pyruvate kinase deficiency
type: Thing
description: congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22
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confidence:
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    score pct: 1
    tier: established
    components:
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      sitelinks norm: 0.014
      unique citations: 9
      unique citations norm: 0.004
      monthly pageviews: 161
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  monthly pageviews: 161
  yearly pageviews: 289
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    value label: disorder of glycolysis
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    value label: genetic disease
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    value label: autosomal recessive disease
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value: Pyruvate-Kinase-Deficiency
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confidence: 0.2

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value: C99037
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value: Q103824
source count: 0
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value label: hematology

value: Q18030566
source count: 4
confidence: 0.8
value label: PKLR

value: http://purl.obolibrary.org/obo/DOID_0111077
source count: 1
confidence: 0.2

value: http://identifiers.org/doid/DOID:0111077
source count: 1
confidence: 0.2

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value: C0340968
source count: 1
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value: D55.2
source count: 1
confidence: 0.2

value: pk-deficiency
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value: 7514
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value: Q4099686
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value label: WikiProject Medicine

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value: pyruvate-kinase-deficiency
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value: 1055568225
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value: Pyruvate kinase deficiency
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value: DI-00965
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source: Open Targets Platform
stated in qid: Q113138000
retrieved: 2023-08-24

source: Open Targets Platform
stated in qid: Q113138000
retrieved: 2023-08-24

source: OpenAlex
stated in qid: Q107507571
retrieved: 2022-01-26

source: Identifiers.org
stated in qid: Q16335166

source: Disease Ontology
stated in qid: Q5282129
retrieved: 2020-11-30

source: Monarch Disease Ontology release 2018-06-29
stated in qid: Q55345445
retrieved: 2018-07-28

source: UniProt
stated in qid: Q905695
retrieved: 2019-08-13

source: cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia
stated in qid: Q24562015

wikidata id: Q3043149
domain: rare_disease
level: standard
html url: https://4ort.xyz/entity/pyruvate-kinase-deficiency
markdown url: https://4ort.xyz/entity/pyruvate-kinase-deficiency.md
facts url summary: https://4ort.xyz/entity/pyruvate-kinase-deficiency/facts.json
facts url standard: https://4ort.xyz/entity/pyruvate-kinase-deficiency/facts.json
facts url full: https://4ort.xyz/entity/pyruvate-kinase-deficiency/facts.json
data source: Wikidata (CC0 / public domain)
license: https://creativecommons.org/publicdomain/zero/1.0/
api version: v1
served at: 2026-08-24T12:40:15.690849Z
entity updated at: 2026-05-03T21:19:00.258443+00:00Z
entity created at: 2026-04-11T00:04:55.739055+00:00Z