Trait: mouth disorder

Trait Information
Identifier MONDO_0006858
Description A disease involving the mouth.
Trait category
Other trait
Synonyms 7 synonyms
  • disease of mouth
  • disease or disorder of mouth
  • disorder of mouth
  • mouth disease
  • mouth disease or disorder
  • oral disease
  • oral disorder
Child trait(s) 7 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 PGS for child terms of "mouth disorder" in the EFO hierarchy.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000081
(CC_Oral)
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Oral cavity and pharyngeal cancers oral cavity cancer,
pharynx cancer		 14
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000081/ScoringFiles/PGS000081.txt.gz
PGS000357
(PRSWEB_PHECODE145_C3-LIP-ORAL-PHARYNX_PT_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Oral cavity cancer oral cavity cancer 45
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000357/ScoringFiles/PGS000357.txt.gz
PGS000358
(PRSWEB_PHECODE145_UKBB-SAIGE-HRC-X145_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Oral cavity cancer oral cavity cancer 1,119,238
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000358/ScoringFiles/PGS000358.txt.gz
PGS000359
(PRSWEB_PHECODE145.2_C3-TONGUENAS_PRS-CS_MGI_20200608)
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Tongue cancer tongue neoplasm 931,954
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000359/ScoringFiles/PGS000359.txt.gz
PGS000792
(CC_Oral_IV)
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Oral cavity and pharyngeal cancers oral cavity cancer,
pharynx cancer		 14
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000792/ScoringFiles/PGS000792.txt.gz
PGS001308
(GBE_HC321)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Sjogren's syndrome/sicca syndrome Sjogren syndrome 7
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001308/ScoringFiles/PGS001308.txt.gz
PGS012587
(PRS_HNC_OC)
 PGP000822 |
Lee YC et al. BMC Med (2024)
 Oral cavity cancer oral cavity cancer 972,182
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012587/ScoringFiles/PGS012587.txt.gz
PGS018455
(TPMI_145_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Oral cavity cancer oral cavity cancer 1,019
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018455/ScoringFiles/PGS018455.txt.gz
PGS018456
(TPMI_145_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Oral cavity cancer oral cavity cancer 939,827
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018456/ScoringFiles/PGS018456.txt.gz
PGS018457
(TPMI_145_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Oral cavity cancer oral cavity cancer 17,831
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018457/ScoringFiles/PGS018457.txt.gz
PGS018458
(TPMI_145_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Oral cavity cancer oral cavity cancer 983,776
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018458/ScoringFiles/PGS018458.txt.gz
PGS018459
(TPMI_145_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Oral cavity cancer oral cavity cancer 1,006,843
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018459/ScoringFiles/PGS018459.txt.gz
PGS018460
(TPMI_145.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Tongue cancer tongue cancer 11
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018460/ScoringFiles/PGS018460.txt.gz
PGS018461
(TPMI_145.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Tongue cancer tongue cancer 34,059
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018461/ScoringFiles/PGS018461.txt.gz
PGS018462
(TPMI_145.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Tongue cancer tongue cancer 570,182
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018462/ScoringFiles/PGS018462.txt.gz
PGS018463
(TPMI_145.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Tongue cancer tongue cancer 983,776
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018463/ScoringFiles/PGS018463.txt.gz
PGS018464
(TPMI_145.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Tongue cancer tongue cancer 1,003,968
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018464/ScoringFiles/PGS018464.txt.gz
PGS019300
(TPMI_523_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingival and periodontal diseases tooth disorder 798,545
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019300/ScoringFiles/PGS019300.txt.gz
PGS019301
(TPMI_523_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingival and periodontal diseases tooth disorder 939,885
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019301/ScoringFiles/PGS019301.txt.gz
PGS019302
(TPMI_523_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingival and periodontal diseases tooth disorder 25,354
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019302/ScoringFiles/PGS019302.txt.gz
PGS019303
(TPMI_523_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingival and periodontal diseases tooth disorder 983,820
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019303/ScoringFiles/PGS019303.txt.gz
PGS019304
(TPMI_523_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingival and periodontal diseases tooth disorder 937,449
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019304/ScoringFiles/PGS019304.txt.gz
PGS019305
(TPMI_523.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingivitis gingivitis 38,420
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019305/ScoringFiles/PGS019305.txt.gz
PGS019306
(TPMI_523.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingivitis gingivitis 939,855
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019306/ScoringFiles/PGS019306.txt.gz
PGS019307
(TPMI_523.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingivitis gingivitis 28,584
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019307/ScoringFiles/PGS019307.txt.gz
PGS019308
(TPMI_523.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingivitis gingivitis 983,793
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019308/ScoringFiles/PGS019308.txt.gz
PGS019309
(TPMI_523.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Gingivitis gingivitis 989,009
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019309/ScoringFiles/PGS019309.txt.gz
PGS019315
(TPMI_526_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Diseases of the jaws jaw disease 477,467
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019315/ScoringFiles/PGS019315.txt.gz
PGS019316
(TPMI_526_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Diseases of the jaws jaw disease 939,803
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019316/ScoringFiles/PGS019316.txt.gz
PGS019317
(TPMI_526_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Diseases of the jaws jaw disease 25,953
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019317/ScoringFiles/PGS019317.txt.gz
PGS019318
(TPMI_526_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Diseases of the jaws jaw disease 983,750
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019318/ScoringFiles/PGS019318.txt.gz
PGS019319
(TPMI_526_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Diseases of the jaws jaw disease 1,003,540
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019319/ScoringFiles/PGS019319.txt.gz
PGS019645
(TPMI_709.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sicca syndrome Sjogren syndrome 1,224
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019645/ScoringFiles/PGS019645.txt.gz
PGS019646
(TPMI_709.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sicca syndrome Sjogren syndrome 939,810
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019646/ScoringFiles/PGS019646.txt.gz
PGS019647
(TPMI_709.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sicca syndrome Sjogren syndrome 49,185
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019647/ScoringFiles/PGS019647.txt.gz
PGS019648
(TPMI_709.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sicca syndrome Sjogren syndrome 983,765
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019648/ScoringFiles/PGS019648.txt.gz
PGS019649
(TPMI_709.2_PRSmix+)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sicca syndrome Sjogren syndrome 1,071,405
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019649/ScoringFiles/PGS019649.txt.gz
PGS019650
(TPMI_709.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Sicca syndrome Sjogren syndrome 202,225
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019650/ScoringFiles/PGS019650.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
PPM000201 PGS000081
(CC_Oral)
 PSS000120|
European Ancestry|
411,577 individuals
 PGP000050 |
Graff RE et al. Nat Commun (2021)
 Reported Trait: Oral cavity and pharyngeal cancers OR: 1.08 [1.02, 1.14] — — Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM002047 PGS000081
(CC_Oral)
 PSS001020|
European Ancestry|
391,479 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
|Ext.		 Reported Trait: Incident oral cavity and pharyngeal cancer HR: 1.11 [1.01, 1.21] AUROC: 0.702
C-index: 0.686 (0.015)		 — Age at assessment, sex, genotyping array, PCs(1-15), weekly alcohol intake, cigarettes per day, years of smoking, smoing status (never vs. former vs. current) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM017173 PGS000081
(CC_Oral)
 PSS010150|
European Ancestry|
415 individuals
 PGP000443 |
Byrne S et al. Int J Epidemiol (2023)
|Ext.		 Reported Trait: Oral cavity and pharyngeal cancers HR: 1.03 [0.94, 1.14] — — age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates —
PPM001042 PGS000357
(PRSWEB_PHECODE145_C3-LIP-ORAL-PHARYNX_PT_MGI_20200608)
 PSS000535|
European Ancestry|
6,328 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of mouth OR: 1.111 [1.021, 1.208]
β: 0.105 (0.0427)		 AUROC: 0.519 [0.498, 0.542] Nagelkerke's Pseudo-R²: 0.0021
Brier score: 0.0829
Odds Ratio (OR, top 1% vs. Rest): 1.26 [0.585, 2.73]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE145_C3-LIP-ORAL-PHARYNX_PT_MGI_20200608
PPM001043 PGS000358
(PRSWEB_PHECODE145_UKBB-SAIGE-HRC-X145_PRS-CS_MGI_20200608)
 PSS000535|
European Ancestry|
6,328 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of mouth OR: 1.116 [1.024, 1.216]
β: 0.11 (0.0438)		 AUROC: 0.528 [0.502, 0.552] Nagelkerke's Pseudo-R²: 0.00207
Brier score: 0.0829
Odds Ratio (OR, top 1% vs. Rest): 1.63 [0.812, 3.26]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE145_UKBB-SAIGE-HRC-X145_PRS-CS_MGI_20200608
PPM001044 PGS000359
(PRSWEB_PHECODE145.2_C3-TONGUENAS_PRS-CS_MGI_20200608)
 PSS000534|
European Ancestry|
2,841 individuals
 PGP000118 |
Fritsche LG et al. Am J Hum Genet (2020)
 Reported Trait: Cancer of tongue OR: 1.142 [1.006, 1.297]
β: 0.133 (0.0647)		 AUROC: 0.538 [0.501, 0.575] Nagelkerke's Pseudo-R²: 0.00325
Brier score: 0.0827
Odds Ratio (OR, top 1% vs. Rest): 1.69 [0.61, 4.71]		 age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE145.2_C3-TONGUENAS_PRS-CS_MGI_20200608
PPM002063 PGS000792
(CC_Oral_IV)
 PSS001020|
European Ancestry|
391,479 individuals
 PGP000186 |
Kachuri L et al. Nat Commun (2020)
 Reported Trait: Incident oral cavity and pharyngeal cancer HR: 1.12 [1.02, 1.23] AUROC: 0.702
C-index: 0.687 (0.015)		 R²: 0.356 Age at assessment, sex, genotyping array, PCs(1-15), weekly alcohol intake, cigarettes per day, years of smoking, smoing status (never vs. former vs. current) C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years.
PPM009034 PGS001308
(GBE_HC321)
 PSS004437|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Sjogren's syndrome/sicca syndrome — AUROC: 0.79846 [0.71474, 0.88218] R²: 0.07345
Incremental AUROC (full-covars): 0.0079
PGS R2 (no covariates): 0.01471
PGS AUROC (no covariates): 0.59027 [0.45551, 0.72504]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009035 PGS001308
