| Trait Information | |
| Identifier | MONDO_0005334 |
| Description | A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. [EFO: 0004128] | Trait category |
Other trait
|
| Synonyms |
3 synonyms
|
| Child trait(s) | IgA glomerulonephritis |
| 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) |
|---|---|---|---|---|---|---|
| PGS005282 (GRS15_nephropathy) |
PGP000756 | Xu L et al. Phenomics (2024) |
IgA nephropathy | IgA glomerulonephritis | 15 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005282/ScoringFiles/PGS005282.txt.gz |
| PGS005283 (GRS21_nephropathy) |
PGP000756 | Xu L et al. Phenomics (2024) |
IgA nephropathy | IgA glomerulonephritis | 21 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005283/ScoringFiles/PGS005283.txt.gz |
| PGS005284 (GRS55_nephropathy) |
PGP000756 | Xu L et al. Phenomics (2024) |
IgA nephropathy | IgA glomerulonephritis | 55 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005284/ScoringFiles/PGS005284.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM022989 | PGS005282 (GRS15_nephropathy) |
PSS012087| East Asian Ancestry| 12,207 individuals |
PGP000756 | Xu L et al. Phenomics (2024) |
Reported Trait: IgA nephropathy | OR: 1.36 [1.3, 1.42] | AUROC: 0.59 | — | — | — |
| PPM022990 | PGS005283 (GRS21_nephropathy) |
PSS012087| East Asian Ancestry| 12,207 individuals |
PGP000756 | Xu L et al. Phenomics (2024) |
Reported Trait: IgA nephropathy | OR: 1.62 [1.55, 1.69] | AUROC: 0.63 | — | — | — |
| PPM022991 | PGS005284 (GRS55_nephropathy) |
PSS012087| East Asian Ancestry| 12,207 individuals |
PGP000756 | Xu L et al. Phenomics (2024) |
Reported Trait: IgA nephropathy | OR: 1.62 [1.55, 1.69] | AUROC: 0.63 | — | — | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS012087 | — | — | [
|
— | East Asian (Chinese) |
— | NR | PKU-IgAN Cohort |