Experimental Factor Ontology (EFO) Information | |
Identifier | EFO_0001378 |
Description | A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) [NCIT: C3242] | Trait categories |
Cancer
Immune system disorder
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Synonyms |
12 synonyms
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Mapped terms |
18 mapped terms
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Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | Ancestry distribution | Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS000652 (PRSWEB_PHECODE204.4_C90_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Multiple myeloma | multiple myeloma | 27 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000652/ScoringFiles/PGS000652.txt.gz | |
PGS000653 (PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Multiple myeloma | multiple myeloma | 22 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000653/ScoringFiles/PGS000653.txt.gz | |
PGS000654 (PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Multiple myeloma | multiple myeloma | 21 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000654/ScoringFiles/PGS000654.txt.gz | |
PGS002281 (PRS23_MM) |
PGP000310 | Canzian F et al. Eur J Hum Genet (2021) |
Multiple myeloma | multiple myeloma | 23 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002281/ScoringFiles/PGS002281.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 |
---|---|---|---|---|---|---|---|---|---|
PPM001337 | PGS000652 (PRSWEB_PHECODE204.4_C90_PT_MGI_20200608) |
PSS000563| European Ancestry| 908 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Multiple myeloma | OR: 1.24 [1.005, 1.529] β: 0.215 (0.107) |
AUROC: 0.547 [0.479, 0.613] | Nagelkerke's Pseudo-R²: 0.00945 Brier score: 0.0823 Odds Ratio (OR, top 1% vs. Rest): 2.6 [0.593, 11.4] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_C90_PT_MGI_20200608 |
PPM001338 | PGS000653 (PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608) |
PSS000582| European Ancestry| 2,738 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Multiple myeloma | OR: 1.327 [1.165, 1.511] β: 0.283 (0.0663) |
AUROC: 0.577 [0.537, 0.617] | Nagelkerke's Pseudo-R²: 0.0145 Brier score: 0.0818 Odds Ratio (OR, top 1% vs. Rest): 2.2 [0.855, 5.66] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608 |
PPM001339 | PGS000654 (PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608) |
PSS000582| European Ancestry| 2,738 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Multiple myeloma | OR: 1.316 [1.156, 1.499] β: 0.275 (0.0662) |
AUROC: 0.576 [0.536, 0.616] | Nagelkerke's Pseudo-R²: 0.0137 Brier score: 0.0818 Odds Ratio (OR, top 1% vs. Rest): 2.2 [0.854, 5.66] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608 |
PPM012970 | PGS002281 (PRS23_MM) |
PSS009636| European Ancestry| 2,395 individuals |
PGP000310 | Canzian F et al. Eur J Hum Genet (2021) |
Reported Trait: Multiple myeloma | — | AUROC: 0.644 [0.622, 0.666] | Odds Ratio (OR, highest vs lowest quintiles): 3.18 [2.34, 4.33] | Age, sex, and geographic region of origin | Unweighted score (100% call rate) |
PPM012971 | PGS002281 (PRS23_MM) |
PSS009636| European Ancestry| 2,395 individuals |
PGP000310 | Canzian F et al. Eur J Hum Genet (2021) |
Reported Trait: Multiple myeloma | — | AUROC: 0.628 [0.605, 0.65] | Odds Ratio (OR, highest vs lowest quintiles): 3.44 [2.53, 4.69] | Age, sex, and geographic region of origin | Weighted score (100% call rate) |
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 |
---|---|---|---|---|---|---|---|---|
PSS000563 | PheCode:204.4; ICD9CM:203.00, 203.01, 203.02, 203.80, 203.81, 203.82; ICD10CM:C88.2, C88.3, C88.9, C90.0, C90.00, C90.01, C90.02, C90.2, C90.20, C90.21, C90.22, C90.30, C90.31, C90.32 | — | [
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— | European | — | MGI | — |
PSS000582 | PheCode:204.4; ICD9:203, 203.0, 203.8; ICD10:C88.1, C88.3, C88.9, C90.0, C90.2 | — | [
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— | European | — | UKB | — |
PSS009636 | — | — | [
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— | European | — | NR | International Multiple Myeloma rESEarch (IMMEnSE) consortium |