Trait: bilirubin metabolism disease

Trait Information
Identifier MONDO_0024431
Trait category
Metabolic disorder
Synonym disorder of bilirubin metabolism
Mapped terms 3 mapped terms
  • MEDGEN:541273
  • SCTID:80006005
  • UMLS:C0268305

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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000924
(GBE_HC702)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Disorders of porphyrin and bilirubin metabolism (time-to-event) bilirubin metabolism disease,
porphyrin metabolism disease		 5
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000924/ScoringFiles/PGS000924.txt.gz
PGS001824
(portability-PLR_277.4)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Disorders of bilirubin excretion bilirubin metabolism disease 22
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001824/ScoringFiles/PGS001824.txt.gz
PGS002032
(portability-ldpred2_277.4)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Disorders of bilirubin excretion bilirubin metabolism disease 19,768
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002032/ScoringFiles/PGS002032.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
PPM007448 PGS000924
(GBE_HC702)
 PSS004600|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE disorders of porphyrin and bilirubin metabolism — AUROC: 0.87825 [0.76546, 0.99105] R²: 0.13644
Incremental AUROC (full-covars): -0.00608
PGS R2 (no covariates): 0.01768
PGS AUROC (no covariates): 0.66722 [0.47474, 0.85969]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007449 PGS000924
(GBE_HC702)
 PSS004602|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE disorders of porphyrin and bilirubin metabolism — AUROC: 0.89799 [0.85782, 0.93815] R²: 0.23107
Incremental AUROC (full-covars): 0.18304
PGS R2 (no covariates): 0.18886
PGS AUROC (no covariates): 0.85948 [0.81228, 0.90668]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007450 PGS000924
(GBE_HC702)
 PSS004603|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE disorders of porphyrin and bilirubin metabolism — AUROC: 0.85394 [0.77864, 0.92924] R²: 0.15917
Incremental AUROC (full-covars): 0.14922
PGS R2 (no covariates): 0.11194
PGS AUROC (no covariates): 0.81401 [0.72659, 0.90144]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007451 PGS000924
(GBE_HC702)
 PSS004604|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE disorders of porphyrin and bilirubin metabolism — AUROC: 0.90591 [0.88325, 0.92858] R²: 0.23709
Incremental AUROC (full-covars): 0.28213
PGS R2 (no covariates): 0.21843
PGS AUROC (no covariates): 0.88697 [0.86397, 0.90997]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009490 PGS001824
(portability-PLR_277.4)
 PSS009294|
European Ancestry|
19,924 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0716 [0.0577, 0.0854] sex, age, birth date, deprivation index, 16 PCs —
PPM009491 PGS001824
(portability-PLR_277.4)
 PSS009068|
European Ancestry|
4,126 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0565 [0.026, 0.087] sex, age, birth date, deprivation index, 16 PCs —
PPM009492 PGS001824
(portability-PLR_277.4)
 PSS008622|
European Ancestry|
6,636 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0696 [0.0455, 0.0935] sex, age, birth date, deprivation index, 16 PCs —
PPM009493 PGS001824
(portability-PLR_277.4)
 PSS008397|
Greater Middle Eastern Ancestry|
1,196 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): -0.0314 [-0.0885, 0.0258] sex, age, birth date, deprivation index, 16 PCs —
PPM009494 PGS001824
(portability-PLR_277.4)
 PSS008176|
South Asian Ancestry|
6,292 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0243 sex, age, birth date, deprivation index, 16 PCs —
PPM009495 PGS001824
(portability-PLR_277.4)
 PSS007743|
African Ancestry|
2,472 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.002 [-0.0376, 0.0416] sex, age, birth date, deprivation index, 16 PCs —
PPM009496 PGS001824
(portability-PLR_277.4)
 PSS008847|
African Ancestry|
3,901 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0014 [-0.0301, 0.0328] sex, age, birth date, deprivation index, 16 PCs —
PPM011128 PGS002032
(portability-ldpred2_277.4)
 PSS009294|
European Ancestry|
19,924 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0716 [0.0578, 0.0854] sex, age, birth date, deprivation index, 16 PCs —
PPM011129 PGS002032
(portability-ldpred2_277.4)
 PSS009068|
European Ancestry|
4,126 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0534 [0.0228, 0.0838] sex, age, birth date, deprivation index, 16 PCs —
PPM011130 PGS002032
(portability-ldpred2_277.4)
 PSS008622|
European Ancestry|
6,636 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0714 [0.0474, 0.0953] sex, age, birth date, deprivation index, 16 PCs —
PPM011131 PGS002032
(portability-ldpred2_277.4)
 PSS008397|
Greater Middle Eastern Ancestry|
1,196 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): -0.0333 [-0.0903, 0.0239] sex, age, birth date, deprivation index, 16 PCs —
PPM011132 PGS002032
(portability-ldpred2_277.4)
 PSS008176|
South Asian Ancestry|
6,292 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0252 sex, age, birth date, deprivation index, 16 PCs —
PPM011133 PGS002032
(portability-ldpred2_277.4)
 PSS007743|
African Ancestry|
2,472 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): 0.0011 [-0.0385, 0.0406] sex, age, birth date, deprivation index, 16 PCs —
PPM011134 PGS002032
(portability-ldpred2_277.4)
 PSS008847|
African Ancestry|
3,901 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of bilirubin excretion — — Partial Correlation (partial-r): -0.0017 [-0.0332, 0.0297] 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
PSS004604 — —
[
  • 215 cases
  • , 67,210 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS009068 — — 4,126 individuals — European Poland (NE Europe) UKB —
PSS008397 — — 1,196 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009294 — — 19,924 individuals — European UK (+ Ireland) UKB —
PSS008622 — — 6,636 individuals — European Italy (South Europe) UKB —
PSS008176 — — 6,292 individuals — South Asian India (South Asia) UKB —
PSS008847 — — 3,901 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007743 — — 2,472 individuals — African American or Afro-Caribbean Carribean UKB —
PSS004600 — —
[
  • 4 cases
  • , 6,493 controls
]
 — African unspecified — UKB —
PSS004602 — —
[
  • 79 cases
  • , 24,826 controls
]
 — European non-white British ancestry UKB —
PSS004603 — —
[
  • 23 cases
  • , 7,808 controls
]
 — South Asian — UKB —