Trait: dermoid cyst

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000894
Description A tumor consisting of displaced ectodermal structures along the lines of embryonic fusion, the wall being formed of epithelium-lined connective tissue, including skin appendages, and containing keratin, sebum, and hair. (Stedman, 25th ed)
Trait category
Other trait
Synonyms 7 synonyms
  • Dermoid Cyst
  • Dermoid choristoma
  • Dermoid tumour
  • Mature cystic teratoma
  • cystic dermoid choristoma
  • teratoma, benign
  • teratoma, benign (morphologic abnormality)

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)
PGS018712
(TPMI_246.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Thyroid cyst dermoid cyst 287
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018712/ScoringFiles/PGS018712.txt.gz
PGS018713
(TPMI_246.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Thyroid cyst dermoid cyst 237,092
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018713/ScoringFiles/PGS018713.txt.gz
PGS018714
(TPMI_246.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Thyroid cyst dermoid cyst 552,969
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018714/ScoringFiles/PGS018714.txt.gz
PGS018715
(TPMI_246.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Thyroid cyst dermoid cyst 983,778
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018715/ScoringFiles/PGS018715.txt.gz
PGS018716
(TPMI_246.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Thyroid cyst dermoid cyst 1,016,561
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018716/ScoringFiles/PGS018716.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
PPM036894 PGS018712
(TPMI_246.2_Lassosum2)
 PSS012610|
East Asian Ancestry|
17,266 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Thyroid cyst — AUROC: 0.71646 R²: 0.01421 sex, age, array, PCs 1-10 —
PPM036895 PGS018713
(TPMI_246.2_LDpred2)
 PSS012609|
East Asian Ancestry|
17,266 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Thyroid cyst — AUROC: 0.713 R²: 0.01407 sex, age, array, PCs 1-10 —
PPM036896 PGS018714
(TPMI_246.2_MegaPRS)
 PSS012611|
East Asian Ancestry|
17,266 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Thyroid cyst — AUROC: 0.7148 R²: 0.01367 sex, age, array, PCs 1-10 —
PPM036897 PGS018715
(TPMI_246.2_PRS-CS)
 PSS012612|
East Asian Ancestry|
17,266 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Thyroid cyst — AUROC: 0.71979 R²: 0.01449 sex, age, array, PCs 1-10 —
PPM036898 PGS018716
(TPMI_246.2_SBayesR)
 PSS012613|
East Asian Ancestry|
17,266 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Thyroid cyst — AUROC: 0.7132 R²: 0.01354 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
PSS012609 246.2, —
[
  • 186 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012610 246.2, —
[
  • 186 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012611 246.2, —
[
  • 186 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012612 246.2, —
[
  • 186 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012613 246.2, —
[
  • 186 cases
  • , 17,080 controls
]
,
49.59 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —