Trait: stomach disorder

Trait Information
Identifier MONDO_0004298
Description A disease involving the stomach.
Trait categories
Digestive system disorder
Other disease
Synonyms 6 synonyms
  • disease of stomach
  • disease or disorder of stomach
  • disorder of stomach
  • stomach disease
  • stomach disease or disorder
  • stomach disorder
Child trait(s) 3 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 "stomach disorder" 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)
PGS001851
(portability-PLR_530.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Esophagitis, GERD and related diseases esophagitis,
gastroesophageal reflux disease		 13,855
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001851/ScoringFiles/PGS001851.txt.gz
PGS002063
(portability-ldpred2_530.1)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Esophagitis, GERD and related diseases esophagitis,
gastroesophageal reflux disease		 836,413
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002063/ScoringFiles/PGS002063.txt.gz
PGS002299
(PRS3_gastric)
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Gastric cancer gastric cancer 3
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002299/ScoringFiles/PGS002299.txt.gz
PGS004468
(disease.K21.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K21 (Gastroesophageal reflux disease) gastroesophageal reflux disease 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004468/ScoringFiles/PGS004468.txt.gz
PGS004470
(disease.K29.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K29 (Gastritis and duodenitis) gastritis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004470/ScoringFiles/PGS004470.txt.gz
PGS004538
(meta.K21.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K21 (Gastroesophageal reflux disease) gastroesophageal reflux disease 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004538/ScoringFiles/PGS004538.txt.gz
PGS004540
(meta.K29.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 K29 (Gastritis and duodenitis) gastritis 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004540/ScoringFiles/PGS004540.txt.gz
PGS005161
(PRS-GC)
 PGP000711 |
Zhu M et al. PLoS Med (2025)
 Stomach cancer gastric cancer 12
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005161/ScoringFiles/PGS005161.txt.gz
PGS018480
(TPMI_151_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of stomach gastric cancer 2
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018480/ScoringFiles/PGS018480.txt.gz
PGS018481
(TPMI_151_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of stomach gastric cancer 130,571
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018481/ScoringFiles/PGS018481.txt.gz
PGS018482
(TPMI_151_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of stomach gastric cancer 488,012
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018482/ScoringFiles/PGS018482.txt.gz
PGS018483
(TPMI_151_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of stomach gastric cancer 983,814
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018483/ScoringFiles/PGS018483.txt.gz
PGS018484
(TPMI_151_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Cancer of stomach gastric cancer 991,822
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018484/ScoringFiles/PGS018484.txt.gz
PGS019954
(PRS12_GC)
 PGP000844 |
Xu HM et al. JAMA Netw Open (2024)
 Gastric Cancer gastric cancer 12
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS019954/ScoringFiles/PGS019954.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
PPM009698 PGS001851
(portability-PLR_530.1)
 PSS009326|
European Ancestry|
19,594 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.047 [0.033, 0.0609] sex, age, birth date, deprivation index, 16 PCs —
PPM009699 PGS001851
(portability-PLR_530.1)
 PSS009100|
European Ancestry|
4,045 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0513 [0.0205, 0.0821] sex, age, birth date, deprivation index, 16 PCs —
PPM009700 PGS001851
(portability-PLR_530.1)
 PSS008654|
European Ancestry|
6,525 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0309 [0.0066, 0.0551] sex, age, birth date, deprivation index, 16 PCs —
PPM009701 PGS001851
(portability-PLR_530.1)
 PSS008428|
Greater Middle Eastern Ancestry|
1,165 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0366 [-0.0214, 0.0943] sex, age, birth date, deprivation index, 16 PCs —
PPM009702 PGS001851
(portability-PLR_530.1)
 PSS008208|
South Asian Ancestry|
6,172 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0278 [0.0028, 0.0527] sex, age, birth date, deprivation index, 16 PCs —
PPM009703 PGS001851
(portability-PLR_530.1)
 PSS007990|
East Asian Ancestry|
1,774 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0121 [-0.0348, 0.0588] sex, age, birth date, deprivation index, 16 PCs —
PPM009704 PGS001851
(portability-PLR_530.1)
 PSS007773|
African Ancestry|
2,440 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0244 [-0.0154, 0.0642] sex, age, birth date, deprivation index, 16 PCs —
PPM009705 PGS001851
(portability-PLR_530.1)
 PSS008877|
African Ancestry|
3,836 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0371 [0.0054, 0.0688] sex, age, birth date, deprivation index, 16 PCs —
PPM011366 PGS002063
(portability-ldpred2_530.1)
 PSS009326|
European Ancestry|
19,594 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0644 [0.0504, 0.0783] sex, age, birth date, deprivation index, 16 PCs —
PPM011367 PGS002063
(portability-ldpred2_530.1)
 PSS009100|
European Ancestry|
4,045 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0532 [0.0223, 0.084] sex, age, birth date, deprivation index, 16 PCs —
PPM011368 PGS002063
(portability-ldpred2_530.1)
 PSS008654|
European Ancestry|
6,525 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0447 [0.0204, 0.0689] sex, age, birth date, deprivation index, 16 PCs —
PPM011369 PGS002063
(portability-ldpred2_530.1)
 PSS008428|
Greater Middle Eastern Ancestry|
1,165 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0342 [-0.0238, 0.092] sex, age, birth date, deprivation index, 16 PCs —
PPM011370 PGS002063
(portability-ldpred2_530.1)
 PSS008208|
South Asian Ancestry|
6,172 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0522 [0.0273, 0.0771] sex, age, birth date, deprivation index, 16 PCs —
PPM011371 PGS002063
(portability-ldpred2_530.1)
 PSS007990|
East Asian Ancestry|
1,774 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0273 [-0.0196, 0.074] sex, age, birth date, deprivation index, 16 PCs —
PPM011372 PGS002063
(portability-ldpred2_530.1)
 PSS007773|
African Ancestry|
2,440 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.034 [-0.0059, 0.0737] sex, age, birth date, deprivation index, 16 PCs —
PPM011373 PGS002063
(portability-ldpred2_530.1)
 PSS008877|
African Ancestry|
3,836 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Esophagitis, GERD and related diseases — — Partial Correlation (partial-r): 0.0136 [-0.0181, 0.0454] sex, age, birth date, deprivation index, 16 PCs —
PPM013028 PGS002299
(PRS3_gastric)
 PSS009662|
European Ancestry|
272 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Gastric cancer — AUROC: 0.56 [0.54, 0.58] — — —
PPM013036 PGS002299
(PRS3_gastric)
 PSS009662|
European Ancestry|
272 individuals
 PGP000328 |
Choi J et al. Int J Cancer (2020)
 Reported Trait: Gastric cancer — — Hazard ratio (HR top 5% vs average): 1.27 [0.75, 2.15] Age, birth cohort, genotyping array, top 10 PCs for ancestry and sex (for nonsex specific cancer only) —
PPM020583 PGS004468
(disease.K21.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K21 (Gastro-oesophageal reflux disease) OR: 1.19096 — — — —
PPM020585 PGS004470
(disease.K29.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K29 (Gastritis and duodenitis) OR: 1.14876 — — — —
PPM020653 PGS004538
(meta.K21.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K21 (Gastro-oesophageal reflux disease) OR: 1.26524 — — — —
PPM020655 PGS004540
(meta.K29.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: K29 (Gastritis and duodenitis) OR: 1.22886 — — — —
PPM022398 PGS005161
(PRS-GC)
 PSS011938|
East Asian Ancestry|
100,219 individuals
 PGP000711 |
Zhu M et al. PLoS Med (2025)
 Reported Trait: Stomach Cancer HR: 1.27 [1.18, 1.38]
β: 0.239		 C-index: 0.572 — Age,Sex (if applicable),Region,Top 10 genetic ancestry principal components The HR and C-index values were derived from Cox proportional hazards regression models.
PPM036662 PGS018480
(TPMI_151_Lassosum2)
 PSS012383|
East Asian Ancestry|
15,552 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of stomach — AUROC: 0.61614 R²: 0.00612 sex, age, array, PCs 1-10 —
PPM036663 PGS018481
(TPMI_151_LDpred2)
 PSS012382|
East Asian Ancestry|
15,552 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of stomach — AUROC: 0.61559 R²: 0.00612 sex, age, array, PCs 1-10 —
PPM036664 PGS018482
(TPMI_151_MegaPRS)
 PSS012384|
East Asian Ancestry|
15,552 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of stomach — AUROC: 0.61564 R²: 0.00613 sex, age, array, PCs 1-10 —
PPM036665 PGS018483
(TPMI_151_PRS-CS)
 PSS012385|
East Asian Ancestry|
15,552 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of stomach — AUROC: 0.61565 R²: 0.00612 sex, age, array, PCs 1-10 —
PPM036666 PGS018484
(TPMI_151_SBayesR)
 PSS012386|
East Asian Ancestry|
15,552 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Cancer of stomach — AUROC: 0.61721 R²: 0.00624 sex, age, array, PCs 1-10 —
PPM038148 PGS019954
(PRS12_GC)
 PSS013840|
East Asian Ancestry|
50,316 individuals
 PGP000844 |
Xu HM et al. JAMA Netw Open (2024)
 Reported Trait: Gastric cancer HR: 1.13 [1.03, 1.24] — — age, sex, regions, PC —
PPM038149 PGS019954
(PRS12_GC)
 PSS013841|
East Asian Ancestry|
1,394 individuals
 PGP000844 |
Xu HM et al. JAMA Netw Open (2024)
 Reported Trait: Gastric cancer HR: 1.14 [1.02, 1.28] — — age, sex, PC —

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
PSS012382 151, 209.23, 230.2, V10.04,C16, C7A.0, D00.2, Z85.02 —
[
  • 230 cases
  • , 15,322 controls
]
,
43.27 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS011938 ICD-10: C16 Median = 11.33 years
Range = [10.18, 12.26] years
[
  • 745 cases
  • , 99,474 controls
]
,
42.8 % Male samples
 Mean = 53.69 years
Sd = 11.01 years		 East Asian
(Chinese)		 — CKB —
PSS012383 151, 209.23, 230.2, V10.04,C16, C7A.0, D00.2, Z85.02 —
[
  • 230 cases
  • , 15,322 controls
]
,
43.27 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012384 151, 209.23, 230.2, V10.04,C16, C7A.0, D00.2, Z85.02 —
[
  • 230 cases
  • , 15,322 controls
]
,
43.27 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012385 151, 209.23, 230.2, V10.04,C16, C7A.0, D00.2, Z85.02 —
[
  • 230 cases
  • , 15,322 controls
]
,
43.27 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012386 151, 209.23, 230.2, V10.04,C16, C7A.0, D00.2, Z85.02 —
[
  • 230 cases
  • , 15,322 controls
]
,
43.27 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009662 gastric cancer (ICD- 9 = 151 or ICD-10 = C16) — 272 individuals — European — UKB —
PSS009100 — — 4,045 individuals — European Poland (NE Europe) UKB —
PSS008428 — — 1,165 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009326 — — 19,594 individuals — European UK (+ Ireland) UKB —
PSS008654 — — 6,525 individuals — European Italy (South Europe) UKB —
PSS008208 — — 6,172 individuals — South Asian India (South Asia) UKB —
PSS008877 — — 3,836 individuals — African unspecified Nigeria (West Africa) UKB —
PSS013840 — — 50,316 individuals,
42.79 % Male samples
 — East Asian — CKB —
PSS013841 — — 1,394 individuals,
62.2 % Male samples
 — East Asian — NR —
PSS007990 — — 1,774 individuals — East Asian China (East Asia) UKB —
PSS007773 — — 2,440 individuals — African American or Afro-Caribbean Carribean UKB —
PSS011364 — — 56,192 individuals — European — UKB —