PASLI Disease
type: Thing
description: human disease
additional property: PropertyValue
  property ID: P31
  value: rare disease
additional property: PropertyValue
  property ID: P31
  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: autosomal dominant disease
additional property: PropertyValue
  property ID: P279
  value: combined immunodeficiency
additional property: PropertyValue
  property ID: P460
  value: activated PI3K delta syndrome
additional property: PropertyValue
  property ID: P492
  value: 616005
additional property: PropertyValue
  property ID: P699
  value: DOID:0111949
additional property: PropertyValue
  property ID: P1748
  value: C176703
additional property: PropertyValue
  property ID: P1995
  value: medical genetics
additional property: PropertyValue
  property ID: P2293
  value: PIK3R1
additional property: PropertyValue
  property ID: P2293
  value: PIK3CD
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_397596
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0111949
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0111949
additional property: PropertyValue
  property ID: P2892
  value: C4014934
additional property: PropertyValue
  property ID: P4317
  value: 11983
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0014453
additional property: PropertyValue
  property ID: P6366
  value: 2776141744
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 8
      unique citations norm: 0.003
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 8
  monthly pageviews: 0
  yearly pageviews: 19
  pageview trend:
    m: 2026-06
    v: 17
  pageview trend:
    m: 2026-05
    v: 2
  tier: established
claims:
  P31:
    value: Q929833
    source count: 0
    confidence: 0.0
    value label: rare disease
  P31:
    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q18553439
    source count: 1
    confidence: 0.2
    value label: autosomal dominant disease
  P279:
    value: Q5150906
    source count: 1
    confidence: 0.2
    value label: combined immunodeficiency
  P460:
    value: Q25098828
    source count: 1
    confidence: 0.2
    value label: activated PI3K delta syndrome
  P492:
    value: 616005
    source count: 1
    confidence: 0.2
  P699:
    value: DOID:0111949
    source count: 1
    confidence: 0.2
  P1748:
    value: C176703
    source count: 0
    confidence: 0.0
  P1995:
    value: Q1071953
    source count: 1
    confidence: 0.2
    value label: medical genetics
  P2293:
    value: Q20969988
    source count: 3
    confidence: 0.6
    value label: PIK3R1
  P2293:
    value: Q14887732
    source count: 1
    confidence: 0.2
    value label: PIK3CD
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_397596
    source count: 0
    confidence: 0.0
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0111949
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0111949
    source count: 1
    confidence: 0.2
  P2892:
    value: C4014934
    source count: 1
    confidence: 0.2
  P4317:
    value: 11983
    source count: 0
    confidence: 0.0
  P5270:
    value: MONDO_0014453
    source count: 0
    confidence: 0.0
  P6366:
    value: 2776141744
    source count: 0
    confidence: 0.0
citations:
  source: ClinGen
  stated in qid: Q64403342
  retrieved: 2022-01-25
citations:
  source: Identifiers.org
  stated in qid: Q16335166
citations:
  source: Disease Ontology
  stated in qid: Q5282129
  retrieved: 2020-11-30
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-08-07
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
citations:
  source: A human immunodeficiency caused by mutations in the PIK3R1 gene
  stated in qid: Q34129000
citations:
  source: Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology
  stated in qid: Q55671189
meta:
  wikidata id: Q17152451
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/pasli-disease
  markdown url: https://4ort.xyz/entity/pasli-disease.md
  facts url summary: https://4ort.xyz/entity/pasli-disease/facts.json
  facts url standard: https://4ort.xyz/entity/pasli-disease/facts.json
  facts url full: https://4ort.xyz/entity/pasli-disease/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-14T10:18:09.975361Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:39:43.864010+00:00Z