IDs 41203, 41205: Code 3625) diagnoses for macular degeneration, self-reported macular degeneration (Field ID 20002: Code 1528), and macular degeneration from the available general practice data. Prevalent AMD cases were defined as individuals who had AMD first diagnosed at or before enrollment. Incident AMD cases were defined as individuals who had AMD first diagnosed after enrollment | — | 530 individuals | — | Not reported | — | UKB | — |
| PSS012908 | 361,H33.0, H33.1, H33.2, H33.3, H33.4, H33.8 | — | [ ,
45.97 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012909 | 361,H33.0, H33.1, H33.2, H33.3, H33.4, H33.8 | — | [ ,
45.97 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012910 | 361,H33.0, H33.1, H33.2, H33.3, H33.4, H33.8 | — | [ ,
45.97 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS012911 | 361,H33.0, H33.1, H33.2, H33.3, H33.4, H33.8 | — | [ ,
45.97 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |
| PSS008631 | — | — | 6,514 individuals | — | European | Italy (South Europe) | UKB | — |
| PSS008632 | — | — | 6,470 individuals | — | European | Italy (South Europe) | UKB | — |
| PSS012912 | 361,H33.0, H33.1, H33.2, H33.3, H33.4, H33.8 | — | [ ,
45.97 % Male samples |
— | East Asian (Han Chinese) |
— | TPMI | — |