MCID: ADN039

Adenosine Triphosphate, Elevated, of Erythrocytes malady

Genetic diseases (common) category

Summaries for Adenosine Triphosphate, Elevated, of Erythrocytes

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Looking for an antibody for researching adenosine triphosphate, elevated, of erythrocytes?

PKLR antibody
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:46 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 46


Classifications:

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


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:

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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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UniProtKB/Swiss-Prot genetic disease variations for Adenosine Triphosphate, Elevated, of Erythrocytes:

63
id Symbol AA change Variation ID SNP ID
1PKLRp.Gly37GluVAR_011435

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

7
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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Expression patterns in normal tissues for genes affiliated with Adenosine Triphosphate, Elevated, of Erythrocytes

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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Sources for Adenosine Triphosphate, Elevated, of Erythrocytes

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet