Trait: disorder of pharynx

Trait Information
Identifier MONDO_0020592
Description A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma. [NCIT: C26850]
Trait category
Other trait
Synonyms 7 synonyms
  • chordate pharynx disease
  • chordate pharynx disease or disorder
  • disease of chordate pharynx
  • disease or disorder of chordate pharynx
  • disorder of chordate pharynx
  • pharyngeal disease
  • pharyngeal disorder
Child trait(s) 4 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 "disorder of pharynx" 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
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
PGS002291
(PRS12_NPC)
 PGP000320 |
He YQ et al. Nat Commun (2022)
 Nasopharyngeal carcinoma nasopharyngeal neoplasm 12
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002291/ScoringFiles/PGS002291.txt.gz
PGS012588
(PRS_HNC_OPC)
 PGP000822 |
Lee YC et al. BMC Med (2024)
 Oropharynx cancer oropharynx cancer 972,182
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012588/ScoringFiles/PGS012588.txt.gz
PGS018470
(TPMI_149.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of nasopharynx malignant tumor of nasopharynx 211
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018470/ScoringFiles/PGS018470.txt.gz
PGS018471
(TPMI_149.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of nasopharynx malignant tumor of nasopharynx 45,670
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018471/ScoringFiles/PGS018471.txt.gz
PGS018472
(TPMI_149.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of nasopharynx malignant tumor of nasopharynx 10,449
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018472/ScoringFiles/PGS018472.txt.gz
PGS018473
(TPMI_149.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of nasopharynx malignant tumor of nasopharynx 983,776
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018473/ScoringFiles/PGS018473.txt.gz
PGS018474
(TPMI_149.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of nasopharynx malignant tumor of nasopharynx 1,005,312
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018474/ScoringFiles/PGS018474.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 —
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.
PPM013010 PGS002291
(PRS12_NPC)
 PSS009646|
East Asian Ancestry|
2,893 individuals
 PGP000320 |
He YQ et al. Nat Commun (2022)
 Reported Trait: Nasopharyngeal carcinoma — AUROC: 0.64 — — —
PPM013011 PGS002291
(PRS12_NPC)
 PSS009646|
East Asian Ancestry|
2,893 individuals
 PGP000320 |
He YQ et al. Nat Commun (2022)
 Reported Trait: Nasopharyngeal carcinoma — AUROC: 0.69 — Family history of NPC —
PPM022453 PGS002291
(PRS12_NPC)
 PSS011948|
East Asian Ancestry|
4,804 individuals
 PGP000714 |
Diao H et al. J Med Virol (2023)
|Ext.		 Reported Trait: Nasopharyngeal carcinoma — — Odds ratio (OR, high vs low tertile): 2.57 [2.28, 2.9] — —
PPM022454 PGS002291
(PRS12_NPC)
 PSS011948|
East Asian Ancestry|
4,804 individuals
 PGP000714 |
Diao H et al. J Med Virol (2023)
|Ext.		 Reported Trait: Nasopharyngeal carcinoma x VCA-IgA interaction — — Odds ratio (OR, positive VCA-IgA and high PRS vs. negative VCA-IgA and low PRS): 257.96 [178.2, 386.23]
Synergy index (SI): 3.1 [2.17, 4.44]		 — —
PPM030761 PGS012588
(PRS_HNC_OPC)
 PSS012283|
Multi-ancestry (including European)|
37,901 individuals
 PGP000822 |
Lee YC et al. BMC Med (2024)
 Reported Trait: Oropharynx cancer OR: 1.24 [1.08, 1.42] — — age, sex, ethnicity, and PC 1 to 10 —
PPM030757 PGS012588
(PRS_HNC_OPC)
 PSS012284|
European Ancestry|
307,295 individuals
 PGP000822 |
Lee YC et al. BMC Med (2024)
 Reported Trait: Oropharynx cancer OR: 1.09 [1.02, 1.17] — — age, sex, genotype array, and PC 1 to 10 —
PPM036652 PGS018470
(TPMI_149.2_Lassosum2)
 PSS012368|
East Asian Ancestry|
19,070 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of nasopharynx — AUROC: 0.7073 R²: 0.01637 sex, age, array, PCs 1-10 —
PPM036653 PGS018471
(TPMI_149.2_LDpred2)
 PSS012367|
East Asian Ancestry|
19,070 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of nasopharynx — AUROC: 0.71186 R²: 0.01717 sex, age, array, PCs 1-10 —
PPM036654 PGS018472
(TPMI_149.2_MegaPRS)
 PSS012369|
East Asian Ancestry|
19,070 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of nasopharynx — AUROC: 0.69527 R²: 0.01463 sex, age, array, PCs 1-10 —
PPM036655 PGS018473
(TPMI_149.2_PRS-CS)
 PSS012370|
East Asian Ancestry|
19,070 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of nasopharynx — AUROC: 0.70955 R²: 0.0161 sex, age, array, PCs 1-10 —
PPM036656 PGS018474
(TPMI_149.2_SBayesR)
 PSS012371|
East Asian Ancestry|
19,070 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of nasopharynx — AUROC: 0.69866 R²: 0.01489 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 —
PSS009646 — —
[
  • 1,304 cases
  • , 1,589 controls
]
 — East Asian — NR —
PSS011948 — —
[
  • 2,393 cases
  • , 2,411 controls
]
 — East Asian — EPI-NPC-2005, NPCGEE —
PSS012283 — —
[
  • 231 cases
  • , 37,670 controls
]
 — European, African American or Afro-Caribbean — PMB —
PSS012284 — —
[
  • 556 cases
  • , 306,739 controls
]
 — European — UKB —
PSS012368 147,C11 —
[
  • 211 cases
  • , 18,859 controls
]
,
45.15 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012367 147,C11 —
[
  • 211 cases
  • , 18,859 controls
]
,
45.15 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012369 147,C11 —
[
  • 211 cases
  • , 18,859 controls
]
,
45.15 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS010150 — —
[
  • 26 cases
  • , 389 controls
]
 — European — UKB —
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 —
PSS012370 147,C11 —
[
  • 211 cases
  • , 18,859 controls
]
,
45.15 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012371 147,C11 —
[
  • 211 cases
  • , 18,859 controls
]
,
45.15 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —