MCID: ADN039

Adenosine Triphosphate, Elevated, of Erythrocytes malady

Genetic diseases (common) category
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Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

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47OMIM, 33MalaCards
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MalaCards: Adenosine Triphosphate, Elevated, of Erythrocytes An important gene associated with Adenosine Triphosphate, Elevated, of Erythrocytes is PKLR (pyruvate kinase, liver and RBC).

Description from OMIM:47 102900

Aliases & Classifications for Adenosine Triphosphate, Elevated, of Erythrocytes

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47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

adenosine triphosphate, elevated, of erythrocytes 47


Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

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Symptoms for Adenosine Triphosphate, Elevated, of Erythrocytes

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47OMIM
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Symptoms by clinical synopsis from OMIM:

102900

Clinical features from OMIM:

102900

Drugs & Therapeutics for Adenosine Triphosphate, Elevated, of Erythrocytes

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Adenosine Triphosphate, Elevated, of Erythrocytes

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Anatomical Context for Adenosine Triphosphate, Elevated, of Erythrocytes

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Animal Models for Adenosine Triphosphate, Elevated, of Erythrocytes or affiliated genes

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Publications for Adenosine Triphosphate, Elevated, of Erythrocytes

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Variations for Adenosine Triphosphate, Elevated, of Erythrocytes

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Adenosine Triphosphate, Elevated, of Erythrocytes:

64
id Symbol AA change Variation ID SNP ID
1PKLRp.Gly37GluVAR_011435

Clinvar genetic disease variations for Adenosine Triphosphate, Elevated, of Erythrocytes:

1
id Gene Name Type Significance SNP ID Assembly Location
1PKLRNM_000298.5(PKLR): c.110G> A (p.Gly37Glu)single nucleotide variantPathogenicrs118204087GRCh37Chr 1, 155270062: 155270062

Expression for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

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Pathways for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

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Compounds for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

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GO Terms for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

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Products for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Adenosine Triphosphate, Elevated, of Erythrocytes

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet