Trait: porphyrin metabolism disease

Trait Information
Identifier MONDO_0037821
Description A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. [MONDO: patterns/basis_in_disruption_of_process]
Trait category
Metabolic disorder
Synonyms 4 synonyms
  • disorder of porphyrin and heme metabolism
  • disorder of porphyrin metabolism
  • disorder of porphyrin-containing compound metabolic process
  • porphyrin-containing compound metabolic process disease
Mapped terms 4 mapped terms
  • ICD9:277.1
  • MEDGEN:10865
  • SCTID:29094004
  • UMLS:C0032708

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

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

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)
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 —