Trait: toxic multinodular goitre

Trait Information
Identifier MONDO_0001252
Description Nodular enlargement of the thyroid gland associated with hyperthyroidism. [NCIT: P378] [PMID: 33351415]
Trait category
Other trait
Synonyms 8 synonyms
  • MNG
  • Plummer disease
  • Plummer's disease
  • TMNG
  • Toxic goiter
  • Toxic goitre
  • toxic nodular goiter
  • toxic nodular goitre

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
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)
PGS018650
(TPMI_241_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic nodular goiter toxic multinodular goitre 2,717
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018650/ScoringFiles/PGS018650.txt.gz
PGS018651
(TPMI_241_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic nodular goiter toxic multinodular goitre 939,876
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018651/ScoringFiles/PGS018651.txt.gz
PGS018652
(TPMI_241_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic nodular goiter toxic multinodular goitre 457,716
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018652/ScoringFiles/PGS018652.txt.gz
PGS018653
(TPMI_241_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic nodular goiter toxic multinodular goitre 983,821
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018653/ScoringFiles/PGS018653.txt.gz
PGS018654
(TPMI_241_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic nodular goiter toxic multinodular goitre 94,850
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018654/ScoringFiles/PGS018654.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
PPM036832 PGS018650
(TPMI_241_Lassosum2)
 PSS012563|
East Asian Ancestry|
18,285 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic nodular goiter — AUROC: 0.73122 R²: 0.12994 sex, age, array, PCs 1-10 —
PPM036833 PGS018651
(TPMI_241_LDpred2)
 PSS012562|
East Asian Ancestry|
18,285 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic nodular goiter — AUROC: 0.73416 R²: 0.13359 sex, age, array, PCs 1-10 —
PPM036834 PGS018652
(TPMI_241_MegaPRS)
 PSS012564|
East Asian Ancestry|
18,285 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic nodular goiter — AUROC: 0.72435 R²: 0.11874 sex, age, array, PCs 1-10 —
PPM036835 PGS018653
(TPMI_241_PRS-CS)
 PSS012565|
East Asian Ancestry|
18,285 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic nodular goiter — AUROC: 0.73337 R²: 0.13292 sex, age, array, PCs 1-10 —
PPM036836 PGS018654
(TPMI_241_SBayesR)
 PSS012566|
East Asian Ancestry|
18,285 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic nodular goiter — AUROC: 0.73414 R²: 0.13319 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
PSS012562 241,E01.1, E04.1, E04.2, E04.8, E04.9 —
[
  • 1,205 cases
  • , 17,080 controls
]
,
47.92 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012563 241,E01.1, E04.1, E04.2, E04.8, E04.9 —
[
  • 1,205 cases
  • , 17,080 controls
]
,
47.92 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012564 241,E01.1, E04.1, E04.2, E04.8, E04.9 —
[
  • 1,205 cases
  • , 17,080 controls
]
,
47.92 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012565 241,E01.1, E04.1, E04.2, E04.8, E04.9 —
[
  • 1,205 cases
  • , 17,080 controls
]
,
47.92 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012566 241,E01.1, E04.1, E04.2, E04.8, E04.9 —
[
  • 1,205 cases
  • , 17,080 controls
]
,
47.92 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —