Trait: nontoxic goiter

Trait Information
Identifier MONDO_0001658
Description Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. [NCIT: P378]
Trait category
Other disease
Synonyms 5 synonyms
  • euthyroid goiter
  • euthyroid goitre
  • non-toxic goiter
  • non-toxic simple goiter
  • nontoxic goiter
Mapped terms 5 mapped terms
  • DOID:13195
  • MEDGEN:113172
  • NCIT:C35271
  • SCTID:267369002
  • UMLS:C0221777

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)
PGS000928
(GBE_HC644)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Other non-toxic goitre (time-to-event) nontoxic goiter 170
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000928/ScoringFiles/PGS000928.txt.gz
PGS001814
(portability-PLR_241.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Nontoxic multinodular goiter multinodular goiter,
nontoxic goiter		 322
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001814/ScoringFiles/PGS001814.txt.gz
PGS002022
(portability-ldpred2_241.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Nontoxic multinodular goiter multinodular goiter,
nontoxic goiter		 375,470
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002022/ScoringFiles/PGS002022.txt.gz
PGS018655
(TPMI_241.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 327
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018655/ScoringFiles/PGS018655.txt.gz
PGS018656
(TPMI_241.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 215,680
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018656/ScoringFiles/PGS018656.txt.gz
PGS018657
(TPMI_241.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 561,432
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018657/ScoringFiles/PGS018657.txt.gz
PGS018658
(TPMI_241.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 983,778
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018658/ScoringFiles/PGS018658.txt.gz
PGS018659
(TPMI_241.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic uninodular goiter nontoxic goiter 1,006,150
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018659/ScoringFiles/PGS018659.txt.gz
PGS018660
(TPMI_241.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 610
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018660/ScoringFiles/PGS018660.txt.gz
PGS018661
(TPMI_241.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 275,929
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018661/ScoringFiles/PGS018661.txt.gz
PGS018662
(TPMI_241.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 45,575
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018662/ScoringFiles/PGS018662.txt.gz
PGS018663
(TPMI_241.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 983,819
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018663/ScoringFiles/PGS018663.txt.gz
PGS018664
(TPMI_241.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Nontoxic multinodular goiter nontoxic goiter 142,675
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018664/ScoringFiles/PGS018664.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
PPM007467 PGS000928
(GBE_HC644)
 PSS004560|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.72128 [0.66829, 0.77427] R²: 0.0605
Incremental AUROC (full-covars): 0.01397
PGS R2 (no covariates): 0.01481
PGS AUROC (no covariates): 0.60656 [0.54212, 0.67101]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007468 PGS000928
(GBE_HC644)
 PSS004561|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.6964 [0.60514, 0.78765] R²: 0.04766
Incremental AUROC (full-covars): 0.00791
PGS R2 (no covariates): 0.00213
PGS AUROC (no covariates): 0.559 [0.46259, 0.65542]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007469 PGS000928
(GBE_HC644)
 PSS004562|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.71135 [0.68228, 0.74042] R²: 0.0552
Incremental AUROC (full-covars): 0.0365
PGS R2 (no covariates): 0.01651
PGS AUROC (no covariates): 0.62112 [0.58564, 0.6566]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007470 PGS000928
(GBE_HC644)
 PSS004563|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.77727 [0.73439, 0.82016] R²: 0.09335
Incremental AUROC (full-covars): 0.02392
PGS R2 (no covariates): 0.01984
PGS AUROC (no covariates): 0.62519 [0.56312, 0.68726]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007471 PGS000928
(GBE_HC644)
 PSS004564|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other non-toxic goitre — AUROC: 0.72495 [0.70529, 0.74461] R²: 0.05905
Incremental AUROC (full-covars): 0.03129
PGS R2 (no covariates): 0.01271
PGS AUROC (no covariates): 0.60048 [0.57499, 0.62598]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009413 PGS001814
(portability-PLR_241.2)
 PSS009058|
European Ancestry|
3,930 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0146 [-0.0168, 0.0459] sex, age, birth date, deprivation index, 16 PCs —
PPM009414 PGS001814
(portability-PLR_241.2)
 PSS008612|
European Ancestry|
6,363 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0205 [-0.0041, 0.0451] sex, age, birth date, deprivation index, 16 PCs —
PPM009415 PGS001814
(portability-PLR_241.2)
 PSS008388|
Greater Middle Eastern Ancestry|
1,140 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0211 [-0.0375, 0.0796] sex, age, birth date, deprivation index, 16 PCs —
PPM009416 PGS001814
(portability-PLR_241.2)
 PSS008166|
South Asian Ancestry|
5,927 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0654 [0.0399, 0.0907] sex, age, birth date, deprivation index, 16 PCs —
PPM009417 PGS001814
(portability-PLR_241.2)
 PSS007953|
East Asian Ancestry|
1,744 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.025 [-0.0222, 0.0722] sex, age, birth date, deprivation index, 16 PCs —
PPM009418 PGS001814
(portability-PLR_241.2)
 PSS007734|
African Ancestry|
2,378 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0403 [0.0, 0.0806] sex, age, birth date, deprivation index, 16 PCs —
PPM009419 PGS001814
(portability-PLR_241.2)
 PSS008837|
African Ancestry|
3,830 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0442 [0.0125, 0.0759] sex, age, birth date, deprivation index, 16 PCs —
PPM009412 PGS001814
(portability-PLR_241.2)
 PSS009284|
European Ancestry|
19,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0277 [0.0135, 0.0419] sex, age, birth date, deprivation index, 16 PCs —
PPM038920 PGS001814
(portability-PLR_241.2)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.01394 — — — —
PPM011050 PGS002022
(portability-ldpred2_241.2)
 PSS009284|
European Ancestry|
19,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.024 [0.0098, 0.0382] sex, age, birth date, deprivation index, 16 PCs —
PPM011051 PGS002022
(portability-ldpred2_241.2)
 PSS009058|
European Ancestry|
3,930 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0213 [-0.01, 0.0527] sex, age, birth date, deprivation index, 16 PCs —
PPM011052 PGS002022
(portability-ldpred2_241.2)
 PSS008612|
European Ancestry|
6,363 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.019 [-0.0056, 0.0436] sex, age, birth date, deprivation index, 16 PCs —
PPM011053 PGS002022
(portability-ldpred2_241.2)
 PSS008388|
Greater Middle Eastern Ancestry|
1,140 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0214 [-0.0372, 0.0799] sex, age, birth date, deprivation index, 16 PCs —
PPM011054 PGS002022
(portability-ldpred2_241.2)
 PSS008166|
South Asian Ancestry|
5,927 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0677 [0.0423, 0.0931] sex, age, birth date, deprivation index, 16 PCs —
PPM011055 PGS002022
(portability-ldpred2_241.2)
 PSS007953|
East Asian Ancestry|
1,744 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0096 [-0.0376, 0.0568] sex, age, birth date, deprivation index, 16 PCs —
PPM011056 PGS002022
(portability-ldpred2_241.2)
 PSS007734|
African Ancestry|
2,378 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0282 [-0.0122, 0.0685] sex, age, birth date, deprivation index, 16 PCs —
PPM011057 PGS002022
(portability-ldpred2_241.2)
 PSS008837|
African Ancestry|
3,830 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0496 [0.0179, 0.0813] sex, age, birth date, deprivation index, 16 PCs —
PPM038880 PGS002022
(portability-ldpred2_241.2)
 PSS013916|
European Ancestry|
425,240 individuals
 PGP000865 |
Bhatt IS et al. J Assoc Res Otolaryngol (2024)
|Ext.		 Reported Trait: Age-related hearing difficulty β: 0.01551 — — — —
PPM036837 PGS018655
(TPMI_241.1_Lassosum2)
 PSS012553|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.71869 R²: 0.01744 sex, age, array, PCs 1-10 —
PPM036838 PGS018656
(TPMI_241.1_LDpred2)
 PSS012552|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.71953 R²: 0.01769 sex, age, array, PCs 1-10 —
PPM036839 PGS018657
(TPMI_241.1_MegaPRS)
 PSS012554|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.71549 R²: 0.01662 sex, age, array, PCs 1-10 —
PPM036840 PGS018658
(TPMI_241.1_PRS-CS)
 PSS012555|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.71517 R²: 0.01683 sex, age, array, PCs 1-10 —
PPM036841 PGS018659
(TPMI_241.1_SBayesR)
 PSS012556|
East Asian Ancestry|
17,269 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic uninodular goiter — AUROC: 0.7192 R²: 0.01711 sex, age, array, PCs 1-10 —
PPM036842 PGS018660
(TPMI_241.2_Lassosum2)
 PSS012558|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.70696 R²: 0.02085 sex, age, array, PCs 1-10 —
PPM036843 PGS018661
(TPMI_241.2_LDpred2)
 PSS012557|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.7074 R²: 0.0212 sex, age, array, PCs 1-10 —
PPM036844 PGS018662
(TPMI_241.2_MegaPRS)
 PSS012559|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.69943 R²: 0.01753 sex, age, array, PCs 1-10 —
PPM036845 PGS018663
(TPMI_241.2_PRS-CS)
 PSS012560|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.70611 R²: 0.02061 sex, age, array, PCs 1-10 —
PPM036846 PGS018664
(TPMI_241.2_SBayesR)
 PSS012561|
East Asian Ancestry|
17,326 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Nontoxic multinodular goiter — AUROC: 0.70752 R²: 0.02113 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
PSS008388 — — 1,140 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009284 — — 19,043 individuals — European UK (+ Ireland) UKB —
PSS012552 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012553 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012554 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012555 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012556 241.0,E04.1 —
[
  • 189 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012557 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012558 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012559 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012560 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004560 — —
[
  • 84 cases
  • , 6,413 controls
]
 — African unspecified — UKB —
PSS004561 — —
[
  • 32 cases
  • , 1,672 controls
]
 — East Asian — UKB —
PSS004562 — —
[
  • 249 cases
  • , 24,656 controls
]
 — European non-white British ancestry UKB —
PSS004563 — —
[
  • 81 cases
  • , 7,750 controls
]
 — South Asian — UKB —
PSS004564 — —
[
  • 548 cases
  • , 66,877 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS012561 241.1,E01.1, E04.2 —
[
  • 246 cases
  • , 17,080 controls
]
,
49.46 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009058 — — 3,930 individuals — European Poland (NE Europe) UKB —
PSS008166 — — 5,927 individuals — South Asian India (South Asia) UKB —
PSS008837 — — 3,830 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007953 — — 1,744 individuals — East Asian China (East Asia) UKB —
PSS008612 — — 6,363 individuals — European Italy (South Europe) UKB —
PSS007734 — — 2,378 individuals — African American or Afro-Caribbean Carribean UKB —
PSS013916 — —
[
  • 111,243 cases
  • , 313,997 controls
]
,
46.21 % Male samples
 — European
(British, Irish)		 — UKB —