Trait: diaphragmatic hernia

Experimental Factor Ontology (EFO) Information
Identifier EFO_0008561
Description A congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse. [ NCI ]
Trait category
Other trait
Mapped terms 6 mapped terms
  • ICD10:K44
  • MP:0003924
  • MeSH:D006548
  • MedDRA:10012713
  • MedDRA:10012723
  • NCIt:C34687

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)
PGS001050
(GBE_HC1098)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Diaphragmatic hernia (time-to-event) diaphragmatic hernia 1,857
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001050/ScoringFiles/PGS001050.txt.gz
PGS004473
(disease.K44.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K44 (Diaphragmatic hernia) diaphragmatic hernia 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004473/ScoringFiles/PGS004473.txt.gz
PGS004543
(meta.K44.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K44 (Diaphragmatic hernia) diaphragmatic hernia 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004543/ScoringFiles/PGS004543.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
PPM008008 PGS001050
(GBE_HC1098)
 PSS004109|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diaphragmatic hernia — AUROC: 0.70586 [0.6782, 0.73351] R²: 0.08077
Incremental AUROC (full-covars): -0.00078
PGS R2 (no covariates): 0.00081
PGS AUROC (no covariates): 0.51794 [0.4856, 0.55028]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008009 PGS001050
(GBE_HC1098)
 PSS004110|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diaphragmatic hernia — AUROC: 0.70285 [0.63918, 0.76652] R²: 0.06338
Incremental AUROC (full-covars): 0.00329
PGS R2 (no covariates): 0.00363
PGS AUROC (no covariates): 0.53138 [0.44975, 0.61301]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008010 PGS001050
(GBE_HC1098)
 PSS004111|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diaphragmatic hernia — AUROC: 0.6432 [0.63102, 0.65539] R²: 0.04361
Incremental AUROC (full-covars): 0.00165
PGS R2 (no covariates): 0.00233
PGS AUROC (no covariates): 0.53254 [0.51914, 0.54594]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008011 PGS001050
(GBE_HC1098)
 PSS004112|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diaphragmatic hernia — AUROC: 0.66639 [0.64525, 0.68753] R²: 0.05612
Incremental AUROC (full-covars): 0.00378
PGS R2 (no covariates): 0.00158
PGS AUROC (no covariates): 0.52781 [0.50434, 0.55128]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008012 PGS001050
(GBE_HC1098)
 PSS004113|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE diaphragmatic hernia — AUROC: 0.63057 [0.62354, 0.6376] R²: 0.03754
Incremental AUROC (full-covars): 0.0074
PGS R2 (no covariates): 0.00392
PGS AUROC (no covariates): 0.54206 [0.53448, 0.54964]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM020588 PGS004473
(disease.K44.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K44 (Diaphragmatic hernia) OR: 1.23642 — — — —
PPM020658 PGS004543
(meta.K44.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K44 (Diaphragmatic hernia) OR: 1.29598 — — — —

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
PSS004109 — —
[
  • 329 cases
  • , 6,168 controls
]
 — African unspecified — UKB —
PSS004110 — —
[
  • 59 cases
  • , 1,645 controls
]
 — East Asian — UKB —
PSS004111 — —
[
  • 1,957 cases
  • , 22,948 controls
]
 — European non-white British ancestry UKB —
PSS004112 — —
[
  • 606 cases
  • , 7,225 controls
]
 — South Asian — UKB —
PSS004113 — —
[
  • 6,042 cases
  • , 61,383 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS011364 — — 56,192 individuals — European — UKB —