Trait: connective tissue disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_1001986
Description A disease involving the connective tissue.
Trait category
Other disease
Synonyms 14 synonyms
  • Connective Tissue Disorder
  • Connective Tissue Disorders
  • connective tissue disease
  • connective tissue disease or disorder
  • connective tissue diseases
  • connective tissue disorder
  • connective tissue disorders
  • disease of connective tissue
  • disease of connective tissues
  • disease or disorder of connective tissue
  • disease, connective tissue
  • disorder of connective tissue
  • primary disorder of connective tissue
  • tissue disease, connective
Mapped terms 9 mapped terms
  • DOID:65
  • ICD10:M35
  • ICD10:M95
  • MESH:D003240
  • MeSH:D003240
  • NCIT:C26729
  • NCIt:C26729
  • SCTID:105969002
  • UMLS:C0009782
Child trait(s) 21 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "connective tissue disease" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000114
(GRS-JIA-20)
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Juvenile Idiopathic Arthritis juvenile idiopathic arthritis 26
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000114/ScoringFiles/PGS000114.txt.gz
PGS000194
(G-PROB_Rapos)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Rheumatoid Arthritis (CCP-positive) ACPA-positive rheumatoid arthritis 250
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000194/ScoringFiles/PGS000194.txt.gz
PGS000195
(G-PROB_Raneg)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Rheumatoid Arthritis (CCP-negative) ACPA-negative rheumatoid arthritis 250
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000195/ScoringFiles/PGS000195.txt.gz
PGS000196
(G-PROB_SLE)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Systemic lupus eythematosus systemic lupus erythematosus 250
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000196/ScoringFiles/PGS000196.txt.gz
PGS000197
(G-PROB_SpA)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Spondyloarthroparthy spondyloarthropathy 250
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000197/ScoringFiles/PGS000197.txt.gz
PGS000198
(G-PROB_PsA)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Psoriatic arthritis psoriatic arthritis 250
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000198/ScoringFiles/PGS000198.txt.gz
PGS000199
(G-PROB_Gout)
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Gout gout 250
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000199/ScoringFiles/PGS000199.txt.gz
PGS000324
(GRS-JIA-ERA-20)
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Enthesitis-related Juvenile Idiophatic Arthritis enthesitis-related juvenile idiopathic arthritis 138
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000324/ScoringFiles/PGS000324.txt.gz
PGS000325
(GRS-JIA-Oli-20)
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Oligoarthritis Juvenile Idiophatic Arthritis oligoarticular juvenile idiopathic arthritis 21
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000325/ScoringFiles/PGS000325.txt.gz
PGS000326
(GRS-JIA-RFN-20)
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Rheumatoid-factor-negative Polyarthritis (Juvenile Idiophatic Arthritis) polyarticular juvenile idiopathic arthritis, rheumatoid factor negative 12
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000326/ScoringFiles/PGS000326.txt.gz
PGS000328
(GRS_SLE)
PGP000099 |
Reid S et al. Ann Rheum Dis (2019)
Systemic lupus erythematosus systemic lupus erythematosus 57
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000328/ScoringFiles/PGS000328.txt.gz
PGS000341
(GRS33_SSc)
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Systemic sclerosis systemic scleroderma 33
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000341/ScoringFiles/PGS000341.txt.gz
PGS000342
(wGRS_PsA)
PGP000111 |
Smith MP et al. J Psoriasis Psoriatic Arthritis (2020)
Psoriatic arthritis psoriatic arthritis 11
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000342/ScoringFiles/PGS000342.txt.gz
PGS000343
(wGRS_PsA_HLA)
PGP000111 |
Smith MP et al. J Psoriasis Psoriatic Arthritis (2020)
Psoriatic arthritis psoriatic arthritis 5
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000343/ScoringFiles/PGS000343.txt.gz
PGS000711
(HC328)
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Gout gout 183,332
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000711/ScoringFiles/PGS000711.txt.gz - Check Terms/Licenses
PGS000754
(PRS_SLE)
PGP000160 |
Wang YF et al. Nat Commun (2021)
Systemic lupus erythrmatosus systemic lupus erythematosus 293,684
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000754/ScoringFiles/PGS000754.txt.gz
PGS000771
(GRS95_SLEmain)
PGP000178 |
Chen L et al. Hum Mol Genet (2020)
Systemic lupus erythematosus systemic lupus erythematosus 95
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000771/ScoringFiles/PGS000771.txt.gz
PGS000772
(GRS95_SLEgen)
PGP000178 |
Chen L et al. Hum Mol Genet (2020)
Systemic lupus erythematosus systemic lupus erythematosus 95
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000772/ScoringFiles/PGS000772.txt.gz
PGS000803
(wGRS41_SLE)
PGP000192 |
Kawai VK et al. Lupus (2021)
Systemic lupus erythematosus systemic lupus erythematosus 41
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000803/ScoringFiles/PGS000803.txt.gz
PGS000922
(GBE_HC170)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Sarcoidosis Sarcoidosis 12
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000922/ScoringFiles/PGS000922.txt.gz
PGS000923
(GBE_HC639)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Sarcoidosis (time-to-event) Sarcoidosis 22
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000923/ScoringFiles/PGS000923.txt.gz
PGS000959
(GBE_HC136)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Connective tissue disorder connective tissue disease 16
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000959/ScoringFiles/PGS000959.txt.gz
PGS000960
(GBE_HC1236)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Other systemic involvement of connective tissue (time-to-event) connective tissue disease 79
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000960/ScoringFiles/PGS000960.txt.gz
PGS000967
(GBE_HC1221)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Coxarthrosis [arthrosis of hip] (time-to-event) osteoarthritis, hip 634
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000967/ScoringFiles/PGS000967.txt.gz
PGS001031
(GBE_HC1261)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Fibroblastic disorders (time-to-event) fibroblastic disorder 252
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001031/ScoringFiles/PGS001031.txt.gz
PGS001051
(GBE_HC96)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Polymyalgia rheumatica polymyalgia rheumatica 69
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001051/ScoringFiles/PGS001051.txt.gz
PGS001110
(GBE_HC1209)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reactive arthropathies (time-to-event) reactive arthritis 6
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001110/ScoringFiles/PGS001110.txt.gz
PGS001135
(GBE_HC78)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Arthritis (nos) arthritis 1,028
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001135/ScoringFiles/PGS001135.txt.gz
PGS001192
(GBE_HC1222)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Gonarthrosis [arthrosis of knee] (time-to-event) osteoarthritis, knee 4,525
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001192/ScoringFiles/PGS001192.txt.gz
PGS001248
(GBE_HC328)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Gout gout 880
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001248/ScoringFiles/PGS001248.txt.gz
PGS001249
(GBE_HC1215)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Gout (time-to-event) gout 1,796
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001249/ScoringFiles/PGS001249.txt.gz
PGS001267
(GBE_HC422)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Ankylosing spondylitis ankylosing spondylitis 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001267/ScoringFiles/PGS001267.txt.gz
PGS001268
(GBE_HC1242)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Ankylosing spondylitis (time-to-event) ankylosing spondylitis 10
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001268/ScoringFiles/PGS001268.txt.gz
PGS001287
(GBE_HC91)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Psoriatic arthropathy psoriatic arthritis 36
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001287/ScoringFiles/PGS001287.txt.gz
PGS001290
(GBE_HC376)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Osteoarthritis osteoarthritis 579
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001290/ScoringFiles/PGS001290.txt.gz
PGS001309
(GBE_HC1212)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Other rheumatoid arthritis (time-to-event) rheumatoid arthritis 323
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001309/ScoringFiles/PGS001309.txt.gz
PGS001310
(GBE_HC430)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Rheumatoid arthritis rheumatoid arthritis 175
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001310/ScoringFiles/PGS001310.txt.gz
PGS001311
(GBE_HC1211)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Seropositive rheumatoid arthritis (time-to-event) rheumatoid arthritis 3
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001311/ScoringFiles/PGS001311.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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
PPM000578 PGS000195
(G-PROB_Raneg)
PSS000315|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.63, 0.76] G-PROB_Rapos (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000577 PGS000194
(G-PROB_Rapos)
PSS000315|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.63, 0.76] RAN_Gprob (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000582 PGS000199
(G-PROB_Gout)
PSS000311|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Gout diagnosis in patient with arthritis AUROC: 0.85 [0.8, 0.91] (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000581 PGS000198
(G-PROB_PsA)
PSS000313|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Psoriatic arthritis diagnosis in patient with arthritis AUROC: 0.62 [0.48, 0.8] (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000580 PGS000197
(G-PROB_SpA)
PSS000317|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Spondyloarthropathy diagnosis in patient with arthritis AUROC: 0.56 [0.33, 0.84] (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000579 PGS000196
(G-PROB_SLE)
PSS000319|
European Ancestry|
243 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Systemic lupus erythematosus diagnosis in patient with arthritis AUROC: 0.61 [0.27, 0.86] (Setting III: Selecting patients presenting with inflammatory arthritis at their first visit)
PPM000572 PGS000195
(G-PROB_Raneg)
PSS000314|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.75 [0.68, 0.81] G-PROB_Rapos (Setting II: Assigning patient diagnoses based on medical records)
PPM000571 PGS000194
(G-PROB_Rapos)
PSS000314|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.75 [0.68, 0.81] G-PROB_Raneg (Setting II: Assigning patient diagnoses based on medical records)
PPM000878 PGS000326
(GRS-JIA-RFN-20)
PSS000434|
European Ancestry|
653 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Rheumatoid-factor-negative Polyarthritis OR: 1.71 [1.42, 2.07] AUROC: 0.74 [0.68, 0.8] sex, genetic PCs 1-10
PPM000872 PGS000326
(GRS-JIA-RFN-20)
PSS000434|
European Ancestry|
653 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Rheumatoid-factor-negative Polyarthritis OR: 1.69 [1.42, 2.02] AUROC: 0.66 [0.59, 0.73]
PPM000882 PGS000328
(GRS_SLE)
PSS000438|
European Ancestry|
15,383 individuals
PGP000099 |
Reid S et al. Ann Rheum Dis (2019)
Reported Trait: Systemic lupus erythematosus AUROC: 0.71 Odds Ratio (OR; highest vs. lowest quartile): 7.48 [6.73, 8.32]
PPM000880 PGS000328
(GRS_SLE)
PSS000436|
European Ancestry|
3,803 individuals
PGP000099 |
Reid S et al. Ann Rheum Dis (2019)
Reported Trait: Systemic lupus erythematosus AUROC: 0.78 Odds Ratio (OR; highest vs. lowest quartile): 12.32 [9.53, 15.71]
PPM000262 PGS000114
(GRS-JIA-20)
PSS000179|
European Ancestry|
3,513 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Juvenile Idiopathic Arthritis OR: 1.838 [1.686, 2.007] AUROC: 0.735 [0.712, 0.758] sex, genetic PCs 1-10
PPM000263 PGS000114
(GRS-JIA-20)
PSS000180|
European Ancestry|
940 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Juvenile Idiopathic Arthritis OR: 2.085 [1.773, 2.471] AUROC: 0.738 [0.705, 0.77] sex, genetic PCs 1-10
PPM000260 PGS000114
(GRS-JIA-20)
PSS000179|
European Ancestry|
3,513 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Juvenile Idiopathic Arthritis OR: 1.831 [1.685, 1.991] AUROC: 0.657 [0.631, 0.683]
PPM000261 PGS000114
(GRS-JIA-20)
PSS000180|
European Ancestry|
940 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Juvenile Idiopathic Arthritis OR: 2.008 [1.731, 2.345] AUROC: 0.671 [0.635, 0.706]
PPM000970 PGS000341
(GRS33_SSc)
PSS000489|
European Ancestry|
339 individuals
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Reported Trait: Systemic sclerosis AUROC: 0.787 [0.73, 0.84] Systemic sclerosis status, age and immune cell counts of: memory B cells, resting NK cells, M0 macrophages and activated dendritic cells *Some overlap with score development and testing samples
PPM000969 PGS000341
(GRS33_SSc)
PSS000489|
European Ancestry|
339 individuals
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Reported Trait: Systemic sclerosis AUROC: 0.722 Systemic sclerosis status and immune cell counts of: memory B cells, resting NK cells, M0 macrophages and activated dendritic cells *Some overlap with score development and testing samples
PPM000968 PGS000341
(GRS33_SSc)
PSS000489|
European Ancestry|
339 individuals
PGP000110 |
Bossini-Castillo L et al. Ann Rheum Dis (2020)
Reported Trait: Systemic sclerosis AUROC: 0.644 *Some overlap with score development and testing samples
PPM000972 PGS000343
(wGRS_PsA_HLA)
PSS000490|
Ancestry Not Reported|
543 individuals
PGP000111 |
Smith MP et al. J Psoriasis Psoriatic Arthritis (2020)
Reported Trait: Psoriatic arthritis AUROC: 0.569 [0.513, 0.625]
PPM000971 PGS000342
(wGRS_PsA)
PSS000490|
Ancestry Not Reported|
543 individuals
PGP000111 |
Smith MP et al. J Psoriasis Psoriatic Arthritis (2020)
Reported Trait: Psoriatic arthritis AUROC: 0.562 [0.506, 0.618]
PPM000874 PGS000324
(GRS-JIA-ERA-20)
PSS000432|
European Ancestry|
594 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Enthesitis-related Arthritis OR: 3.09 [2.07, 5.04] AUROC: 0.93 [0.86, 0.99] sex, genetic PCs 1-10
PPM000875 PGS000325
(GRS-JIA-Oli-20)
PSS000430|
European Ancestry|
3,157 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 1.93 [1.75, 2.13] AUROC: 0.8 [0.77, 0.84] sex, genetic PCs 1-10
PPM000876 PGS000325
(GRS-JIA-Oli-20)
PSS000433|
European Ancestry|
737 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 2.19 [1.81, 2.71] AUROC: 0.79 [0.76, 0.83] sex, genetic PCs 1-10
PPM000877 PGS000326
(GRS-JIA-RFN-20)
PSS000431|
European Ancestry|
3,089 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Rheumatoid-factor-negative Polyarthritis OR: 1.51 [1.35, 1.68] AUROC: 0.76 [0.72, 0.8] sex, genetic PCs 1-10
PPM000873 PGS000324
(GRS-JIA-ERA-20)
PSS000429|
European Ancestry|
3,020 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Enthesitis-related Arthritis OR: 1.86 [1.61, 2.14] AUROC: 0.75 [0.68, 0.82] sex, genetic PCs 1-10
PPM000867 PGS000324
(GRS-JIA-ERA-20)
PSS000429|
European Ancestry|
3,020 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Enthesitis-related Arthritis OR: 1.84 [1.6, 2.17] AUROC: 0.7 [0.63, 0.77]
PPM000868 PGS000324
(GRS-JIA-ERA-20)
PSS000432|
European Ancestry|
594 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Enthesitis-related Arthritis OR: 2.99 [2.11, 4.54] AUROC: 0.84 [0.71, 0.97]
PPM000869 PGS000325
(GRS-JIA-Oli-20)
PSS000430|
European Ancestry|
3,157 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 1.93 [1.76, 2.11] AUROC: 0.77 [0.73, 0.8]
PPM000870 PGS000325
(GRS-JIA-Oli-20)
PSS000433|
European Ancestry|
737 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Oligoarthritis Juvenile Idiophatic Arthritis OR: 2.24 [1.88, 2.71] AUROC: 0.74 [0.7, 0.79]
PPM000883 PGS000328
(GRS_SLE)
PSS000436|
European Ancestry|
3,803 individuals
PGP000099 |
Reid S et al. Ann Rheum Dis (2019)
Reported Trait: Systemic Lupus damage score (SDI) OR: 1.13 [1.03, 1.24] Odds Ratio (OR; highest vs. lowest quartile): 1.47 [1.06, 2.04]
PPM000881 PGS000328
(GRS_SLE)
PSS000437|
European Ancestry|
1,001 individuals
PGP000099 |
Reid S et al. Ann Rheum Dis (2019)
Reported Trait: Systemic lupus erythematosus (onset before age 20) AUROC: 0.83
PPM000885 PGS000328
(GRS_SLE)
PSS000437|
European Ancestry|
1,001 individuals
PGP000099 |
Reid S et al. Ann Rheum Dis (2019)
Reported Trait: Nephritis in systemic lupus erythematosus patients Hazard Ratio (HR; highest vs. lowest quartile): 2.53 [1.72, 3.71]
PPM000884 PGS000328
(GRS_SLE)
PSS000436|
European Ancestry|
3,803 individuals
PGP000099 |
Reid S et al. Ann Rheum Dis (2019)
Reported Trait: Systemic lupus erythematosus (age-at-onset) Hazard Ratio (HR; highest vs. lowest quartile): 1.47 [1.22, 1.75]
PPM000871 PGS000326
(GRS-JIA-RFN-20)
PSS000431|
European Ancestry|
3,089 individuals
PGP000052 |
Cánovas R et al. Ann Rheum Dis (2020)
Reported Trait: Rheumatoid-factor-negative Polyarthritis OR: 1.48 [1.33, 1.64] AUROC: 0.64 [0.59, 0.69]
PPM001603 PGS000711
(HC328)
PSS000815|
European Ancestry|
87,413 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Gout AUROC: 0.7107 Age, sex, PCs(1-10)
PPM001616 PGS000711
(HC328)
PSS000816|
European Ancestry|
135,300 individuals
PGP000128 |
Sinnott-Armstrong N et al. Nat Genet (2021)
Reported Trait: Gout HR: 1.58 [1.51, 1.65] C-index: 0.673 Age as time scale, sex, batch, PCs(1-10)
PPM002100 PGS000803
(wGRS41_SLE)
PSS001038|
European Ancestry|
47,904 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Lupus (localised and systemic) OR: 1.73 [1.62, 1.85]
β: 0.546 (0.034)
PCs(1-5), median age in the electronic health record, sex
PPM002101 PGS000803
(wGRS41_SLE)
PSS001043|
European Ancestry|
18,722 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Lupus (localised and systemic) OR: 1.82 [1.66, 2.0] PCs(1-5), median age in the electronic health record, sex
PPM002102 PGS000803
(wGRS41_SLE)
PSS001035|
European Ancestry|
47,917 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Systemic lupus erythematosus OR: 1.71 [1.6, 1.82]
β: 0.534 (0.034)
PCs(1-5), median age in the electronic health record, sex
PPM002103 PGS000803
(wGRS41_SLE)
PSS001040|
European Ancestry|
18,698 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Systemic lupus erythematosus OR: 1.86 [1.69, 2.04] PCs(1-5), median age in the electronic health record, sex
PPM002104 PGS000803
(wGRS41_SLE)
PSS001037|
European Ancestry|
50,429 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Erythematous conditions OR: 1.28 [1.22, 1.34]
β: 0.246 (0.024)
PCs(1-5), median age in the electronic health record, sex
PPM002105 PGS000803
(wGRS41_SLE)
PSS001042|
European Ancestry|
21,474 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Erythematous conditions OR: 1.08 [1.04, 1.13] PCs(1-5), median age in the electronic health record, sex
PPM002106 PGS000803
(wGRS41_SLE)
PSS001034|
European Ancestry|
47,321 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Cutaneous lupus erythematosus OR: 1.79 [1.54, 2.08]
β: 0.582 (0.078)
PCs(1-5), median age in the electronic health record, sex
PPM002107 PGS000803
(wGRS41_SLE)
PSS001039|
European Ancestry|
18,422 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Cutaneous lupus erythematosus OR: 2.02 [1.71, 2.4] PCs(1-5), median age in the electronic health record, sex
PPM002108 PGS000803
(wGRS41_SLE)
PSS001036|
European Ancestry|
40,528 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Type 1 diabetes OR: 1.11 [1.06, 1.17]
β: 0.108 (0.024)
PCs(1-5), median age in the electronic health record, sex
PPM002109 PGS000803
(wGRS41_SLE)
PSS001041|
European Ancestry|
19,191 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Type 1 diabetes OR: 1.11 [1.05, 1.18] PCs(1-5), median age in the electronic health record, sex
PPM002110 PGS000803
(wGRS41_SLE)
PSS001036|
European Ancestry|
40,528 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Type 1 diabetes with renal manifestations OR: 1.41 [1.26, 1.59]
β: 0.346 (0.06)
PCs(1-5), median age in the electronic health record, sex
PPM002111 PGS000803
(wGRS41_SLE)
PSS001041|
European Ancestry|
19,191 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Type 1 diabetes with renal manifestations OR: 1.38 [1.19, 1.6] PCs(1-5), median age in the electronic health record, sex
PPM002112 PGS000803
(wGRS41_SLE)
PSS001036|
European Ancestry|
40,528 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Type 1 diabetes with opthalmic manifestations OR: 1.32 [1.16, 1.5]
β: 0.275 (0.065)
PCs(1-5), median age in the electronic health record, sex
PPM002113 PGS000803
(wGRS41_SLE)
PSS001041|
European Ancestry|
19,191 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Type 1 diabetes with opthalmic manifestations OR: 1.34 [1.18, 1.52] PCs(1-5), median age in the electronic health record, sex
PPM002114 PGS000803
(wGRS41_SLE)
PSS001036|
European Ancestry|
40,528 individuals
PGP000192 |
Kawai VK et al. Lupus (2021)
Reported Trait: Type 1 diabetes with neurological manifestations OR: 1.16 [1.06, 1.28]
β: 0.151 (0.047)
PCs(1-5), median age in the electronic health record, sex
PPM000566 PGS000195
(G-PROB_Raneg)
PSS000322|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.65, 0.72] G-PROB_Rapos (Setting I: Assigning patient diagnoses based on billing codes)
PPM000565 PGS000194
(G-PROB_Rapos)
PSS000322|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Rheumatoid arhtirits diagnosis in patient with arthritis AUROC: 0.69 [0.65, 0.72] G-PROB_Raneg (Setting I: Assigning patient diagnoses based on billing codes)
PPM000576 PGS000199
(G-PROB_Gout)
PSS000310|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Gout diagnosis in patient with arthritis AUROC: 0.82 [0.73, 0.94] (Setting II: Assigning patient diagnoses based on medical records)
PPM000575 PGS000198
(G-PROB_PsA)
PSS000312|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Psoriatic arthritis diagnosis in patient with arthritis AUROC: 0.71 [0.63, 0.82] (Setting II: Assigning patient diagnoses based on medical records)
PPM000574 PGS000197
(G-PROB_SpA)
PSS000316|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Spondyloarthropathy diagnosis in patient with arthritis AUROC: 0.87 [0.76, 0.96] (Setting II: Assigning patient diagnoses based on medical records)
PPM000573 PGS000196
(G-PROB_SLE)
PSS000318|
European Ancestry|
245 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Systemic lupus erythematosus diagnosis in patient with arthritis AUROC: 0.79 [0.72, 0.85] (Setting II: Assigning patient diagnoses based on medical records)
PPM000570 PGS000199
(G-PROB_Gout)
PSS000320|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Gout diagnosis in patient with arthritis AUROC: 0.78 [0.75, 0.8] (Setting I: Assigning patient diagnoses based on billing codes)
PPM000569 PGS000198
(G-PROB_PsA)
PSS000321|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Psoriatic arthritis diagnosis in patient with arthritis AUROC: 0.61 [0.52, 0.69] (Setting I: Assigning patient diagnoses based on billing codes)
PPM000568 PGS000197
(G-PROB_SpA)
PSS000323|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Spondyloarthropathy diagnosis in patient with arthritis AUROC: 0.58 [0.5, 0.67] (Setting I: Assigning patient diagnoses based on billing codes)
PPM000567 PGS000196
(G-PROB_SLE)
PSS000324|
Multi-ancestry (including European)|
1,211 individuals
PGP000081 |
Knevel R et al. Sci Transl Med (2020)
Reported Trait: Systemic lupus erythematosus diagnosis in patient with arthritis AUROC: 0.74 [0.7, 0.78] (Setting I: Assigning patient diagnoses based on billing codes)
PPM001919 PGS000754
(PRS_SLE)
PSS000963|
East Asian Ancestry|
2,589 individuals
PGP000160 |
Wang YF et al. Nat Commun (2021)
Reported Trait: Systemic lupus erythematosus AUROC: 0.76 [0.74, 0.78]
PPM001920 PGS000754
(PRS_SLE)
PSS000960|
European Ancestry|
1,340 individuals
PGP000160 |
Wang YF et al. Nat Commun (2021)
Reported Trait: Systemic lupus erythematosus AUROC: 0.65
PPM001921 PGS000754
(PRS_SLE)
PSS000961|
European Ancestry|
7,733 individuals
PGP000160 |
Wang YF et al. Nat Commun (2021)
Reported Trait: Systemic lupus erythematosus AUROC: 0.65
PPM001922 PGS000754
(PRS_SLE)
PSS000962|
European Ancestry|
1,112 individuals
PGP000160 |
Wang YF et al. Nat Commun (2021)
Reported Trait: Systemic lupus erythematosus AUROC: 0.62
PPM001996 PGS000771
(GRS95_SLEmain)
PSS000994|
European Ancestry|
524 individuals
PGP000178 |
Chen L et al. Hum Mol Genet (2020)
Reported Trait: Renal disease age of onset AUROC: 0.576 [0.518, 0.634] Renal disease is used as a proxy for systemic lupus erythematosus severity
PPM001997 PGS000772
(GRS95_SLEgen)
PSS000993|
European Ancestry|
3,101 individuals
PGP000178 |
Chen L et al. Hum Mol Genet (2020)
Reported Trait: Renal disease Odds Ratio (OR, top 20% vs bottom 20%): 1.578 [1.25, 1.991] Renal disease is used as a proxy for systemic lupus erythematosus severity
PPM001998 PGS000771
(GRS95_SLEmain)
PSS000994|
European Ancestry|
524 individuals
PGP000178 |
Chen L et al. Hum Mol Genet (2020)
Reported Trait: Renal disease age of onset Odds Ratio (OR, top 20% vs bottom 20%): 3.155 [1.623, 6.133] Renal disease is used as a proxy for systemic lupus erythematosus severity
PPM002076 PGS000754
(PRS_SLE)
PSS001027|
Additional Asian Ancestries|
3,996 individuals
PGP000188 |
Tangtanatakul P et al. Arthritis Res Ther (2020)
|Ext.
Reported Trait: Systemic lupus erythematosus AUROC: 0.76
PPM007440 PGS000922
(GBE_HC170)
PSS004322|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sarcoidosis AUROC: 0.70759 [0.63998, 0.7752] PGS R2 (no covariates): 0.02057
: 0.05219
Incremental AUROC (full-covars): 0.03111
PGS AUROC (no covariates): 0.64298 [0.57429, 0.71167]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007441 PGS000922
(GBE_HC170)
PSS004323|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sarcoidosis AUROC: 0.67662 [0.6145, 0.73874] : 0.03062
Incremental AUROC (full-covars): 0.02209
PGS R2 (no covariates): 0.00799
PGS AUROC (no covariates): 0.60582 [0.54774, 0.66391]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007442 PGS000922
(GBE_HC170)
PSS004324|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sarcoidosis AUROC: 0.66108 [0.58927, 0.7329] : 0.03112
Incremental AUROC (full-covars): 0.00713
PGS R2 (no covariates): 0.00089
PGS AUROC (no covariates): 0.52621 [0.44905, 0.60338]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007443 PGS000922
(GBE_HC170)
PSS004325|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sarcoidosis AUROC: 0.6486 [0.60932, 0.68789] : 0.01916
Incremental AUROC (full-covars): 0.09187
PGS R2 (no covariates): 0.01741
PGS AUROC (no covariates): 0.64282 [0.60353, 0.68211]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007444 PGS000923
(GBE_HC639)
PSS004551|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE sarcoidosis AUROC: 0.70171 [0.64012, 0.7633] : 0.05018
Incremental AUROC (full-covars): 0.03514
PGS R2 (no covariates): 0.02657
PGS AUROC (no covariates): 0.66456 [0.60597, 0.72315]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007445 PGS000923
(GBE_HC639)
PSS004552|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE sarcoidosis AUROC: 0.67371 [0.61511, 0.7323] : 0.02923
Incremental AUROC (full-covars): 0.00926
PGS R2 (no covariates): 0.00429
PGS AUROC (no covariates): 0.58898 [0.53125, 0.64671]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007446 PGS000923
(GBE_HC639)
PSS004553|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE sarcoidosis AUROC: 0.67148 [0.61146, 0.73151] : 0.0372
Incremental AUROC (full-covars): 0.00677
PGS R2 (no covariates): 0.00103
PGS AUROC (no covariates): 0.52237 [0.45814, 0.58661]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007447 PGS000923
(GBE_HC639)
PSS004554|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE sarcoidosis AUROC: 0.65455 [0.6217, 0.6874] : 0.02088
Incremental AUROC (full-covars): 0.09004
PGS R2 (no covariates): 0.018
PGS AUROC (no covariates): 0.64561 [0.61168, 0.67954]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007619 PGS000959
(GBE_HC136)
PSS004268|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Connective tissue disorder AUROC: 0.73988 [0.69513, 0.78463] : 0.08185
Incremental AUROC (full-covars): 0.00979
PGS R2 (no covariates): 0.00642
PGS AUROC (no covariates): 0.56238 [0.49913, 0.62563]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007620 PGS000959
(GBE_HC136)
PSS004269|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Connective tissue disorder AUROC: 0.765 [0.66231, 0.86769] : 0.08382
Incremental AUROC (full-covars): 0.00696
PGS R2 (no covariates): 0.00136
PGS AUROC (no covariates): 0.56739 [0.42765, 0.70713]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007621 PGS000959
(GBE_HC136)
PSS004270|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Connective tissue disorder AUROC: 0.70495 [0.67184, 0.73806] : 0.05359
Incremental AUROC (full-covars): 0.00618
PGS R2 (no covariates): 0.00805
PGS AUROC (no covariates): 0.58596 [0.5496, 0.62231]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007622 PGS000959
(GBE_HC136)
PSS004271|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Connective tissue disorder AUROC: 0.72343 [0.67592, 0.77095] : 0.05576
Incremental AUROC (full-covars): 0.00018
PGS R2 (no covariates): 0.00021
PGS AUROC (no covariates): 0.5023 [0.43485, 0.56975]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007623 PGS000959
(GBE_HC136)
PSS004272|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Connective tissue disorder AUROC: 0.69784 [0.6789, 0.71679] : 0.04664
Incremental AUROC (full-covars): 0.00559
PGS R2 (no covariates): 0.00306
PGS AUROC (no covariates): 0.55344 [0.53166, 0.57522]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007624 PGS000960
(GBE_HC1236)
PSS004223|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other systemic involvement of connective tissue AUROC: 0.74837 [0.69221, 0.80452] : 0.07626
Incremental AUROC (full-covars): 0.01769
PGS R2 (no covariates): 0.01713
PGS AUROC (no covariates): 0.61343 [0.52677, 0.7001]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007625 PGS000960
(GBE_HC1236)
PSS004224|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other systemic involvement of connective tissue AUROC: 0.79135 [0.69278, 0.88991] : 0.08369
Incremental AUROC (full-covars): -0.00465
PGS R2 (no covariates): 0.00024
PGS AUROC (no covariates): 0.5117 [0.32426, 0.69914]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007626 PGS000960
(GBE_HC1236)
PSS004225|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other systemic involvement of connective tissue AUROC: 0.7269 [0.69558, 0.75821] : 0.06786
Incremental AUROC (full-covars): 0.0075
PGS R2 (no covariates): 0.01071
PGS AUROC (no covariates): 0.59671 [0.55999, 0.63343]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007627 PGS000960
(GBE_HC1236)
PSS004226|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other systemic involvement of connective tissue AUROC: 0.73659 [0.68777, 0.78541] : 0.05742
Incremental AUROC (full-covars): 0.00733
PGS R2 (no covariates): 0.00262
PGS AUROC (no covariates): 0.54916 [0.47373, 0.62459]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007628 PGS000960
(GBE_HC1236)
PSS004227|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other systemic involvement of connective tissue AUROC: 0.71878 [0.70158, 0.73597] : 0.05953
Incremental AUROC (full-covars): 0.01514
PGS R2 (no covariates): 0.00969
PGS AUROC (no covariates): 0.59312 [0.57229, 0.61395]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007658 PGS000967
(GBE_HC1221)
PSS004208|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.63448 [0.57611, 0.69284] : 0.02258
Incremental AUROC (full-covars): 0.01789
PGS R2 (no covariates): 0.0065
PGS AUROC (no covariates): 0.57452 [0.51022, 0.63883]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007659 PGS000967
(GBE_HC1221)
PSS004209|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.67991 [0.52221, 0.83761] : 0.03974
Incremental AUROC (full-covars): 0.00141
PGS R2 (no covariates): 0.00044
PGS AUROC (no covariates): 0.52299 [0.39821, 0.64778]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007660 PGS000967
(GBE_HC1221)
PSS004210|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.71352 [0.69682, 0.73022] : 0.07227
Incremental AUROC (full-covars): 0.00368
PGS R2 (no covariates): 0.00258
PGS AUROC (no covariates): 0.54164 [0.52116, 0.56213]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007661 PGS000967
(GBE_HC1221)
PSS004211|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.72467 [0.66733, 0.78201] : 0.06598
Incremental AUROC (full-covars): -0.00237
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.50363 [0.44232, 0.56493]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007662 PGS000967
(GBE_HC1221)
PSS004212|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE coxarthrosis [arthrosis of hip] AUROC: 0.69051 [0.68108, 0.69995] : 0.06247
Incremental AUROC (full-covars): 0.00918
PGS R2 (no covariates): 0.00628
PGS AUROC (no covariates): 0.5611 [0.55051, 0.57168]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007918 PGS001031
(GBE_HC1261)
PSS004238|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE fibroblastic disorders AUROC: 0.55976 [0.51029, 0.60922] : 0.00596
Incremental AUROC (full-covars): -0.03186
PGS R2 (no covariates): 0.00184
PGS AUROC (no covariates): 0.46286 [0.41124, 0.51449]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007919 PGS001031
(GBE_HC1261)
PSS004239|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE fibroblastic disorders AUROC: 0.61535 [0.53232, 0.69839] : 0.02963
Incremental AUROC (full-covars): -0.02095
PGS R2 (no covariates): 0.00331
PGS AUROC (no covariates): 0.4468 [0.36142, 0.53217]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007920 PGS001031
(GBE_HC1261)
PSS004240|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE fibroblastic disorders AUROC: 0.60695 [0.58839, 0.62551] : 0.02173
Incremental AUROC (full-covars): 0.01126
PGS R2 (no covariates): 0.00604
PGS AUROC (no covariates): 0.55704 [0.53852, 0.57555]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007921 PGS001031
(GBE_HC1261)
PSS004241|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE fibroblastic disorders AUROC: 0.61823 [0.59234, 0.64411] : 0.02603
Incremental AUROC (full-covars): -0.00675
PGS R2 (no covariates): 2e-05
PGS AUROC (no covariates): 0.5053 [0.47836, 0.53224]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007922 PGS001031
(GBE_HC1261)
PSS004242|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE fibroblastic disorders AUROC: 0.61508 [0.60485, 0.62531] : 0.0247
Incremental AUROC (full-covars): 0.02537
PGS R2 (no covariates): 0.01088
PGS AUROC (no covariates): 0.57699 [0.56677, 0.5872]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008013 PGS001051
(GBE_HC96)
PSS004751|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.84007 [0.73377, 0.94637] : 0.10995
Incremental AUROC (full-covars): 0.00396
PGS R2 (no covariates): 0.0041
PGS AUROC (no covariates): 0.59347 [0.45814, 0.7288]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008014 PGS001051
(GBE_HC96)
PSS004752|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.94435 [0.88977, 0.99892] : 0.24363
Incremental AUROC (full-covars): 0.00372
PGS R2 (no covariates): 0.00287
PGS AUROC (no covariates): 0.45385 [0.09439, 0.81331]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008015 PGS001051
(GBE_HC96)
PSS004753|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.82077 [0.78717, 0.85438] : 0.12384
Incremental AUROC (full-covars): 0.0077
PGS R2 (no covariates): 0.01385
PGS AUROC (no covariates): 0.60167 [0.54507, 0.65826]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008016 PGS001051
(GBE_HC96)
PSS004754|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.73708 [0.62459, 0.84956] : 0.05254
Incremental AUROC (full-covars): 0.00266
PGS R2 (no covariates): 0.00471
PGS AUROC (no covariates): 0.54813 [0.38601, 0.71025]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008017 PGS001051
(GBE_HC96)
PSS004755|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Polymyalgia rheumatica AUROC: 0.76042 [0.73986, 0.78098] : 0.07774
Incremental AUROC (full-covars): 0.0165
PGS R2 (no covariates): 0.01265
PGS AUROC (no covariates): 0.61026 [0.58102, 0.6395]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008289 PGS001110
(GBE_HC1209)
PSS004183|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE reactive arthropathies AUROC: 0.9594 [0.92062, 0.99818] : 0.17918
Incremental AUROC (full-covars): 0.00395
PGS R2 (no covariates): 0.00991
PGS AUROC (no covariates): 0.72061 [0.49213, 0.9491]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008290 PGS001110
(GBE_HC1209)
PSS004185|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE reactive arthropathies AUROC: 0.77096 [0.63921, 0.90271] : 0.09743
Incremental AUROC (full-covars): 0.03274
PGS R2 (no covariates): 0.03411
PGS AUROC (no covariates): 0.65137 [0.47674, 0.826]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008291 PGS001110
(GBE_HC1209)
PSS004186|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE reactive arthropathies AUROC: 0.94552 [0.83969, 1.0] : 0.25627
Incremental AUROC (full-covars): 0.00045
PGS R2 (no covariates): 0.00071
PGS AUROC (no covariates): 0.67786 [0.66768, 0.68805]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008292 PGS001110
(GBE_HC1209)
PSS004187|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE reactive arthropathies AUROC: 0.6839 [0.58647, 0.78132] : 0.03053
Incremental AUROC (full-covars): 0.07922
PGS R2 (no covariates): 0.02879
PGS AUROC (no covariates): 0.66167 [0.54859, 0.77475]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008403 PGS001135
(GBE_HC78)
PSS004627|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Arthritis (nos) AUROC: 0.7166 [0.69191, 0.7413] : 0.0961
Incremental AUROC (full-covars): -0.00204
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.50267 [0.47421, 0.53114]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008404 PGS001135
(GBE_HC78)
PSS004628|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Arthritis (nos) AUROC: 0.78855 [0.73521, 0.8419] : 0.13042
Incremental AUROC (full-covars): -0.00593
PGS R2 (no covariates): 0.00821
PGS AUROC (no covariates): 0.42483 [0.32454, 0.52511]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008405 PGS001135
(GBE_HC78)
PSS004629|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Arthritis (nos) AUROC: 0.67424 [0.65969, 0.68878] : 0.05468
Incremental AUROC (full-covars): 0.00314
PGS R2 (no covariates): 0.00291
PGS AUROC (no covariates): 0.53928 [0.52302, 0.55554]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008406 PGS001135
(GBE_HC78)
PSS004630|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Arthritis (nos) AUROC: 0.71014 [0.68888, 0.73139] : 0.08893
Incremental AUROC (full-covars): 0.00207
PGS R2 (no covariates): 0.00153
PGS AUROC (no covariates): 0.52639 [0.5015, 0.55128]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008407 PGS001135
(GBE_HC78)
PSS004631|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Arthritis (nos) AUROC: 0.64961 [0.64135, 0.65786] : 0.04342
Incremental AUROC (full-covars): 0.00228
PGS R2 (no covariates): 0.00147
PGS AUROC (no covariates): 0.52671 [0.51771, 0.53571]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008609 PGS001192
(GBE_HC1222)
PSS004213|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.68497 [0.65949, 0.71044] : 0.07256
Incremental AUROC (full-covars): -0.01106
PGS R2 (no covariates): 0.00014
PGS AUROC (no covariates): 0.48548 [0.45782, 0.51313]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008610 PGS001192
(GBE_HC1222)
PSS004214|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.6973 [0.62907, 0.76552] : 0.05404
Incremental AUROC (full-covars): -0.01876
PGS R2 (no covariates): 0.00104
PGS AUROC (no covariates): 0.48101 [0.40847, 0.55354]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008611 PGS001192
(GBE_HC1222)
PSS004215|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.66024 [0.6461, 0.67438] PGS R2 (no covariates): 0.00516
: 0.04745
Incremental AUROC (full-covars): 0.00488
PGS AUROC (no covariates): 0.54777 [0.53172, 0.56382]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008612 PGS001192
(GBE_HC1222)
PSS004216|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.72749 [0.70853, 0.74646] : 0.11678
Incremental AUROC (full-covars): 0.00024
PGS R2 (no covariates): 0.00229
PGS AUROC (no covariates): 0.53307 [0.5103, 0.55585]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008613 PGS001192
(GBE_HC1222)
PSS004217|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gonarthrosis [arthrosis of knee] AUROC: 0.64504 [0.63733, 0.65274] : 0.04312
Incremental AUROC (full-covars): 0.0104
PGS R2 (no covariates): 0.0068
PGS AUROC (no covariates): 0.55655 [0.54824, 0.56485]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008749 PGS001248
(GBE_HC328)
PSS004452|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Gout AUROC: 0.8285 [0.79138, 0.86562] : 0.15624
Incremental AUROC (full-covars): 0.01741
PGS R2 (no covariates): 0.02051
PGS AUROC (no covariates): 0.62118 [0.56505, 0.67731]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008750 PGS001248
(GBE_HC328)
PSS004453|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Gout AUROC: 0.84973 [0.79458, 0.90489] : 0.22864
Incremental AUROC (full-covars): 0.02603
PGS R2 (no covariates): 0.04315
PGS AUROC (no covariates): 0.65938 [0.56975, 0.74901]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008751 PGS001248
(GBE_HC328)
PSS004454|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Gout AUROC: 0.83619 [0.82126, 0.85113] : 0.17414
Incremental AUROC (full-covars): 0.02904
PGS R2 (no covariates): 0.03561
PGS AUROC (no covariates): 0.66092 [0.63744, 0.6844]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008752 PGS001248
(GBE_HC328)
PSS004455|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Gout AUROC: 0.77913 [0.74649, 0.81177] : 0.11671
Incremental AUROC (full-covars): 0.03258
PGS R2 (no covariates): 0.0283
PGS AUROC (no covariates): 0.63533 [0.59256, 0.6781]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008753 PGS001248
(GBE_HC328)
PSS004456|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Gout AUROC: 0.81572 [0.80628, 0.82516] Incremental AUROC (full-covars): 0.04061
PGS R2 (no covariates): 0.04014
: 0.15436
PGS AUROC (no covariates): 0.66908 [0.65556, 0.6826]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008754 PGS001249
(GBE_HC1215)
PSS004203|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.77537 [0.73576, 0.81498] : 0.12063
Incremental AUROC (full-covars): 0.01433
PGS R2 (no covariates): 0.01201
PGS AUROC (no covariates): 0.58952 [0.54447, 0.63458]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008755 PGS001249
(GBE_HC1215)
PSS004204|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.8503 [0.79897, 0.90164] : 0.23863
Incremental AUROC (full-covars): 0.01971
PGS R2 (no covariates): 0.02733
PGS AUROC (no covariates): 0.62617 [0.54055, 0.7118]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008756 PGS001249
(GBE_HC1215)
PSS004205|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.81772 [0.80388, 0.83156] : 0.17135
Incremental AUROC (full-covars): 0.02929
PGS R2 (no covariates): 0.03724
PGS AUROC (no covariates): 0.65807 [0.63913, 0.67702]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008757 PGS001249
(GBE_HC1215)
PSS004206|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.76492 [0.73884, 0.79099] : 0.11928
Incremental AUROC (full-covars): 0.02377
PGS R2 (no covariates): 0.02209
PGS AUROC (no covariates): 0.61344 [0.57941, 0.64746]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008758 PGS001249
(GBE_HC1215)
PSS004207|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE gout AUROC: 0.79258 [0.7842, 0.80095] : 0.14867
Incremental AUROC (full-covars): 0.03784
PGS R2 (no covariates): 0.03919
PGS AUROC (no covariates): 0.65389 [0.64293, 0.66484]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008840 PGS001267
(GBE_HC422)
PSS004486|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.86744 [0.75569, 0.97918] : 0.1463
Incremental AUROC (full-covars): -0.00062
PGS R2 (no covariates): 0.00216
PGS AUROC (no covariates): 0.4722 [0.12421, 0.82018]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008841 PGS001267
(GBE_HC422)
PSS004487|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.98913 [0.972, 1.0] : 0.44316
Incremental AUROC (full-covars): 0.0423
PGS R2 (no covariates): 0.24382
PGS AUROC (no covariates): 0.81698 [0.46329, 1.0]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008842 PGS001267
(GBE_HC422)
PSS004488|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.73638 [0.67151, 0.80124] : 0.10414
Incremental AUROC (full-covars): 0.06004
PGS R2 (no covariates): 0.07222
PGS AUROC (no covariates): 0.67545 [0.60736, 0.74353]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008843 PGS001267
(GBE_HC422)
PSS004489|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.73535 [0.61203, 0.85867] : 0.03713
Incremental AUROC (full-covars): -0.01782
PGS R2 (no covariates): 0.00902
PGS AUROC (no covariates): 0.42181 [0.29024, 0.55338]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008844 PGS001267
(GBE_HC422)
PSS004490|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Ankylosing spondylitis AUROC: 0.74328 [0.70673, 0.77983] : 0.10925
Incremental AUROC (full-covars): 0.12994
PGS R2 (no covariates): 0.09877
PGS AUROC (no covariates): 0.72651 [0.68965, 0.76337]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008845 PGS001268
(GBE_HC1242)
PSS004228|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.86811 [0.75774, 0.97849] : 0.14598
Incremental AUROC (full-covars): 6e-05
PGS R2 (no covariates): 0.00104
PGS AUROC (no covariates): 0.48424 [0.12443, 0.84406]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008846 PGS001268
(GBE_HC1242)
PSS004229|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.99148 [0.9789, 1.0] : 0.44858
Incremental AUROC (full-covars): 0.04465
PGS R2 (no covariates): 0.23755
PGS AUROC (no covariates): 0.81257 [0.45025, 1.0]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008847 PGS001268
(GBE_HC1242)
PSS004230|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.73336 [0.66901, 0.79772] : 0.10217
Incremental AUROC (full-covars): 0.0575
PGS R2 (no covariates): 0.06991
PGS AUROC (no covariates): 0.67405 [0.607, 0.74111]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008848 PGS001268
(GBE_HC1242)
PSS004231|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.73282 [0.61573, 0.84991] : 0.03979
Incremental AUROC (full-covars): -0.01963
PGS R2 (no covariates): 0.00774
PGS AUROC (no covariates): 0.4297 [0.29438, 0.56502]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008849 PGS001268
(GBE_HC1242)
PSS004232|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE ankylosing spondylitis AUROC: 0.74878 [0.71314, 0.78442] : 0.115
Incremental AUROC (full-covars): 0.12686
PGS R2 (no covariates): 0.10232
PGS AUROC (no covariates): 0.7346 [0.69884, 0.77037]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008933 PGS001287
(GBE_HC91)
PSS004706|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.98006 [0.94602, 1.0] Incremental AUROC (full-covars): 0.00516
: 0.29301
PGS R2 (no covariates): 0.01017
PGS AUROC (no covariates): 0.72132 [0.63231, 0.81034]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008934 PGS001287
(GBE_HC91)
PSS004707|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.99354 [0.98059, 1.0] : 0.5357
Incremental AUROC (full-covars): -0.00088
PGS R2 (no covariates): 0.00227
PGS AUROC (no covariates): 0.47826 [0.0, 0.96911]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008935 PGS001287
(GBE_HC91)
PSS004708|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.72814 [0.67154, 0.78475] : 0.05154
Incremental AUROC (full-covars): 0.08346
PGS R2 (no covariates): 0.0335
PGS AUROC (no covariates): 0.67648 [0.61155, 0.7414]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008936 PGS001287
(GBE_HC91)
PSS004709|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.71827 [0.61363, 0.82292] : 0.04395
Incremental AUROC (full-covars): 0.00838
PGS R2 (no covariates): 0.00229
PGS AUROC (no covariates): 0.56943 [0.44876, 0.69011]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008937 PGS001287
(GBE_HC91)
PSS004710|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Psoriatic arthropathy AUROC: 0.6376 [0.60073, 0.67447] : 0.02161
Incremental AUROC (full-covars): 0.0945
PGS R2 (no covariates): 0.02111
PGS AUROC (no covariates): 0.63567 [0.598, 0.67334]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008948 PGS001290
(GBE_HC376)
PSS004461|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Osteoarthritis AUROC: 0.75416 [0.72668, 0.78163] : 0.12216
Incremental AUROC (full-covars): -3e-05
PGS R2 (no covariates): 0.00052
PGS AUROC (no covariates): 0.51951 [0.48655, 0.55248]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008949 PGS001290
(GBE_HC376)
PSS004462|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Osteoarthritis AUROC: 0.74181 [0.68024, 0.80338] : 0.09715
Incremental AUROC (full-covars): -0.00139
PGS R2 (no covariates): 0.00189
PGS AUROC (no covariates): 0.54245 [0.47153, 0.61338]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008950 PGS001290
(GBE_HC376)
PSS004463|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Osteoarthritis AUROC: 0.70244 [0.69044, 0.71444] : 0.08191
Incremental AUROC (full-covars): 0.0007
PGS R2 (no covariates): 0.0006
PGS AUROC (no covariates): 0.51661 [0.5024, 0.53082]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008951 PGS001290
(GBE_HC376)
PSS004464|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Osteoarthritis AUROC: 0.72534 [0.70181, 0.74887] : 0.09768
Incremental AUROC (full-covars): -0.00173
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.49787 [0.47035, 0.52539]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008952 PGS001290
(GBE_HC376)
PSS004465|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Osteoarthritis AUROC: 0.67419 [0.66753, 0.68085] : 0.0674
Incremental AUROC (full-covars): 0.00134
PGS R2 (no covariates): 0.00109
PGS AUROC (no covariates): 0.52166 [0.51404, 0.52927]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009039 PGS001309
(GBE_HC1212)
PSS004193|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.69751 [0.65515, 0.73988] : 0.05129
Incremental AUROC (full-covars): -0.00017
PGS R2 (no covariates): 0.00056
PGS AUROC (no covariates): 0.52591 [0.47486, 0.57696]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009040 PGS001309
(GBE_HC1212)
PSS004194|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.67331 [0.56418, 0.78244] : 0.07058
Incremental AUROC (full-covars): -0.02511
PGS R2 (no covariates): 0.0
PGS AUROC (no covariates): 0.50714 [0.3797, 0.63457]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009041 PGS001309
(GBE_HC1212)
PSS004195|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.6872 [0.66167, 0.71273] : 0.04826
Incremental AUROC (full-covars): 0.02601
PGS R2 (no covariates): 0.01537
PGS AUROC (no covariates): 0.59782 [0.56885, 0.62679]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009042 PGS001309
(GBE_HC1212)
PSS004196|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.70239 [0.66722, 0.73755] : 0.06164
Incremental AUROC (full-covars): -0.00362
PGS R2 (no covariates): 0.00158
PGS AUROC (no covariates): 0.53481 [0.4923, 0.57731]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009043 PGS001309
(GBE_HC1212)
PSS004197|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other rheumatoid arthritis AUROC: 0.66538 [0.65101, 0.67976] : 0.03893
Incremental AUROC (full-covars): 0.03207
PGS R2 (no covariates): 0.01495
PGS AUROC (no covariates): 0.59784 [0.582, 0.61368]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009044 PGS001310
(GBE_HC430)
PSS004491|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.70522 [0.66309, 0.74736] : 0.0544
Incremental AUROC (full-covars): 0.00203
PGS R2 (no covariates): 0.00109
PGS AUROC (no covariates): 0.53147 [0.47999, 0.58294]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009045 PGS001310
(GBE_HC430)
PSS004492|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.66116 [0.54578, 0.77655] : 0.06929
Incremental AUROC (full-covars): -0.02514
PGS R2 (no covariates): 0.00033
PGS AUROC (no covariates): 0.52178 [0.38366, 0.6599]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009046 PGS001310
(GBE_HC430)
PSS004493|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.68857 [0.6632, 0.71393] : 0.04919
Incremental AUROC (full-covars): 0.02092
PGS R2 (no covariates): 0.01316
PGS AUROC (no covariates): 0.58714 [0.55751, 0.61676]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009047 PGS001310
(GBE_HC430)
PSS004494|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.70402 [0.66905, 0.73899] : 0.06207
Incremental AUROC (full-covars): -0.0019
PGS R2 (no covariates): 0.00142
PGS AUROC (no covariates): 0.53137 [0.48984, 0.57291]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009048 PGS001310
(GBE_HC430)
PSS004495|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Rheumatoid arthritis AUROC: 0.66508 [0.65049, 0.67967] : 0.03894
Incremental AUROC (full-covars): 0.03077
PGS R2 (no covariates): 0.01509
PGS AUROC (no covariates): 0.60018 [0.58428, 0.61607]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009049 PGS001311
(GBE_HC1211)
PSS004188|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE seropositive rheumatoid arthritis AUROC: 0.90345 [0.82233, 0.98457] : 0.16794
Incremental AUROC (full-covars): -0.00669
PGS R2 (no covariates): 0.01613
PGS AUROC (no covariates): 0.39273 [0.11505, 0.67041]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009050 PGS001311
(GBE_HC1211)
PSS004190|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE seropositive rheumatoid arthritis AUROC: 0.76787 [0.6839, 0.85184] : 0.08412
Incremental AUROC (full-covars): 0.0418
PGS R2 (no covariates): 0.05847
PGS AUROC (no covariates): 0.73164 [0.63667, 0.82662]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009051 PGS001311
(GBE_HC1211)
PSS004191|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE seropositive rheumatoid arthritis AUROC: 0.76865 [0.6608, 0.87651] : 0.08089
Incremental AUROC (full-covars): -0.00731
PGS R2 (no covariates): 0.00567
PGS AUROC (no covariates): 0.50626 [0.35145, 0.66107]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009052 PGS001311
(GBE_HC1211)
PSS004192|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE seropositive rheumatoid arthritis AUROC: 0.73785 [0.69634, 0.77936] : 0.05309
Incremental AUROC (full-covars): 0.09202
PGS R2 (no covariates): 0.04612
PGS AUROC (no covariates): 0.7072 [0.65945, 0.75495]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

Evaluated Samples

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
PSS004183
[
  • 3 cases
  • , 6,494 controls
]
African unspecified UKB
PSS004185
[
  • 12 cases
  • , 24,893 controls
]
European non-white British ancestry UKB
PSS004186
[
  • 2 cases
  • , 7,829 controls
]
South Asian UKB
PSS004187
[
  • 30 cases
  • , 67,395 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004188
[
  • 5 cases
  • , 6,492 controls
]
African unspecified UKB
PSS004190
[
  • 32 cases
  • , 24,873 controls
]
European non-white British ancestry UKB
PSS004191
[
  • 18 cases
  • , 7,813 controls
]
South Asian UKB
PSS004192
[
  • 127 cases
  • , 67,298 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004193
[
  • 122 cases
  • , 6,375 controls
]
African unspecified UKB
PSS004706
[
  • 2 cases
  • , 6,495 controls
]
African unspecified UKB
PSS004707
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004708
[
  • 81 cases
  • , 24,824 controls
]
European non-white British ancestry UKB
PSS004709
[
  • 21 cases
  • , 7,810 controls
]
South Asian UKB
PSS004710
[
  • 231 cases
  • , 67,194 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004194
[
  • 19 cases
  • , 1,685 controls
]
East Asian UKB
PSS004195
[
  • 409 cases
  • , 24,496 controls
]
European non-white British ancestry UKB
PSS004196
[
  • 197 cases
  • , 7,634 controls
]
South Asian UKB
PSS004197
[
  • 1,343 cases
  • , 66,082 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004203
[
  • 145 cases
  • , 6,352 controls
]
African unspecified UKB
PSS004204
[
  • 46 cases
  • , 1,658 controls
]
East Asian UKB
PSS004205
[
  • 749 cases
  • , 24,156 controls
]
European non-white British ancestry UKB
PSS004206
[
  • 286 cases
  • , 7,545 controls
]
South Asian UKB
PSS004207
[
  • 2,391 cases
  • , 65,034 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004208
[
  • 85 cases
  • , 6,412 controls
]
African unspecified UKB
PSS004209
[
  • 16 cases
  • , 1,688 controls
]
East Asian UKB
PSS004210
[
  • 779 cases
  • , 24,126 controls
]
European non-white British ancestry UKB
PSS004211
[
  • 74 cases
  • , 7,757 controls
]
South Asian UKB
PSS004212
[
  • 2,783 cases
  • , 64,642 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004213
[
  • 443 cases
  • , 6,054 controls
]
African unspecified UKB
PSS004214
[
  • 56 cases
  • , 1,648 controls
]
East Asian UKB
PSS004215
[
  • 1,333 cases
  • , 23,572 controls
]
European non-white British ancestry UKB
PSS004216
[
  • 684 cases
  • , 7,147 controls
]
South Asian UKB
PSS004217
[
  • 4,861 cases
  • , 62,564 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004223
[
  • 44 cases
  • , 6,453 controls
]
African unspecified UKB
PSS004224
[
  • 9 cases
  • , 1,695 controls
]
East Asian UKB
PSS004225
[
  • 238 cases
  • , 24,667 controls
]
European non-white British ancestry UKB
PSS004226
[
  • 63 cases
  • , 7,768 controls
]
South Asian UKB
PSS004227
[
  • 696 cases
  • , 66,729 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004228
[
  • 5 cases
  • , 6,492 controls
]
African unspecified UKB
PSS004229
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004230
[
  • 80 cases
  • , 24,825 controls
]
European non-white British ancestry UKB
PSS004231
[
  • 15 cases
  • , 7,816 controls
]
South Asian UKB
PSS004232
[
  • 278 cases
  • , 67,147 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000993 All individuals had systemic lupus erythematosus. Cases are individuals that also have renal disease
[
  • 1,152 cases
  • , 1,949 controls
]
European NR
PSS000994 All individuals had systemic lupus erythematosus. Cases are individuals that also have renal disease
[
  • 146 cases
  • , 378 controls
]
European NR Cases and controls obtained by SLEGEN.
PSS004238
[
  • 130 cases
  • , 6,367 controls
]
African unspecified UKB
PSS004239
[
  • 49 cases
  • , 1,655 controls
]
East Asian UKB
PSS004240
[
  • 991 cases
  • , 23,914 controls
]
European non-white British ancestry UKB
PSS004241
[
  • 456 cases
  • , 7,375 controls
]
South Asian UKB
PSS004242
[
  • 3,254 cases
  • , 64,171 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004751
[
  • 13 cases
  • , 6,484 controls
]
African unspecified UKB
PSS004752
[
  • 3 cases
  • , 1,701 controls
]
East Asian UKB
PSS004753
[
  • 118 cases
  • , 24,787 controls
]
European non-white British ancestry UKB
PSS000429 JIA diagnosis was made according to International League of Associations for Rheumatology standards (PMID:14760812) from EHR. Control subjects were unrelated and disease-free children.
[
  • 66 cases
  • , 2,954 controls
]
,
51.46 % Male samples
European CHOP
PSS000430 JIA diagnosis was made according to International League of Associations for Rheumatology standards (PMID:14760812) from EHR. Control subjects were unrelated and disease-free children.
[
  • 203 cases
  • , 2,954 controls
]
,
49.19 % Male samples
European CHOP
PSS000431 JIA diagnosis was made according to International League of Associations for Rheumatology standards (PMID:14760812) from EHR. Control subjects were unrelated and disease-free children.
[
  • 135 cases
  • , 2,954 controls
]
,
50.11 % Male samples
European CHOP
PSS000432 Diagnosis of JIA by a paediatric rheumatologist.
[
  • 16 cases
  • , 578 controls
]
,
58.59 % Male samples
European CLARITY Cohort description (PMID): 23153063
PSS000433 Diagnosis of JIA by a paediatric rheumatologist.
[
  • 159 cases
  • , 578 controls
]
,
51.15 % Male samples
European CLARITY Cohort description (PMID): 23153063
PSS000434 Diagnosis of JIA by a paediatric rheumatologist.
[
  • 75 cases
  • , 578 controls
]
,
54.82 % Male samples
European CLARITY Cohort description (PMID): 23153063
PSS004755
[
  • 394 cases
  • , 67,031 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000436 The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden. All subjects fulfilled ≥4 ACR-82 classification criteria for SLE and were of European descent.30 Clinical data were collected from the patients’ medical files, including SDI scores, the ACR-82 classification criteria, clinical antiphospholipid syndrome (APS) diagnosis, glomerular filtration rate, chronic kidney disease (CKD) stages, ESRD, renal biopsy data and CVE, defined as myocardial infarction, ischaemic cerebrovascular disease or venous thromboembolism (VTE). Control individuals were healthy blood donors from Uppsala (Uppsala Bioresource) and Lund or population based controls from Stockholm and the four northernmost counties of Sweden.
[
  • 1,001 cases
  • , 2,802 controls
]
European Karolinska, UHU The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden
PSS000437 The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden. All subjects fulfilled ≥4 ACR-82 classification criteria for SLE and were of European descent.30 Clinical data were collected from the patients’ medical files, including SDI scores, the ACR-82 classification criteria, clinical antiphospholipid syndrome (APS) diagnosis, glomerular filtration rate, chronic kidney disease (CKD) stages, ESRD, renal biopsy data and CVE, defined as myocardial infarction, ischaemic cerebrovascular disease or venous thromboembolism (VTE).
[
  • 1,001 cases
  • , 0 controls
]
European Karolinska, UHU The discovery cohort included 1001 patients from the University clinics in Uppsala, Linköping, Karolinska Institute (Stockholm), Lund, and from the four northern-most counties in Sweden
PSS000438
[
  • 5,524 cases
  • , 9,859 controls
]
European NR The replication cohort is described in Langefeld et al. (PMID:28714469)
PSS004323
[
  • 67 cases
  • , 24,838 controls
]
European non-white British ancestry UKB
PSS004324
[
  • 48 cases
  • , 7,783 controls
]
South Asian UKB
PSS000179 JIA diagnosis was made according to International League of Associations for Rheumatology standards (PMID:14760812) from EHR. Control subjects were unrelated and disease-free children.
[
  • 559 cases
  • , 2,954 controls
]
,
47.5 % Male samples
European CHOP
PSS000180 Diagnosis of JIA by a paediatric rheumatologist.
[
  • 362 cases
  • , 578 controls
]
,
48.9 % Male samples
European CLARITY Cohort description (PMID): 23153063
PSS004268
[
  • 83 cases
  • , 6,414 controls
]
African unspecified UKB
PSS004325
[
  • 176 cases
  • , 67,249 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004269
[
  • 13 cases
  • , 1,691 controls
]
East Asian UKB
PSS004270
[
  • 238 cases
  • , 24,667 controls
]
European non-white British ancestry UKB
PSS004271
[
  • 75 cases
  • , 7,756 controls
]
South Asian UKB
PSS004272
[
  • 664 cases
  • , 66,761 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000815 87,413 individuals European UKB
PSS000816 ICD-10 M10
[
  • 1,936 cases
  • , 133,364 controls
]
European
(Finnish)
FinnGen
PSS004322
[
  • 58 cases
  • , 6,439 controls
]
African unspecified UKB
PSS000310 Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 8.0 years
[
  • 32 cases
  • , 213 controls
]
,
32.0 % Male samples
European PHB
PSS000311 Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 7.0 years
[
  • 22 cases
  • , 221 controls
]
,
32.0 % Male samples
European PHB
PSS000312 Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 8.0 years
[
  • 30 cases
  • , 215 controls
]
,
32.0 % Male samples
European PHB
PSS000313 Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 7.0 years
[
  • 22 cases
  • , 221 controls
]
,
32.0 % Male samples
European PHB
PSS000314 Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 8.0 years
[
  • 90 cases
  • , 155 controls
]
,
32.0 % Male samples
European PHB
PSS000315 Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 7.0 years
[
  • 115 cases
  • , 128 controls
]
,
32.0 % Male samples
European PHB
PSS000316 Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 8.0 years
[
  • 31 cases
  • , 214 controls
]
,
32.0 % Male samples
European PHB
PSS000317 Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 7.0 years
[
  • 8 cases
  • , 235 controls
]
,
32.0 % Male samples
European PHB
PSS000318 Setting II: Based on ICD codes and review of medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 8.0 years
[
  • 62 cases
  • , 183 controls
]
,
32.0 % Male samples
European PHB
PSS000319 Setting III: Based on ICD codes and final diagnosis in medical records from Partners HealthCare Biobank; controls = other non-matching arthritis diseases Median = 7.0 years
[
  • 7 cases
  • , 236 controls
]
,
32.0 % Male samples
European PHB
PSS000320 Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases Median = 16.0 years
[
  • 387 cases
  • , 824 controls
]
,
43.0 % Male samples
European, African unspecified, Asian unspecified, NR Primarily European, African and Asian ancestry eMERGE
PSS000321 Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases Median = 16.0 years
[
  • 52 cases
  • , 1,159 controls
]
,
43.0 % Male samples
European, African unspecified, Asian unspecified, NR Primarily European, African and Asian ancestry eMERGE
PSS000322 Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases Median = 16.0 years
[
  • 574 cases
  • , 637 controls
]
,
43.0 % Male samples
European, African unspecified, Asian unspecified, NR Primarily European, African and Asian ancestry eMERGE
PSS000323 Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases Median = 16.0 years
[
  • 65 cases
  • , 1,146 controls
]
,
43.0 % Male samples
European, African unspecified, Asian unspecified, NR Primarily European, African and Asian ancestry eMERGE
PSS000324 Setting I: Based on ICD codes and expert opinion (ACR2010 criteria), in eMERGE network EMR database from Stanaway 2018; controls = other non-matching arthritis diseases Median = 16.0 years
[
  • 133 cases
  • , 1,078 controls
]
,
43.0 % Male samples
European, African unspecified, Asian unspecified, NR Primarily European, African and Asian ancestry eMERGE
PSS000489 The diagnosttic criteria for each disease was based on gold-standard clinical guidelines. 339 individuals European
(Spanish)
PRECISESADS
PSS000490 Cases included physician-confirmed psoriatic arthritis (PsA). Controls inclded individuals with psoriasis with no history of joint symptoms (psoriasis only - PsO).
[
  • 140 cases
  • , 403 controls
]
NR NR
PSS004754
[
  • 16 cases
  • , 7,815 controls
]
South Asian UKB
PSS001027 Cases were individuals with systemic lupus erythematosus (SLE). All cases were carefully recruited regarding the criteria from the American College of Rheumatology (ACR). Controls included healthy individuals and individuals who had unrelated diseases including: breast cancer, periodontitis, tuberculosis, drug-induced liver injury, epileptic encephalopathy, dengue hemorrhagic fever, thalassemia, and cardiomyopathy.
[
  • 826 cases
  • , 3,170 controls
]
,
40.31 % Male samples
South East Asian
(Thai)
NR Cases were recruited from King Chulalongkorn Memorial Hospital and the Rheumatology clinic at Ramathbodi hospital. Control data was provided by the Department of Medical Science, Min- istry of Public Health, Thailand.
PSS004452
[
  • 93 cases
  • , 6,404 controls
]
African unspecified UKB
PSS004453
[
  • 38 cases
  • , 1,666 controls
]
East Asian UKB
PSS004454
[
  • 486 cases
  • , 24,419 controls
]
European non-white British ancestry UKB
PSS004455
[
  • 175 cases
  • , 7,656 controls
]
South Asian UKB
PSS004456
[
  • 1,484 cases
  • , 65,941 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS001034 Cases were individuals with cutaneous lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42.
[
  • 161 cases
  • , 47,160 controls
]
European BioVu
PSS001035 Cases were individuals with systemic lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42.
[
  • 880 cases
  • , 47,037 controls
]
European BioVu
PSS001036 Cases were individuals with type 1 diabetes. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for type 1 diabetes include: 250.1. Of all the type 1 diabetes cases, 276 had renal manifestations, 240 had ophthalmic manifestations and 475 had neurological manifestations
[
  • 1,881 cases
  • , 38,647 controls
]
European BioVu
PSS001037 Cases were individuals with erythematosus conditions. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42.
[
  • 1,916 cases
  • , 48,513 controls
]
European BioVu
PSS001038 Cases were individuals with lupus (localised and systemic). Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42.
[
  • 867 cases
  • , 47,037 controls
]
European BioVu
PSS001039 Cases were individuals with cutaneous lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42.
[
  • 120 cases
  • , 18,302 controls
]
European eMERGE
PSS001040 Cases were individuals with systemic lupus erythematosus. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42.
[
  • 393 cases
  • , 18,305 controls
]
European eMERGE
PSS001041 Cases were individuals with type 1 diabetes. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for type 1 diabetes include: 250.1. Of the type 1 diabetes cases 165 had renal manifestations, 230 had ophthalmic manifestations and 218 had neurological manifestations.
[
  • 1,156 cases
  • , 18,035 controls
]
European eMERGE
PSS001042 Cases were individuals with erythematosus conditions. Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits. For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record. Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42.
[
  • 3,029 cases
  • , 18,445 controls
]
European eMERGE
PSS001043 Cases were individuals with lupus (localised and systemic). Cases were identified by extracting clinical diagnoses from the electronic health record using the 9th and 10th International Statistical Classification of Diseases and Related Health Problems (ICD) Clinical Modification (CM) codes that mapped to the phenotype and transformed these ICD9/ICD10 codes into phecodes, which aggregate one or more related ICD codes into distinct diseases or traits.For each phenotype, cases were defined as individuals with 2 or more instances of the specific phecode in the electronic health record.Phecodes for lupus related disorders (systemic and cutaneous) include: 695.4, 695.41, 696.42.
[
  • 418 cases
  • , 18,304 controls
]
European eMERGE
PSS004461
[
  • 305 cases
  • , 6,192 controls
]
African unspecified UKB
PSS004462
[
  • 56 cases
  • , 1,648 controls
]
East Asian UKB
PSS004463
[
  • 1,688 cases
  • , 23,217 controls
]
European non-white British ancestry UKB
PSS004464
[
  • 425 cases
  • , 7,406 controls
]
South Asian UKB
PSS004465
[
  • 6,097 cases
  • , 61,328 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004486
[
  • 5 cases
  • , 6,492 controls
]
African unspecified UKB
PSS004487
[
  • 2 cases
  • , 1,702 controls
]
East Asian UKB
PSS004488
[
  • 79 cases
  • , 24,826 controls
]
European non-white British ancestry UKB
PSS004489
[
  • 14 cases
  • , 7,817 controls
]
South Asian UKB
PSS004490
[
  • 268 cases
  • , 67,157 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004491
[
  • 118 cases
  • , 6,379 controls
]
African unspecified UKB
PSS004492
[
  • 18 cases
  • , 1,686 controls
]
East Asian UKB
PSS004493
[
  • 399 cases
  • , 24,506 controls
]
European non-white British ancestry UKB
PSS004494
[
  • 194 cases
  • , 7,637 controls
]
South Asian UKB
PSS004495
[
  • 1,301 cases
  • , 66,124 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004551
[
  • 72 cases
  • , 6,425 controls
]
African unspecified UKB
PSS004552
[
  • 77 cases
  • , 24,828 controls
]
European non-white British ancestry UKB
PSS004553
[
  • 72 cases
  • , 7,759 controls
]
South Asian UKB
PSS004554
[
  • 227 cases
  • , 67,198 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS000960 Cases were individuals with systemic lupus erythematosus.
[
  • 910 cases
  • , 430 controls
]
European NR
PSS000961 Cases were individuals with systemic lupus erythematosus.
[
  • 2,354 cases
  • , 5,379 controls
]
European NR
PSS000962 Cases were individuals with systemic lupus erythematosus.
[
  • 406 cases
  • , 706 controls
]
European NR
PSS000963 Cases were individuals with systemic lupus erythematosus.
[
  • 1,604 cases
  • , 985 controls
]
East Asian
(Han Chinese)
NR
PSS004627
[
  • 407 cases
  • , 6,090 controls
]
African unspecified UKB
PSS004628
[
  • 36 cases
  • , 1,668 controls
]
East Asian UKB
PSS004629
[
  • 1,244 cases
  • , 23,661 controls
]
European non-white British ancestry UKB
PSS004630
[
  • 538 cases
  • , 7,293 controls
]
South Asian UKB
PSS004631
[
  • 4,088 cases
  • , 63,337 controls
]
European white British ancestry UKB Testing cohort (heldout set)