MCID: ADN039

Adenosine Triphosphate, Elevated, of Erythrocytes malady

Genetic diseases (common) category

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

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48OMIM, 34MalaCards
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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:48 102900

Aliases & Classifications for Adenosine Triphosphate, Elevated, of Erythrocytes

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48OMIM
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Classifications:

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


Aliases & Descriptions:

adenosine triphosphate, elevated, of erythrocytes 48


Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

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Symptoms for Adenosine Triphosphate, Elevated, of Erythrocytes

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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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65UniProtKB/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:

65
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet