Trait: endometriosis

Experimental Factor Ontology (EFO) Information
Identifier EFO_0001065
Description The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. [NCIT: C3014]
Trait category
Other disease
Synonyms 10 synonyms
  • ENDOMETRIOSIS NEC
  • Endometriosis (clinical)
  • Endometriosis (disorder)
  • Endometriosis (morphologic abnormality)
  • Endometriosis NOS
  • Endometriosis NOS (disorder)
  • Endometriosis of other specified sites
  • Endometriosis, site unspecified
  • endometriosis
  • endometriosis (disease)
Mapped terms 19 mapped terms
  • DOID:289
  • HP:0030127
  • ICD10:N80
  • ICD10CM:N80
  • ICD9:617
  • ICD9:617.8
  • ICD9:617.9
  • MEDGEN:8620
  • MESH:D004715
  • MONDO:0005133
  • MeSH:D004715
  • MedDRA:10014778
  • MedDRA:10014789
  • NCIT:C3014
  • NCIt:C3014
  • SCTID:129103003
  • SNOMEDCT:396224008
  • UMLS:C0014175
  • icd11.foundation:1838213761

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)
PGS001866
(portability-PLR_615)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Endometriosis endometriosis 399
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001866/ScoringFiles/PGS001866.txt.gz
PGS002077
(portability-ldpred2_615)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Endometriosis endometriosis 534,802
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002077/ScoringFiles/PGS002077.txt.gz
PGS003447
(PRS14_endo)
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Endometriosis endometriosis 14
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003447/ScoringFiles/PGS003447.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
PPM009817 PGS001866
(portability-PLR_615)
 PSS009341|
European Ancestry|
10,566 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0219 [0.0028, 0.041] sex, age, birth date, deprivation index, 16 PCs —
PPM009818 PGS001866
(portability-PLR_615)
 PSS009115|
European Ancestry|
2,514 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0355 [-0.0037, 0.0747] sex, age, birth date, deprivation index, 16 PCs —
PPM009819 PGS001866
(portability-PLR_615)
 PSS008669|
European Ancestry|
3,593 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0028 [-0.03, 0.0356] sex, age, birth date, deprivation index, 16 PCs —
PPM009820 PGS001866
(portability-PLR_615)
 PSS008443|
Greater Middle Eastern Ancestry|
468 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0366 [-0.0562, 0.1287] sex, age, birth date, deprivation index, 16 PCs —
PPM009821 PGS001866
(portability-PLR_615)
 PSS008223|
South Asian Ancestry|
2,826 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0358 [-0.0012, 0.0727] sex, age, birth date, deprivation index, 16 PCs —
PPM009822 PGS001866
(portability-PLR_615)
 PSS008004|
East Asian Ancestry|
1,175 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0619 [0.0042, 0.1191] sex, age, birth date, deprivation index, 16 PCs —
PPM009823 PGS001866
(portability-PLR_615)
 PSS007788|
African Ancestry|
1,515 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0248 [-0.0259, 0.0754] sex, age, birth date, deprivation index, 16 PCs —
PPM009824 PGS001866
(portability-PLR_615)
 PSS008892|
African Ancestry|
2,021 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.024 [-0.0199, 0.0677] sex, age, birth date, deprivation index, 16 PCs —
PPM011477 PGS002077
(portability-ldpred2_615)
 PSS009341|
European Ancestry|
10,566 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0252 [0.0061, 0.0442] sex, age, birth date, deprivation index, 16 PCs —
PPM011478 PGS002077
(portability-ldpred2_615)
 PSS009115|
European Ancestry|
2,514 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0048 [-0.0345, 0.044] sex, age, birth date, deprivation index, 16 PCs —
PPM011479 PGS002077
(portability-ldpred2_615)
 PSS008669|
European Ancestry|
3,593 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0127 [-0.0201, 0.0455] sex, age, birth date, deprivation index, 16 PCs —
PPM011480 PGS002077
(portability-ldpred2_615)
 PSS008443|
Greater Middle Eastern Ancestry|
468 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0933 sex, age, birth date, deprivation index, 16 PCs —
PPM011481 PGS002077
(portability-ldpred2_615)
 PSS008223|
South Asian Ancestry|
2,826 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.0077 [-0.0293, 0.0447] sex, age, birth date, deprivation index, 16 PCs —
PPM011482 PGS002077
(portability-ldpred2_615)
 PSS008004|
East Asian Ancestry|
1,175 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): -0.0422 [-0.0996, 0.0155] sex, age, birth date, deprivation index, 16 PCs —
PPM011483 PGS002077
(portability-ldpred2_615)
 PSS007788|
African Ancestry|
1,515 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): -0.0013 [-0.052, 0.0494] sex, age, birth date, deprivation index, 16 PCs —
PPM011484 PGS002077
(portability-ldpred2_615)
 PSS008892|
African Ancestry|
2,021 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Endometriosis — — Partial Correlation (partial-r): 0.002 [-0.0418, 0.0458] sex, age, birth date, deprivation index, 16 PCs —
PPM017213 PGS003447
(PRS14_endo)
 PSS010171|
European Ancestry|
259,189 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Endometriosis OR: 1.28 AUROC: 0.57 R²: 0.006 — R2 is estimated using Nagelkerke's method
PPM017214 PGS003447
(PRS14_endo)
 PSS010164|
Ancestry Not Reported|
1,053 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Adenomyosis OR: 1.04 AUROC: 0.5 R²: 0.0 — R2 is estimated using Nagelkerke's method
PPM017215 PGS003447
(PRS14_endo)
 PSS010170|
European Ancestry|
258,105 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Adenomyosis OR: 1.07 AUROC: 0.52 R²: 0.0 — R2 is estimated using Nagelkerke's method
PPM017216 PGS003447
(PRS14_endo)
 PSS010166|
Ancestry Not Reported|
874 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Infiltrating endometriosis OR: 1.66 AUROC: 0.6 R²: 0.065 — R2 is estimated using Nagelkerke's method
PPM017217 PGS003447
(PRS14_endo)
 PSS010168|
Ancestry Not Reported|
739 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Ovarian endometriosis OR: 1.72 AUROC: 0.64 R²: 0.051 — R2 is estimated using Nagelkerke's method
PPM017218 PGS003447
(PRS14_endo)
 PSS010169|
Ancestry Not Reported|
724 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Peritoneal endometriosis OR: 1.51 AUROC: 0.61 R²: 0.026 — R2 is estimated using Nagelkerke's method
PPM017219 PGS003447
(PRS14_endo)
 PSS010167|
Ancestry Not Reported|
708 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Endometriosis - other subtype OR: 1.27 AUROC: 0.53 R²: 0.008 — R2 is estimated using Nagelkerke's method
PPM017220 PGS003447
(PRS14_endo)
 PSS010172|
European Ancestry|
256,327 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Infiltrating endometriosis OR: 1.22 AUROC: 0.55 R²: 0.002 — R2 is estimated using Nagelkerke's method
PPM017221 PGS003447
(PRS14_endo)
 PSS010174|
European Ancestry|
257,380 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Ovarian endometriosis OR: 1.39 AUROC: 0.6 R²: 0.009 — R2 is estimated using Nagelkerke's method
PPM017223 PGS003447
(PRS14_endo)
 PSS010173|
European Ancestry|
257,190 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Endometriosis - other subtype OR: 1.19 AUROC: 0.55 R²: 0.002 — R2 is estimated using Nagelkerke's method
PPM017212 PGS003447
(PRS14_endo)
 PSS010164|
Ancestry Not Reported|
1,053 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Endometriosis OR: 1.57 AUROC: 0.64 R²: 0.061 — R2 is estimated using Nagelkerke's method
PPM017222 PGS003447
(PRS14_endo)
 PSS010175|
European Ancestry|
256,958 individuals
 PGP000447 |
Kloeve-Mogensen K et al. Front Reprod Health (2021)
 Reported Trait: Peritoneal endometriosis OR: 1.25 AUROC: 0.56 R²: 0.004 — R2 is estimated using Nagelkerke's method

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
PSS008004 — — 1,175 individuals — East Asian China (East Asia) UKB —
PSS008892 — — 2,021 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008669 — — 3,593 individuals — European Italy (South Europe) UKB —
PSS007788 — — 1,515 individuals — African American or Afro-Caribbean Carribean UKB —
PSS008443 — — 468 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009341 — — 10,566 individuals — European UK (+ Ireland) UKB —
PSS009115 — — 2,514 individuals — European Poland (NE Europe) UKB —
PSS008223 — — 2,826 individuals — South Asian India (South Asia) UKB —
PSS010164 Surgically confirmed or ICD10 code cases (N80.1-N80.9). —
[
  • 389 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010166 ICD10 codes N80.4, N80.5 —
[
  • 210 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010167 ICD10 codes N80.6, N80.8, N80.9 —
[
  • 44 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010168 ICD10 code N80.1 —
[
  • 75 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010169 ICD10 codes N80.2, N80.3 —
[
  • 60 cases
  • , 664 controls
]
,
0.0 % Male samples
 — Not reported
(Danish)		 — Aalborg, Aarhus, DTR —
PSS010170 ICD10 code N80.0 —
[
  • 1,883 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —
PSS010171 ICD10 codes (N80.1-N80.9) or self-reported cases. —
[
  • 2,967 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(British)		 — UKB —
PSS010172 ICD10 codes N80.4, N80.5 —
[
  • 105 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —
PSS010173 ICD10 codes N80.6, N80.8, N80.9 —
[
  • 968 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —
PSS010174 ICD10 code N80.1 —
[
  • 1,158 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —
PSS010175 ICD10 codes N80.2, N80.3 —
[
  • 736 cases
  • , 256,222 controls
]
,
0.0 % Male samples
 — European
(white British)		 — UKB —