Trait: Graves disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004237
Description Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery. [GARD: 0006549]
Trait category
Immune system disorder
Synonyms 14 synonyms
  • Basedow disease
  • Basedow disease
  • Basedow's disease
  • Basedow's disease
  • Flajani-Basedow-Graves disease
  • Graves disease
  • Graves' disease
  • Graves' disease
  • Graves' hyperthyroidism
  • exophthalmic goiter
  • exophthalmic goitre
  • grave's disease
  • parry disease
  • toxic diffuse goiter
Child trait(s) Thyrotoxicosis

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 "Graves 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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001042
(GBE_HC645)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Thyrotoxicosis [hyperthyroidism] (time-to-event) Thyrotoxicosis 226
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001042/ScoringFiles/PGS001042.txt.gz
PGS001043
(GBE_HC55)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Hyperthyroidism, thyrotoxicosis hyperthyroidism,
Thyrotoxicosis		 69
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001043/ScoringFiles/PGS001043.txt.gz
PGS001815
(portability-PLR_242)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Thyrotoxicosis with or without goiter Thyrotoxicosis 280
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001815/ScoringFiles/PGS001815.txt.gz
PGS002023
(portability-ldpred2_242)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Thyrotoxicosis with or without goiter Thyrotoxicosis 279,385
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002023/ScoringFiles/PGS002023.txt.gz
PGS005264
(graves_disease_mixed_pt)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Graves' disease Graves disease 112
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005264/ScoringFiles/PGS005264.txt.gz
PGS005265
(graves_disease_mixed_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Graves' disease Graves disease 1,085,173
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005265/ScoringFiles/PGS005265.txt.gz
PGS005266
(graves_disease_eur_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Graves' disease Graves disease 1,085,170
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005266/ScoringFiles/PGS005266.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
PPM007968 PGS001042
(GBE_HC645)
 PSS004565|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE thyrotoxicosis [hyperthyroidism] — AUROC: 0.74292 [0.70274, 0.7831] R²: 0.0808
Incremental AUROC (full-covars): -0.001
PGS R2 (no covariates): 0.00441
PGS AUROC (no covariates): 0.55406 [0.50519, 0.60292]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007969 PGS001042
(GBE_HC645)
 PSS004566|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE thyrotoxicosis [hyperthyroidism] — AUROC: 0.64568 [0.56662, 0.72474] R²: 0.04341
Incremental AUROC (full-covars): 0.0279
PGS R2 (no covariates): 0.02341
PGS AUROC (no covariates): 0.6179 [0.53755, 0.69825]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007970 PGS001042
(GBE_HC645)
 PSS004567|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE thyrotoxicosis [hyperthyroidism] — AUROC: 0.69253 [0.66505, 0.72] R²: 0.0468
Incremental AUROC (full-covars): 0.03643
PGS R2 (no covariates): 0.01594
PGS AUROC (no covariates): 0.61209 [0.58178, 0.6424]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007971 PGS001042
(GBE_HC645)
 PSS004568|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE thyrotoxicosis [hyperthyroidism] — AUROC: 0.68899 [0.63846, 0.73951] R²: 0.04589
Incremental AUROC (full-covars): 0.03955
PGS R2 (no covariates): 0.01668
PGS AUROC (no covariates): 0.60594 [0.54869, 0.66319]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007972 PGS001042
(GBE_HC645)
 PSS004569|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE thyrotoxicosis [hyperthyroidism] — AUROC: 0.71296 [0.69708, 0.72884] R²: 0.05914
Incremental AUROC (full-covars): 0.04673
PGS R2 (no covariates): 0.02359
PGS AUROC (no covariates): 0.63392 [0.61562, 0.65223]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007973 PGS001043
(GBE_HC55)
 PSS004526|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hyperthyroidism/thyrotoxicosis — AUROC: 0.73999 [0.69812, 0.78186] R²: 0.07663
Incremental AUROC (full-covars): -0.00598
PGS R2 (no covariates): 0.00164
PGS AUROC (no covariates): 0.53513 [0.48316, 0.5871]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007974 PGS001043
(GBE_HC55)
 PSS004527|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hyperthyroidism/thyrotoxicosis — AUROC: 0.62359 [0.53601, 0.71117] R²: 0.03132
Incremental AUROC (full-covars): 0.0205
PGS R2 (no covariates): 0.01311
PGS AUROC (no covariates): 0.58858 [0.50442, 0.67274]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007975 PGS001043
(GBE_HC55)
 PSS004528|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hyperthyroidism/thyrotoxicosis — AUROC: 0.69729 [0.66674, 0.72784] R²: 0.04646
Incremental AUROC (full-covars): 0.03676
PGS R2 (no covariates): 0.01638
PGS AUROC (no covariates): 0.61845 [0.58525, 0.65166]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007976 PGS001043
(GBE_HC55)
 PSS004529|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hyperthyroidism/thyrotoxicosis — AUROC: 0.68797 [0.63675, 0.7392] R²: 0.04145
Incremental AUROC (full-covars): 0.04372
PGS R2 (no covariates): 0.01807
PGS AUROC (no covariates): 0.60983 [0.54762, 0.67204]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007977 PGS001043
(GBE_HC55)
 PSS004530|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hyperthyroidism/thyrotoxicosis — AUROC: 0.71366 [0.6965, 0.73082] R²: 0.0566
Incremental AUROC (full-covars): 0.04641
PGS R2 (no covariates): 0.02158
PGS AUROC (no covariates): 0.6323 [0.61251, 0.6521]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009420 PGS001815
(portability-PLR_242)
 PSS009285|
European Ancestry|
19,108 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0191 [0.0049, 0.0332] sex, age, birth date, deprivation index, 16 PCs —
PPM009421 PGS001815
(portability-PLR_242)
 PSS009059|
European Ancestry|
3,938 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0288 [-0.0025, 0.06] sex, age, birth date, deprivation index, 16 PCs —
PPM009422 PGS001815
(portability-PLR_242)
 PSS008613|
European Ancestry|
6,381 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0232 [-0.0014, 0.0477] sex, age, birth date, deprivation index, 16 PCs —
PPM009423 PGS001815
(portability-PLR_242)
 PSS008389|
Greater Middle Eastern Ancestry|
1,143 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): -0.0026 [-0.0611, 0.0559] sex, age, birth date, deprivation index, 16 PCs —
PPM009424 PGS001815
(portability-PLR_242)
 PSS008167|
South Asian Ancestry|
5,954 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0473 [0.0219, 0.0726] sex, age, birth date, deprivation index, 16 PCs —
PPM009425 PGS001815
(portability-PLR_242)
 PSS007954|
East Asian Ancestry|
1,754 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0177 [-0.0294, 0.0647] sex, age, birth date, deprivation index, 16 PCs —
PPM009426 PGS001815
(portability-PLR_242)
 PSS007735|
African Ancestry|
2,410 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): -0.0007 [-0.0408, 0.0394] sex, age, birth date, deprivation index, 16 PCs —
PPM009427 PGS001815
(portability-PLR_242)
 PSS008838|
African Ancestry|
3,836 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0182 [-0.0135, 0.0499] sex, age, birth date, deprivation index, 16 PCs —
PPM011058 PGS002023
(portability-ldpred2_242)
 PSS009285|
European Ancestry|
19,108 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0199 [0.0057, 0.034] sex, age, birth date, deprivation index, 16 PCs —
PPM011059 PGS002023
(portability-ldpred2_242)
 PSS009059|
European Ancestry|
3,938 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0345 [0.0032, 0.0658] sex, age, birth date, deprivation index, 16 PCs —
PPM011060 PGS002023
(portability-ldpred2_242)
 PSS008613|
European Ancestry|
6,381 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0195 [-0.0051, 0.044] sex, age, birth date, deprivation index, 16 PCs —
PPM011061 PGS002023
(portability-ldpred2_242)
 PSS008389|
Greater Middle Eastern Ancestry|
1,143 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): -0.0281 [-0.0864, 0.0305] sex, age, birth date, deprivation index, 16 PCs —
PPM011062 PGS002023
(portability-ldpred2_242)
 PSS008167|
South Asian Ancestry|
5,954 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0457 [0.0203, 0.0711] sex, age, birth date, deprivation index, 16 PCs —
PPM011063 PGS002023
(portability-ldpred2_242)
 PSS007954|
East Asian Ancestry|
1,754 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.039 [-0.0081, 0.0859] sex, age, birth date, deprivation index, 16 PCs —
PPM011064 PGS002023
(portability-ldpred2_242)
 PSS007735|
African Ancestry|
2,410 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0027 [-0.0374, 0.0428] sex, age, birth date, deprivation index, 16 PCs —
PPM011065 PGS002023
(portability-ldpred2_242)
 PSS008838|
African Ancestry|
3,836 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Thyrotoxicosis with or without goiter — — Partial Correlation (partial-r): 0.0172 [-0.0146, 0.0489] sex, age, birth date, deprivation index, 16 PCs —
PPM022747 PGS005264
(graves_disease_mixed_pt)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: graves' disease OR: 1.008
β: 0.008		 AUROC: 0.6587 — — —
PPM022748 PGS005265
(graves_disease_mixed_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: graves' disease OR: 1.62508
β: 0.48556		 AUROC: 0.66522 — — —
PPM022749 PGS005266
(graves_disease_eur_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: graves' disease OR: 1.54333
β: 0.43394		 AUROC: 0.66373 — — —

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
PSS009285 — — 19,108 individuals — European UK (+ Ireland) UKB —
PSS008389 — — 1,143 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS004565 — —
[
  • 127 cases
  • , 6,370 controls
]
 — African unspecified — UKB —
PSS004566 — —
[
  • 51 cases
  • , 1,653 controls
]
 — East Asian — UKB —
PSS004567 — —
[
  • 334 cases
  • , 24,571 controls
]
 — European non-white British ancestry UKB —
PSS004568 — —
[
  • 107 cases
  • , 7,724 controls
]
 — South Asian — UKB —
PSS004569 — —
[
  • 935 cases
  • , 66,490 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS009059 — — 3,938 individuals — European Poland (NE Europe) UKB —
PSS008167 — — 5,954 individuals — South Asian India (South Asia) UKB —
PSS008838 — — 3,836 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007954 — — 1,754 individuals — East Asian China (East Asia) UKB —
PSS008613 — — 6,381 individuals — European Italy (South Europe) UKB —
PSS004526 — —
[
  • 116 cases
  • , 6,381 controls
]
 — African unspecified — UKB —
PSS004527 — —
[
  • 44 cases
  • , 1,660 controls
]
 — East Asian — UKB —
PSS004528 — —
[
  • 286 cases
  • , 24,619 controls
]
 — European non-white British ancestry UKB —
PSS004529 — —
[
  • 92 cases
  • , 7,739 controls
]
 — South Asian — UKB —
PSS004530 — —
[
  • 805 cases
  • , 66,620 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007735 — — 2,410 individuals — African American or Afro-Caribbean Carribean UKB —
PSS012069 Cases - ICD-9-CM codes: 193, V10.87, ICD-10-CM billing codes: C73, Z85.850, ICD-9 codes: 193, V10.87, ICD-10 codes: C73, SNOMED: 92767001 Carcinoma in situ of thyroid gland, 363478007 Malignant tumor of thyroid gland, 255028004 Follicular thyroid carcinoma, 423158009 Hurthle cell carcinoma of thyroid, 772992009 Primary differentiated carcinoma of thyroid gland. Controls - ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter ICD-10-CM billing codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter, ICD-10 codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, SNOMED: 419153005 Nodular goiter, 190236006 Non-toxic nodular goiter, 66392007 Substernal goiter, 60968001 Adenomatous goiter — 94,651 individuals — African American or Afro-Caribbean, Hispanic or Latin American, European — CCPM —