MCID: PHK001

Phka1-Related Phosphorylase Kinase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Phka1-Related Phosphorylase Kinase Deficiency

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Aliases & Descriptions for Phka1-Related Phosphorylase Kinase Deficiency:

Name: Phka1-Related Phosphorylase Kinase Deficiency 23
Phka1-Related Glycogen Storage Disease Type Ix 23
 
Glycogen Storage Disease Type Ixd 23

Classifications:



Summaries for Phka1-Related Phosphorylase Kinase Deficiency

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MalaCards based summary: Phka1-Related Phosphorylase Kinase Deficiency, also known as phka1-related glycogen storage disease type ix, is related to muscle glycogenosis. An important gene associated with Phka1-Related Phosphorylase Kinase Deficiency is PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1).

Related Diseases for Phka1-Related Phosphorylase Kinase Deficiency

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Diseases related to Phka1-Related Phosphorylase Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscle glycogenosis11.9

Symptoms for Phka1-Related Phosphorylase Kinase Deficiency

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Drugs & Therapeutics for Phka1-Related Phosphorylase Kinase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Phka1-Related Phosphorylase Kinase Deficiency

Genetic Tests for Phka1-Related Phosphorylase Kinase Deficiency

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Genetic tests related to Phka1-Related Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phka1-Related Phosphorylase Kinase Deficiency23 PHKA1

Anatomical Context for Phka1-Related Phosphorylase Kinase Deficiency

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Animal Models for Phka1-Related Phosphorylase Kinase Deficiency or affiliated genes

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Publications for Phka1-Related Phosphorylase Kinase Deficiency

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Variations for Phka1-Related Phosphorylase Kinase Deficiency

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Expression for genes affiliated with Phka1-Related Phosphorylase Kinase Deficiency

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Search GEO for disease gene expression data for Phka1-Related Phosphorylase Kinase Deficiency.

Pathways for genes affiliated with Phka1-Related Phosphorylase Kinase Deficiency

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GO Terms for genes affiliated with Phka1-Related Phosphorylase Kinase Deficiency

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Sources for Phka1-Related Phosphorylase Kinase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet