Trait: alcoholic liver cirrhosis

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000802
Description FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING.
Trait category
Cancer
Digestive system disorder
Synonyms 15 synonyms
  • Alcoholic Cirrhosis
  • Alcoholic cirrhosis of liver
  • Alcoholic cirrhosis of liver (disorder)
  • Alcoholic cirrhosis of liver (disorder) [Ambiguous]
  • Laennec's cirrhosis
  • Laennec's cirrhosis, alcoholic
  • Liver Cirrhosis, Alcoholic
  • Portal Cirrhosis
  • Portal cirrhosis
  • Portal cirrhosis (disorder)
  • Portal cirrhosis unspecified (disorder)
  • alcoholic cirrhosis
  • alcoholic cirrhosis of liver
  • alcoholic liver cirrhosis
  • portal cirrhosis
Mapped term(s) 15 mapped terms
  • COHD:196463
  • CSP:1754-7677
  • DOID:14018
  • ICD10:K70.3
  • ICD9:571.2
  • MESH:D008104
  • MONDO:0006644
  • MSH:D008104
  • MedDRA:10001618
  • NCIT:C34782
  • NCIt:C34782
  • SCTID:419728003
  • SNOMEDCT:420054005
  • UMLS:C0023891
  • UMLS:C1622502

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000704 HC171 PGP000128 Sinnott-Armstrong N et al. Nat Genet (2021) Alcoholic cirrhosis alcoholic liver cirrhosis 183,271 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000704/ScoringFiles/PGS000704.txt.gz - Check Terms/Licenses

PGS 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 ID) 		Evaluated Score PGS Sample Set ID
(PSS ID) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001596 PGS000704
(HC171)
 PSS000792 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: Alcoholic cirrhosis — AUROC: 0.55471 — Age, sex, PCs(1-10) —
PPM001607 PGS000704
(HC171)
 PSS000793 PGP000128 Sinnott-Armstrong N et al. (2021) Reported Trait: Alcoholic cirrhosis HR: 1.18 [1.11, 1.27] C-index: 0.711 — Age as time scale, sex, batch, PCs(1-10) —

Evaluated Samples

PGS Sample Set ID
(PSS ID) 		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
PSS000792 — — 87,413 individuals — European — UKB —
PSS000793 ICD-10 K70 —
[
  • 845 cases
  • , 134,455 controls
]
 — European
(Finnish)		 — FinnGen —