Trait: iron metabolism disease

Trait Information
Identifier MONDO_0002279
Description Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. [MESH: D019189]
Trait category
Metabolic disorder
Synonyms 7 synonyms
  • disorder of iron metabolism
  • disorder, iron metabolism
  • disorders, iron metabolism
  • iron disorder
  • iron metabolism disorder
  • metabolism disorder, iron
  • metabolism disorders, iron
Mapped terms 7 mapped terms
  • DOID:2351
  • ICD10CM:E83.1
  • ICD9:275.0
  • MEDGEN:8438
  • MESH:D019189
  • SCTID:30913008
  • UMLS:C0012715

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)
PGS001823
(portability-PLR_275.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Disorders of iron metabolism iron metabolism disease 654
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001823/ScoringFiles/PGS001823.txt.gz
PGS002031
(portability-ldpred2_275.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Disorders of iron metabolism iron metabolism disease 6,713
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002031/ScoringFiles/PGS002031.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
PPM009484 PGS001823
(portability-PLR_275.1)
 PSS009293|
European Ancestry|
19,883 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): 0.1307 [0.117, 0.1444] sex, age, birth date, deprivation index, 16 PCs —
PPM009485 PGS001823
(portability-PLR_275.1)
 PSS009067|
European Ancestry|
4,105 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): 0.109 [0.0786, 0.1392] sex, age, birth date, deprivation index, 16 PCs —
PPM009486 PGS001823
(portability-PLR_275.1)
 PSS008621|
European Ancestry|
6,637 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): 0.0178 [-0.0063, 0.0419] sex, age, birth date, deprivation index, 16 PCs —
PPM009487 PGS001823
(portability-PLR_275.1)
 PSS008175|
South Asian Ancestry|
6,298 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): 0.0003 [-0.0244, 0.025] sex, age, birth date, deprivation index, 16 PCs —
PPM009489 PGS001823
(portability-PLR_275.1)
 PSS008846|
African Ancestry|
3,903 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): 0.0193 [-0.0121, 0.0507] sex, age, birth date, deprivation index, 16 PCs —
PPM009488 PGS001823
(portability-PLR_275.1)
 PSS007962|
East Asian Ancestry|
1,809 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): 0.0117 [-0.0346, 0.058] sex, age, birth date, deprivation index, 16 PCs —
PPM011122 PGS002031
(portability-ldpred2_275.1)
 PSS009293|
European Ancestry|
19,883 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): 0.1355 [0.1219, 0.1492] sex, age, birth date, deprivation index, 16 PCs —
PPM011123 PGS002031
(portability-ldpred2_275.1)
 PSS009067|
European Ancestry|
4,105 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): 0.1073 [0.0769, 0.1375] sex, age, birth date, deprivation index, 16 PCs —
PPM011124 PGS002031
(portability-ldpred2_275.1)
 PSS008621|
European Ancestry|
6,637 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): 0.0173 [-0.0068, 0.0414] sex, age, birth date, deprivation index, 16 PCs —
PPM011125 PGS002031
(portability-ldpred2_275.1)
 PSS008175|
South Asian Ancestry|
6,298 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): -0.0027 [-0.0274, 0.0221] sex, age, birth date, deprivation index, 16 PCs —
PPM011127 PGS002031
(portability-ldpred2_275.1)
 PSS008846|
African Ancestry|
3,903 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): -0.0075 [-0.039, 0.0239] sex, age, birth date, deprivation index, 16 PCs —
PPM011126 PGS002031
(portability-ldpred2_275.1)
 PSS007962|
East Asian Ancestry|
1,809 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Disorders of iron metabolism — — Partial Correlation (partial-r): -0.008 [-0.0543, 0.0384] 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
PSS009067 — — 4,105 individuals — European Poland (NE Europe) UKB —
PSS009293 — — 19,883 individuals — European UK (+ Ireland) UKB —
PSS008846 — — 3,903 individuals — African unspecified Nigeria (West Africa) UKB —
PSS008175 — — 6,298 individuals — South Asian India (South Asia) UKB —
PSS008621 — — 6,637 individuals — European Italy (South Europe) UKB —
PSS007962 — — 1,809 individuals — East Asian China (East Asia) UKB —