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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/OMIM/609712
http://purl.bioontology.org/ontology/OMIM/609712
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Preferred Name | PYRUVATE KINASE, LIVER AND RED BLOOD CELL |
Synonyms |
PK1
ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
PYRUVATE KINASE DEFICIENCY
PKR
PYRUVATE KINASE, RED CELL TYPE
PYRUVATE KINASE, LIVER TYPE
PYRUVATE KINASE DEFICIENCY, AMISH TYPE
PKRL
PKLR
PYRUVATE KINASE 1
PKL
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
PK1
ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES
PYRUVATE KINASE DEFICIENCY
PKR
PYRUVATE KINASE, RED CELL TYPE
PYRUVATE KINASE, LIVER TYPE
PYRUVATE KINASE DEFICIENCY, AMISH TYPE
PKRL
PKLR
PYRUVATE KINASE 1
PKL
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prefLabel | PYRUVATE KINASE, LIVER AND RED BLOOD CELL
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Gene Symbol |
PKLR
PK1
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notation | 609712
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Has allelic variant |
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OMIM MimType Value | star
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Semantic type UMLS property | |
OMIM Entry Type | 1
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type | |
MIMTYPEMEANING | Gene with known sequence
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Gene Locus | 1q21
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Phenotype of |
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tui |
T047
T033
T028
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cui |
C4017201
C1418609
C0340968
C1863224
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