(GBE_HC321)
 PSS004438|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Sjogren's syndrome/sicca syndrome — AUROC: 0.75824 [0.55089, 0.96558] R²: 0.05686
Incremental AUROC (full-covars): 0.00691
PGS R2 (no covariates): 0.0091
PGS AUROC (no covariates): 0.69794 [0.63241, 0.76347]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009036 PGS001308
(GBE_HC321)
 PSS004439|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Sjogren's syndrome/sicca syndrome — AUROC: 0.77174 [0.71988, 0.82361] R²: 0.07435
Incremental AUROC (full-covars): 0.01461
PGS R2 (no covariates): 0.01453
PGS AUROC (no covariates): 0.65693 [0.58901, 0.72485]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009037 PGS001308
(GBE_HC321)
 PSS004440|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Sjogren's syndrome/sicca syndrome — AUROC: 0.8014 [0.74455, 0.85826] R²: 0.08893
Incremental AUROC (full-covars): 0.00953
PGS R2 (no covariates): 0.03189
PGS AUROC (no covariates): 0.61034 [0.48809, 0.73259]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009038 PGS001308
(GBE_HC321)
 PSS004441|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Sjogren's syndrome/sicca syndrome — AUROC: 0.73313 [0.69647, 0.76978] R²: 0.04771
Incremental AUROC (full-covars): 0.01551
PGS R2 (no covariates): 0.01074
PGS AUROC (no covariates): 0.60303 [0.55292, 0.65315]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM030756 PGS012587
(PRS_HNC_OC)
 PSS012282|
European Ancestry|
307,595 individuals
 PGP000822 |
Lee YC et al. BMC Med (2024)
 Reported Trait: Oral cavity cancer OR: 1.2 [1.1, 1.31] — — age, sex, genotype array, and PC 1 to 10 —
PPM036637 PGS018455
(TPMI_145_Lassosum2)
 PSS012363|
East Asian Ancestry|
19,219 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of mouth — AUROC: 0.70787 R²: 0.03129 sex, age, array, PCs 1-10 —
PPM036638 PGS018456
(TPMI_145_LDpred2)
 PSS012362|
East Asian Ancestry|
19,219 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of mouth — AUROC: 0.71056 R²: 0.03205 sex, age, array, PCs 1-10 —
PPM036639 PGS018457
(TPMI_145_MegaPRS)
 PSS012364|
East Asian Ancestry|
19,219 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of mouth — AUROC: 0.71117 R²: 0.03213 sex, age, array, PCs 1-10 —
PPM036640 PGS018458
(TPMI_145_PRS-CS)
 PSS012365|
East Asian Ancestry|
19,219 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of mouth — AUROC: 0.7103 R²: 0.03215 sex, age, array, PCs 1-10 —
PPM036641 PGS018459
(TPMI_145_SBayesR)
 PSS012366|
East Asian Ancestry|
19,219 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of mouth — AUROC: 0.71212 R²: 0.03258 sex, age, array, PCs 1-10 —
PPM036642 PGS018460
(TPMI_145.2_Lassosum2)
 PSS012358|
East Asian Ancestry|
19,060 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of tongue — AUROC: 0.68616 R²: 0.01171 sex, age, array, PCs 1-10 —
PPM036643 PGS018461
(TPMI_145.2_LDpred2)
 PSS012357|
East Asian Ancestry|
19,060 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of tongue — AUROC: 0.68599 R²: 0.01168 sex, age, array, PCs 1-10 —
PPM036644 PGS018462
(TPMI_145.2_MegaPRS)
 PSS012359|
East Asian Ancestry|
19,060 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of tongue — AUROC: 0.68604 R²: 0.0117 sex, age, array, PCs 1-10 —
PPM036645 PGS018463
(TPMI_145.2_PRS-CS)
 PSS012360|
East Asian Ancestry|
19,060 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of tongue — AUROC: 0.68622 R²: 0.0117 sex, age, array, PCs 1-10 —
PPM036646 PGS018464
(TPMI_145.2_SBayesR)
 PSS012361|
East Asian Ancestry|
19,060 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of tongue — AUROC: 0.68563 R²: 0.01173 sex, age, array, PCs 1-10 —
PPM037482 PGS019300
(TPMI_523_Lassosum2)
 PSS013213|
East Asian Ancestry|
18,461 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingival and periodontal diseases — AUROC: 0.657 R²: 0.08492 sex, age, array, PCs 1-10 —
PPM037483 PGS019301
