Trait: vesiculobullous skin disease

Trait Information
Identifier MONDO_0006617
Description Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) [MESH: D012872]
Trait category
Other disease
Synonyms 23 synonyms
  • Sneddon Wilkinson disease
  • Sneddon-Wilkinson disease
  • bullous dermatoses
  • bullous skin disease
  • bullous skin diseases
  • dermatoses, bullous
  • dermatoses, subcorneal pustular
  • dermatoses, vesiculobullous
  • dermatosis, subcorneal pustular
  • pustular dermatoses, subcorneal
  • pustular dermatosis, subcorneal
  • skin disease, bullous
  • skin disease, vesicular
  • skin disease, vesiculobullous
  • skin diseases, bullous
  • skin diseases, vesicular
  • subcorneal pustular dermatoses
  • subcorneal pustular dermatosis
  • vesicular skin disease
  • vesicular skin diseases
  • vesiculobullous dermatoses
  • vesiculobullous skin disease
  • vesiculobullous skin diseases
Child trait(s) 2 child traits

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
Note: This table shows PGS for child terms of "vesiculobullous skin disease" in the EFO hierarchy.
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)
PGS001131
(GBE_HC530)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Zoster [herpes zoster] (time-to-event) herpes zoster 82
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001131/ScoringFiles/PGS001131.txt.gz
PGS001869
(portability-PLR_681)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Superficial cellulitis and abscess cellulitis 131
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001869/ScoringFiles/PGS001869.txt.gz
PGS002081
(portability-ldpred2_681)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Superficial cellulitis and abscess cellulitis 640,921
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002081/ScoringFiles/PGS002081.txt.gz
PGS019572
(TPMI_681.1_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cellulitis and abscess of fingers toes abscess,
cellulitis		 147,425
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019572/ScoringFiles/PGS019572.txt.gz
PGS019573
(TPMI_681.1_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cellulitis and abscess of fingers toes abscess,
cellulitis		 309,069
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019573/ScoringFiles/PGS019573.txt.gz
PGS019574
(TPMI_681.1_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cellulitis and abscess of fingers toes abscess,
cellulitis		 31,805
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019574/ScoringFiles/PGS019574.txt.gz
PGS019575
(TPMI_681.1_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cellulitis and abscess of fingers toes abscess,
cellulitis		 983,773
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019575/ScoringFiles/PGS019575.txt.gz
PGS019576
(TPMI_681.1_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cellulitis and abscess of fingers toes abscess,
cellulitis		 996,414
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019576/ScoringFiles/PGS019576.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
PPM008383 PGS001131
(GBE_HC530)
 PSS004516|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE zoster [herpes zoster] — AUROC: 0.66564 [0.59848, 0.7328] R²: 0.02855
Incremental AUROC (full-covars): 0.00653
PGS R2 (no covariates): 0.00463
PGS AUROC (no covariates): 0.5717 [0.50786, 0.63553]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008384 PGS001131
(GBE_HC530)
 PSS004517|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE zoster [herpes zoster] — AUROC: 0.6496 [0.5711, 0.7281] R²: 0.02884
Incremental AUROC (full-covars): 0.00319
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.49296 [0.39896, 0.58695]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008385 PGS001131
(GBE_HC530)
 PSS004518|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE zoster [herpes zoster] — AUROC: 0.61339 [0.59385, 0.63293] R²: 0.01934
Incremental AUROC (full-covars): 0.00397
PGS R2 (no covariates): 0.00108
PGS AUROC (no covariates): 0.52734 [0.50543, 0.54926]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008386 PGS001131
(GBE_HC530)
 PSS004519|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE zoster [herpes zoster] — AUROC: 0.64482 [0.60407, 0.68558] R²: 0.02792
Incremental AUROC (full-covars): -0.00388
PGS R2 (no covariates): 0.00012
PGS AUROC (no covariates): 0.49268 [0.44738, 0.53799]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008387 PGS001131
(GBE_HC530)
 PSS004520|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE zoster [herpes zoster] — AUROC: 0.60947 [0.59775, 0.62119] R²: 0.0198
Incremental AUROC (full-covars): 0.00787
PGS R2 (no covariates): 0.00329
PGS AUROC (no covariates): 0.54558 [0.53361, 0.55755]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009841 PGS001869
(portability-PLR_681)
 PSS009345|
European Ancestry|
19,807 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): 0.0142 sex, age, birth date, deprivation index, 16 PCs —
PPM009842 PGS001869
(portability-PLR_681)
 PSS009119|
European Ancestry|
4,093 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): -0.0247 [-0.0554, 0.006] sex, age, birth date, deprivation index, 16 PCs —
PPM009843 PGS001869
(portability-PLR_681)
 PSS008673|
European Ancestry|
6,586 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): -0.004 [-0.0282, 0.0201] sex, age, birth date, deprivation index, 16 PCs —
PPM009844 PGS001869
(portability-PLR_681)
 PSS008447|
Greater Middle Eastern Ancestry|
1,189 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): 0.0014 [-0.0559, 0.0587] sex, age, birth date, deprivation index, 16 PCs —
PPM009845 PGS001869
(portability-PLR_681)
 PSS008227|
South Asian Ancestry|
6,213 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): 0.0057 [-0.0192, 0.0306] sex, age, birth date, deprivation index, 16 PCs —
PPM009846 PGS001869
(portability-PLR_681)
 PSS008008|
East Asian Ancestry|
1,803 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): -0.0207 [-0.0671, 0.0257] sex, age, birth date, deprivation index, 16 PCs —
PPM009847 PGS001869
(portability-PLR_681)
 PSS007792|
African Ancestry|
2,440 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): -0.0078 [-0.0476, 0.0321] sex, age, birth date, deprivation index, 16 PCs —
PPM009848 PGS001869
(portability-PLR_681)
 PSS008896|
African Ancestry|
3,853 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): -0.0033 [-0.0349, 0.0284] sex, age, birth date, deprivation index, 16 PCs —
PPM011509 PGS002081
(portability-ldpred2_681)
 PSS009345|
European Ancestry|
19,807 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): 0.0247 [0.0108, 0.0386] sex, age, birth date, deprivation index, 16 PCs —
PPM011510 PGS002081
(portability-ldpred2_681)
 PSS009119|
European Ancestry|
4,093 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): 0.0189 [-0.0118, 0.0496] sex, age, birth date, deprivation index, 16 PCs —
PPM011511 PGS002081
(portability-ldpred2_681)
 PSS008673|
European Ancestry|
6,586 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): 0.009 [-0.0152, 0.0332] sex, age, birth date, deprivation index, 16 PCs —
PPM011512 PGS002081
(portability-ldpred2_681)
 PSS008447|
Greater Middle Eastern Ancestry|
1,189 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): 0.021 [-0.0364, 0.0782] sex, age, birth date, deprivation index, 16 PCs —
PPM011513 PGS002081
(portability-ldpred2_681)
 PSS008227|
South Asian Ancestry|
6,213 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): 0.0082 [-0.0167, 0.0331] sex, age, birth date, deprivation index, 16 PCs —
PPM011514 PGS002081
(portability-ldpred2_681)
 PSS008008|
East Asian Ancestry|
1,803 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): -0.0251 [-0.0715, 0.0213] sex, age, birth date, deprivation index, 16 PCs —
PPM011516 PGS002081
(portability-ldpred2_681)
 PSS008896|
African Ancestry|
3,853 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): -0.0005 [-0.0321, 0.0312] sex, age, birth date, deprivation index, 16 PCs —
PPM011515 PGS002081
(portability-ldpred2_681)
 PSS007792|
African Ancestry|
2,440 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Superficial cellulitis and abscess — — Partial Correlation (partial-r): -0.0119 [-0.0518, 0.0279] sex, age, birth date, deprivation index, 16 PCs —
PPM037754 PGS019572
(TPMI_681.1_Lassosum2)
 PSS013475|
East Asian Ancestry|
17,970 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cellulitis and abscess of fingers toes — AUROC: 0.57611 R²: 0.00307 sex, age, array, PCs 1-10 —
PPM037755 PGS019573
(TPMI_681.1_LDpred2)
 PSS013474|
East Asian Ancestry|
17,970 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cellulitis and abscess of fingers toes — AUROC: 0.58225 R²: 0.00322 sex, age, array, PCs 1-10 —
PPM037756 PGS019574
(TPMI_681.1_MegaPRS)
 PSS013476|
East Asian Ancestry|
17,970 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cellulitis and abscess of fingers toes — AUROC: 0.57457 R²: 0.00283 sex, age, array, PCs 1-10 —
PPM037757 PGS019575
(TPMI_681.1_PRS-CS)
 PSS013477|
East Asian Ancestry|
17,970 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cellulitis and abscess of fingers toes — AUROC: 0.57797 R²: 0.00306 sex, age, array, PCs 1-10 —
PPM037758 PGS019576
(TPMI_681.1_SBayesR)
 PSS013478|
East Asian Ancestry|
17,970 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cellulitis and abscess of fingers toes — AUROC: 0.57415 R²: 0.00292 sex, age, array, PCs 1-10 —

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
PSS008673 — — 6,586 individuals — European Italy (South Europe) UKB —
PSS008008 — — 1,803 individuals — East Asian China (East Asia) UKB —
PSS013474 681,L02.51, L02.61, L03.0 —
[
  • 145 cases
  • , 17,825 controls
]
,
45.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013475 681,L02.51, L02.61, L03.0 —
[
  • 145 cases
  • , 17,825 controls
]
,
45.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013476 681,L02.51, L02.61, L03.0 —
[
  • 145 cases
  • , 17,825 controls
]
,
45.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS004516 — —
[
  • 63 cases
  • , 6,434 controls
]
 — African unspecified — UKB —
PSS004517 — —
[
  • 38 cases
  • , 1,666 controls
]
 — East Asian — UKB —
PSS004518 — —
[
  • 690 cases
  • , 24,215 controls
]
 — European non-white British ancestry UKB —
PSS004519 — —
[
  • 148 cases
  • , 7,683 controls
]
 — South Asian — UKB —
PSS004520 — —
[
  • 2,222 cases
  • , 65,203 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS007792 — — 2,440 individuals — African American or Afro-Caribbean Carribean UKB —
PSS013477 681,L02.51, L02.61, L03.0 —
[
  • 145 cases
  • , 17,825 controls
]
,
45.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS013478 681,L02.51, L02.61, L03.0 —
[
  • 145 cases
  • , 17,825 controls
]
,
45.58 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008447 — — 1,189 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009119 — — 4,093 individuals — European Poland (NE Europe) UKB —
PSS008896 — — 3,853 individuals — African unspecified Nigeria (West Africa) UKB —
PSS009345 — — 19,807 individuals — European UK (+ Ireland) UKB —
PSS008227 — — 6,213 individuals — South Asian India (South Asia) UKB —