Trait: Disorder of bilirubin metabolism and excretion

Trait Information
Identifier Orphanet_309816
Trait category
Metabolic disorder
Synonyms 5 synonyms
  • disorder of bilirubin metabolism
  • disorder of bilirubin metabolism and excretion
  • hereditary bilirubin metabolism disease
  • inborn disorder of bilirubin metabolism
  • inborn disorder of bilirubin metabolism and excretion
Mapped term OMIM:614335

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 Scoring File (FTP Link)
PGS001824
(portability-PLR_277.4)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Disorders of bilirubin excretion Disorder of bilirubin metabolism and excretion 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 Disorder of bilirubin metabolism and excretion 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

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
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
PSS008622 6,636 individuals European Italy (South Europe) UKB
PSS008847 3,901 individuals African unspecified Nigeria (West Africa) UKB
PSS008176 6,292 individuals South Asian India (South Asia) UKB
PSS009294 19,924 individuals European UK (+ Ireland) UKB
PSS007743 2,472 individuals African American or Afro-Caribbean Carribean UKB