(TPMI_523_LDpred2)
 PSS013212|
East Asian Ancestry|
18,461 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingival and periodontal diseases — AUROC: 0.6568 R²: 0.0849 sex, age, array, PCs 1-10 —
PPM037484 PGS019302
(TPMI_523_MegaPRS)
 PSS013214|
East Asian Ancestry|
18,461 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingival and periodontal diseases — AUROC: 0.656 R²: 0.08408 sex, age, array, PCs 1-10 —
PPM037485 PGS019303
(TPMI_523_PRS-CS)
 PSS013215|
East Asian Ancestry|
18,461 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingival and periodontal diseases — AUROC: 0.65669 R²: 0.08483 sex, age, array, PCs 1-10 —
PPM037486 PGS019304
(TPMI_523_SBayesR)
 PSS013216|
East Asian Ancestry|
18,461 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingival and periodontal diseases — AUROC: 0.65756 R²: 0.08524 sex, age, array, PCs 1-10 —
PPM037487 PGS019305
(TPMI_523.1_Lassosum2)
 PSS013203|
East Asian Ancestry|
17,094 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingivitis — AUROC: 0.709 R²: 0.0658 sex, age, array, PCs 1-10 —
PPM037488 PGS019306
(TPMI_523.1_LDpred2)
 PSS013202|
East Asian Ancestry|
17,094 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingivitis — AUROC: 0.70895 R²: 0.06566 sex, age, array, PCs 1-10 —
PPM037489 PGS019307
(TPMI_523.1_MegaPRS)
 PSS013204|
East Asian Ancestry|
17,094 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingivitis — AUROC: 0.70904 R²: 0.06565 sex, age, array, PCs 1-10 —
PPM037490 PGS019308
(TPMI_523.1_PRS-CS)
 PSS013205|
East Asian Ancestry|
17,094 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingivitis — AUROC: 0.70898 R²: 0.06564 sex, age, array, PCs 1-10 —
PPM037491 PGS019309
(TPMI_523.1_SBayesR)
 PSS013206|
East Asian Ancestry|
17,094 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Gingivitis — AUROC: 0.7094 R²: 0.06585 sex, age, array, PCs 1-10 —
PPM037497 PGS019315
(TPMI_526_Lassosum2)
 PSS013223|
East Asian Ancestry|
16,830 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Diseases of the jaws — AUROC: 0.64385 R²: 0.01103 sex, age, array, PCs 1-10 —
PPM037498 PGS019316
(TPMI_526_LDpred2)
 PSS013222|
East Asian Ancestry|
16,830 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Diseases of the jaws — AUROC: 0.64917 R²: 0.01152 sex, age, array, PCs 1-10 —
PPM037499 PGS019317
(TPMI_526_MegaPRS)
 PSS013224|
East Asian Ancestry|
16,830 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Diseases of the jaws — AUROC: 0.6412 R²: 0.01096 sex, age, array, PCs 1-10 —
PPM037500 PGS019318
(TPMI_526_PRS-CS)
 PSS013225|
East Asian Ancestry|
16,830 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Diseases of the jaws — AUROC: 0.64493 R²: 0.01115 sex, age, array, PCs 1-10 —
PPM037501 PGS019319
(TPMI_526_SBayesR)
 PSS013226|
East Asian Ancestry|
16,830 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Diseases of the jaws — AUROC: 0.64695 R²: 0.01142 sex, age, array, PCs 1-10 —
PPM037827 PGS019645
(TPMI_709.2_Lassosum2)
 PSS013542|
East Asian Ancestry|
18,012 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sicca syndrome — AUROC: 0.77927 R²: 0.24978 sex, age, array, PCs 1-10 —
PPM037828 PGS019646
(TPMI_709.2_LDpred2)
 PSS013541|
East Asian Ancestry|
18,012 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sicca syndrome — AUROC: 0.78396 R²: 0.25747 sex, age, array, PCs 1-10 —
PPM037829 PGS019647
(TPMI_709.2_MegaPRS)
 PSS013543|
East Asian Ancestry|
18,012 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sicca syndrome — AUROC: 0.77815 R²: 0.24514 sex, age, array, PCs 1-10 —
PPM037830 PGS019648
(TPMI_709.2_PRS-CS)
 PSS013544|
East Asian Ancestry|
18,012 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sicca syndrome — AUROC: 0.78347 R²: 0.25531 sex, age, array, PCs 1-10 —
PPM037831 PGS019649
(TPMI_709.2_PRSmix+)
 PSS013545|
East Asian Ancestry|
18,012 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sicca syndrome — AUROC: 0.78759 R²: 0.26384 sex, age, array, PCs 1-10 —
PPM037832 PGS019650
(TPMI_709.2_SBayesR)
 PSS013546|
East Asian Ancestry|
18,012 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Sicca syndrome — AUROC: 0.77877 R²: 0.2473 sex, age, array, PCs 1-10 —

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
PSS000120 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 20010, 20020, 20030, 20040, 20050, 20060, 20070, 20080, 20090, and 20100 —
[
  • 1,223 cases
  • , 410,354 controls
]
,
46.0 % Male samples
 Mean = 58.0 years European — GERA, UKB —
PSS013202 523.0, 523.1, 523.2,K05.0, K05.1, K06.0 —
[
  • 472 cases
  • , 16,622 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013203 523.0, 523.1, 523.2,K05.0, K05.1, K06.0 —
[
  • 472 cases
  • , 16,622 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013204 523.0, 523.1, 523.2,K05.0, K05.1, K06.0 —
[
  • 472 cases
  • , 16,622 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013205 523.0, 523.1, 523.2,K05.0, K05.1, K06.0 —
[
  • 472 cases
  • , 16,622 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004437 — —
[
  • 17 cases
  • , 6,480 controls
]
 — African unspecified — UKB —
PSS004438 — —
[
  • 4 cases
  • , 1,700 controls
]
 — East Asian — UKB —
PSS004439 — —
[
  • 58 cases
  • , 24,847 controls
]
 — European non-white British ancestry UKB —
PSS004440 — —
[
  • 29 cases
  • , 7,802 controls
]
 — South Asian — UKB —
PSS004441 — —
[
  • 135 cases
  • , 67,290 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS013206 523.0, 523.1, 523.2,K05.0, K05.1, K06.0 —
[
  • 472 cases
  • , 16,622 controls
]
,
45.75 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013212 522.4, 522.6, 523,K03.6, K04.4, K04.5, K05.0, K05.1, K05.2, K05.3, K05.4, K05.5, K05.6, K06.0, K06.1, K06.2, K06.8, K06.9 —
[
  • 1,839 cases
  • , 16,622 controls
]
,
46.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013213 522.4, 522.6, 523,K03.6, K04.4, K04.5, K05.0, K05.1, K05.2, K05.3, K05.4, K05.5, K05.6, K06.0, K06.1, K06.2, K06.8, K06.9 —
[
  • 1,839 cases
  • , 16,622 controls
]
,
46.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013214 522.4, 522.6, 523,K03.6, K04.4, K04.5, K05.0, K05.1, K05.2, K05.3, K05.4, K05.5, K05.6, K06.0, K06.1, K06.2, K06.8, K06.9 —
[
  • 1,839 cases
  • , 16,622 controls
]
,
46.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013215 522.4, 522.6, 523,K03.6, K04.4, K04.5, K05.0, K05.1, K05.2, K05.3, K05.4, K05.5, K05.6, K06.0, K06.1, K06.2, K06.8, K06.9 —
[
  • 1,839 cases
  • , 16,622 controls
]
,
46.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013216 522.4, 522.6, 523,K03.6, K04.4, K04.5, K05.0, K05.1, K05.2, K05.3, K05.4, K05.5, K05.6, K06.0, K06.1, K06.2, K06.8, K06.9 —
[
  • 1,839 cases
  • , 16,622 controls
]
,
46.14 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013222 524.0, 524.1, 524.51, 524.6, 526, 784.92,K09.0, K09.1, M26.0, M26.1, M26.51, M26.6, M27.0, M27.1, M27.2, M27.3, M27.4, M27.5, M27.8, M27.9, R68.84 —
[
  • 208 cases
  • , 16,622 controls
]
,
45.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013223 524.0, 524.1, 524.51, 524.6, 526, 784.92,K09.0, K09.1, M26.0, M26.1, M26.51, M26.6, M27.0, M27.1, M27.2, M27.3, M27.4, M27.5, M27.8, M27.9, R68.84 —
[
  • 208 cases
  • , 16,622 controls
]
,
45.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013224 524.0, 524.1, 524.51, 524.6, 526, 784.92,K09.0, K09.1, M26.0, M26.1, M26.51, M26.6, M27.0, M27.1, M27.2, M27.3, M27.4, M27.5, M27.8, M27.9, R68.84 —
[
  • 208 cases
  • , 16,622 controls
]
,
45.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013225 524.0, 524.1, 524.51, 524.6, 526, 784.92,K09.0, K09.1, M26.0, M26.1, M26.51, M26.6, M27.0, M27.1, M27.2, M27.3, M27.4, M27.5, M27.8, M27.9, R68.84 —
[
  • 208 cases
  • , 16,622 controls
]
,
45.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013226 524.0, 524.1, 524.51, 524.6, 526, 784.92,K09.0, K09.1, M26.0, M26.1, M26.51, M26.6, M27.0, M27.1, M27.2, M27.3, M27.4, M27.5, M27.8, M27.9, R68.84 —
[
  • 208 cases
  • , 16,622 controls
]
,
45.47 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012282 — —
[
  • 856 cases
  • , 306,739 controls
]
 — European — UKB —
PSS012357 141, V10.01,C01, C02, Z85.810 —
[
  • 201 cases
  • , 18,859 controls
]
,
45.19 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012358 141, V10.01,C01, C02, Z85.810 —
[
  • 201 cases
  • , 18,859 controls
]
,
45.19 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012359 141, V10.01,C01, C02, Z85.810 —
[
  • 201 cases
  • , 18,859 controls
]
,
45.19 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012360 141, V10.01,C01, C02, Z85.810 —
[
  • 201 cases
  • , 18,859 controls
]
,
45.19 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012361 141, V10.01,C01, C02, Z85.810 —
[
  • 201 cases
  • , 18,859 controls
]
,
45.19 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012362 140, 141, 142, 143, 144, 145, 230.0, V10.01,C00, C01, C02, C03, C04, C05, C06, C07, C08, D00.0, Z85.81 —
[
  • 360 cases
  • , 18,859 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012363 140, 141, 142, 143, 144, 145, 230.0, V10.01,C00, C01, C02, C03, C04, C05, C06, C07, C08, D00.0, Z85.81 —
[
  • 360 cases
  • , 18,859 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012364 140, 141, 142, 143, 144, 145, 230.0, V10.01,C00, C01, C02, C03, C04, C05, C06, C07, C08, D00.0, Z85.81 —
[
  • 360 cases
  • , 18,859 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012365 140, 141, 142, 143, 144, 145, 230.0, V10.01,C00, C01, C02, C03, C04, C05, C06, C07, C08, D00.0, Z85.81 —
[
  • 360 cases
  • , 18,859 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012366 140, 141, 142, 143, 144, 145, 230.0, V10.01,C00, C01, C02, C03, C04, C05, C06, C07, C08, D00.0, Z85.81 —
[
  • 360 cases
  • , 18,859 controls
]
,
45.51 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS010150 — —
[
  • 26 cases
  • , 389 controls
]
 — European — UKB —
PSS013541 710.2,M35.0 —
[
  • 1,032 cases
  • , 16,980 controls
]
,
46.5 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013542 710.2,M35.0 —
[
  • 1,032 cases
  • , 16,980 controls
]
,
46.5 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013543 710.2,M35.0 —
[
  • 1,032 cases
  • , 16,980 controls
]
,
46.5 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013544 710.2,M35.0 —
[
  • 1,032 cases
  • , 16,980 controls
]
,
46.5 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS000534 PheCode:145.2; ICD9CM:141.0, 141.1, 141.2, 141.3, 141.4, 141.5, 141.6, 141.8, 141.9, V10.01; ICD10CM:C01, C02, C02.0, C02.1, C02.2, C02.3, C02.4, C02.8, C02.9 —
[
  • 259 cases
  • , 2,582 controls
]
 — European — MGI —
PSS000535 PheCode:145; ICD9CM:140.0, 140.1, 140.3, 140.4, 140.5, 140.6, 140.8, 140.9, 141.0, 141.1, 141.2, 141.3, 141.4, 141.5, 141.6, 141.8, 141.9, 142.0, 142.1, 142.2, 142.8, 142.9, 143.0, 143.1, 143.8, 143.9, 144.0, 144.1, 144.8, 144.9, 145.0, 145.1, 145.2, 145.3, 145.4, 145.5, 145.6, 145.8, 145.9, 230.0, V10.01; ICD10CM:C00, C00.0, C00.1, C00.2, C00.3, C00.4, C00.5, C00.6, C00.8, C00.9, C01, C02, C02.0, C02.1, C02.2, C02.3, C02.4, C02.8, C02.9, C03, C03.0, C03.1, C03.9, C04, C04.0, C04.1, C04.8, C04.9, C05, C05.0, C05.1, C05.2, C05.8, C05.9, C06, C06.0, C06.1, C06.2, C06.8, C06.80, C06.89, C06.9, C07, C08, C08.0, C08.1, C08.9, D00.0, D00.00, D00.01, D00.02, D00.03, D00.04, D00.05, D00.06, D00.07, D00.08 —
[
  • 578 cases
  • , 5,750 controls
]
 — European — MGI —
PSS013545 710.2,M35.0 —
[
  • 1,032 cases
  • , 16,980 controls
]
,
46.5 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013546 710.2,M35.0 —
[
  • 1,032 cases
  • , 16,980 controls
]
,
46.5 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS001020 Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. —
[
  • 481 cases
  • , 390,998 controls
]
 — European — UKB —