MCID: GLY041

Glycogen Storage Disease, Type Ixa2 malady

Summaries for Glycogen Storage Disease, Type Ixa2

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46OMIM, 32MalaCards
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MalaCards: Glycogen Storage Disease, Type Ixa2 An important gene associated with Glycogen Storage Disease, Type Ixa2 is PHKA2 (phosphorylase kinase, alpha 2 (liver)).

Description from OMIM:46 306000

Aliases & Classifications for Glycogen Storage Disease, Type Ixa2

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46OMIM
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Aliases & Descriptions:

glycogen storage disease, type ixa2 46


Related Diseases for Glycogen Storage Disease, Type Ixa2

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Clinical Features for Glycogen Storage Disease, Type Ixa2

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46OMIM
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Clinical features from OMIM:

306000

Drugs & Therapeutics for Glycogen Storage Disease, Type Ixa2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease, Type Ixa2

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Anatomical Context for Glycogen Storage Disease, Type Ixa2

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Animal Models for Glycogen Storage Disease, Type Ixa2 or affiliated genes

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Publications for Glycogen Storage Disease, Type Ixa2

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Genetic Variations for Glycogen Storage Disease, Type Ixa2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease, Type Ixa2:

62 (show all 17)
id Symbol AA change Variation ID SNP ID
1PHKA2p.His132ProVAR_006177
2PHKA2p.His132TyrVAR_006178
3PHKA2p.Arg186CysVAR_006180
4PHKA2p.Arg186HisVAR_006181
5PHKA2p.Asp299GlyVAR_006183
6PHKA2p.Thr1114IleVAR_006185
7PHKA2p.Pro1205LeuVAR_006186
8PHKA2p.Lys189GluVAR_012269
9PHKA2p.Gly193ValVAR_012271
10PHKA2p.Arg295HisVAR_012272
11PHKA2p.Pro399SerVAR_012273
12PHKA2p.Glu1125LysVAR_012276
13PHKA2p.Gly1207TrpVAR_012277
14PHKA2p.Pro498LeuVAR_062394
15PHKA2p.Pro869ArgVAR_062395
16PHKA2p.Arg916TrpVAR_062396
17PHKA2p.Met1113IleVAR_062398

Expression for genes affiliated with Glycogen Storage Disease, Type Ixa2

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease, Type Ixa2

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Pathways for genes affiliated with Glycogen Storage Disease, Type Ixa2

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Compounds for genes affiliated with Glycogen Storage Disease, Type Ixa2

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GO Terms for genes affiliated with Glycogen Storage Disease, Type Ixa2

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Products for genes affiliated with Glycogen Storage Disease, Type Ixa2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease, Type Ixa2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet