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
|
Mapped terms |
18 mapped terms
|
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 |
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 |
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). | — | [ ,
0.0 % Male samples |
— | Not reported (Danish) |
— | Aalborg, Aarhus, DTR | — |
PSS010166 | ICD10 codes N80.4, N80.5 | — | [ ,
0.0 % Male samples |
— | Not reported (Danish) |
— | Aalborg, Aarhus, DTR | — |
PSS010167 | ICD10 codes N80.6, N80.8, N80.9 | — | [ ,
0.0 % Male samples |
— | Not reported (Danish) |
— | Aalborg, Aarhus, DTR | — |
PSS010168 | ICD10 code N80.1 | — | [ ,
0.0 % Male samples |
— | Not reported (Danish) |
— | Aalborg, Aarhus, DTR | — |
PSS010169 | ICD10 codes N80.2, N80.3 | — | [ ,
0.0 % Male samples |
— | Not reported (Danish) |
— | Aalborg, Aarhus, DTR | — |
PSS010170 | ICD10 code N80.0 | — | [ ,
0.0 % Male samples |
— | European (white British) |
— | UKB | — |
PSS010171 | ICD10 codes (N80.1-N80.9) or self-reported cases. | — | [ ,
0.0 % Male samples |
— | European (British) |
— | UKB | — |
PSS010172 | ICD10 codes N80.4, N80.5 | — | [ ,
0.0 % Male samples |
— | European (white British) |
— | UKB | — |
PSS010173 | ICD10 codes N80.6, N80.8, N80.9 | — | [ ,
0.0 % Male samples |
— | European (white British) |
— | UKB | — |
PSS010174 | ICD10 code N80.1 | — | [ ,
0.0 % Male samples |
— | European (white British) |
— | UKB | — |
PSS010175 | ICD10 codes N80.2, N80.3 | — | [ ,
0.0 % Male samples |
— | European (white British) |
— | UKB | — |