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 16 mapped terms
  • DOID:289
  • HP:0030127
  • ICD10:N80
  • ICD10:N80.9
  • ICD9:617
  • ICD9:617.8
  • ICD9:617.9
  • MESH:D004715
  • MONDO:0005133
  • MeSH:D004715
  • MedDRA:10014778
  • MedDRA:10014789
  • NCIT:C3014
  • NCIt:C3014
  • SCTID:129103003
  • SNOMEDCT:396224008

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 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

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

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
PSS007788 1,515 individuals African American or Afro-Caribbean Carribean UKB
PSS008669 3,593 individuals European Italy (South Europe) UKB
PSS009115 2,514 individuals European Poland (NE Europe) UKB
PSS008443 468 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS008892 2,021 individuals African unspecified Nigeria (West Africa) UKB
PSS009341 10,566 individuals European UK (+ Ireland) UKB
PSS008223 2,826 individuals South Asian India (South Asia) UKB