MCID: PHS016

Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive malady

Summaries for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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33OMIM, 22MalaCards
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MalaCards: Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive, also known as deficiency of phosphorylase kinase, is related to phosphorylase kinase deficiency of liver and muscle. An important gene associated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive is PHKB (phosphorylase kinase, beta). Affiliated tissues include liver.

OMIM: 261750

Aliases & Descriptions for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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33OMIM, 43UMLS
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phosphorylase kinase deficiency of liver and muscle, autosomal recessive 33
deficiency of phosphorylase kinase 43

Related Diseases for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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13GeneCards, 14GeneDecks
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Diseases related to phosphorylase kinase deficiency of liver and muscle, autosomal recessive by text searches and GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1phosphorylase kinase deficiency of liver and muscle7.0

Clinical Features for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

Sources:
33OMIM
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Clinical features from OMIM: 261750

Drugs & Therapeutics for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials
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Approved drugs:

Search CenterWatch for phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Drug clinical trials:

Search ClinicalTrials for phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Search NIH Clinical Center for phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Search CenterWatch for phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Genetic Tests for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

Anatomical Context for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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22MalaCards
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MalaCards organs/tissues related to phosphorylase kinase deficiency of liver and muscle, autosomal recessive:

22
Liver

Phenotypes for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

Publications for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

Expression for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive

Pathways for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

Compounds for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

GO Terms for genes affiliated with Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

Sources for Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal...

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS