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 category |
Cancer
Immune system disorder
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Synonyms |
43 synonyms
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Mapped term(s) |
20 mapped terms
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Polygenic Score (PGS) ID | PGS Name | PGS Publication (PGP) ID | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants | PGS 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 | http://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 | http://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 | http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000654/ScoringFiles/PGS000654.txt.gz |
PGS Performance Metric ID (PPM ID) |
Evaluated Score |
PGS Sample Set ID (PSS ID) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
PGS Classification Metrics | Other Metrics | Covariates Included in the Model | PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|---|
PPM001339 | PGS000654 (PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_PT_UKB_20200608) | PSS000582 | PGP000118 Fritsche LG et al. (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 |
PPM001338 | PGS000653 (PRSWEB_PHECODE204.4_GWAS-Catalog-r2019-05-03-X204.4_P_5e-08_UKB_20200608) | PSS000582 | PGP000118 Fritsche LG et al. (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 |
PPM001337 | PGS000652 (PRSWEB_PHECODE204.4_C90_PT_MGI_20200608) | PSS000563 | PGP000118 Fritsche LG et al. (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 |
PGS Sample Set ID (PSS ID) |
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 | — |