MCID: ADN039
MIFTS: 12

Adenosine Triphosphate, Elevated, of Erythrocytes malady

Genetic diseases (common) category

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

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MalaCards based summary: Adenosine Triphosphate, Elevated, of Erythrocytes and has symptoms including autosomal dominant inheritance, polycythemia and abnormality of metabolism/homeostasis. 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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Adenosine Triphosphate, Elevated, of Erythrocytes, Aliases & Descriptions:

Name: Adenosine Triphosphate, Elevated, of Erythrocytes 47 11 24


Classifications:

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


External Ids:

OMIM47 102900

Related Diseases for Adenosine Triphosphate, Elevated, of Erythrocytes

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Symptoms for Adenosine Triphosphate, Elevated, of Erythrocytes

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Symptoms by clinical synopsis from OMIM:

102900

Clinical features from OMIM:

102900

HPO human phenotypes related to Adenosine Triphosphate, Elevated, of Erythrocytes:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 polycythemia HP:0001901
3 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Adenosine Triphosphate, Elevated, of Erythrocytes

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Drug clinical trials:

Search ClinicalTrials for Adenosine Triphosphate, Elevated, of Erythrocytes

Search NIH Clinical Center for Adenosine Triphosphate, Elevated, of Erythrocytes

Genetic Tests for Adenosine Triphosphate, Elevated, of Erythrocytes

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Genetic tests related to Adenosine Triphosphate, Elevated, of Erythrocytes:

id Genetic test Affiliating Genes
1 Adenosine Triphosphate, Elevated, of Erythrocytes24

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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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:

7
id Gene Variation 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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Search GEO for disease gene expression data for Adenosine Triphosphate, Elevated, of Erythrocytes.

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
  • Proteins
  • Kits and Assays

Sources for Adenosine Triphosphate, Elevated, of Erythrocytes

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet