MCID: GLY001
MIFTS: 25

Glycogen Storage Disease Ix

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Ix

MalaCards integrated aliases for Glycogen Storage Disease Ix:

Name: Glycogen Storage Disease Ix 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050594

Summaries for Glycogen Storage Disease Ix

Disease Ontology : 12 A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity.

MalaCards based summary : Glycogen Storage Disease Ix is related to glycogen storage disease ixc and glycogen storage disease ixb. An important gene associated with Glycogen Storage Disease Ix is PHKG2 (Phosphorylase Kinase Catalytic Subunit Gamma 2), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Affiliated tissues include liver, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Glycogen Storage Disease Ix

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ix:



Diseases related to Glycogen Storage Disease Ix

Symptoms & Phenotypes for Glycogen Storage Disease Ix

GenomeRNAi Phenotypes related to Glycogen Storage Disease Ix according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.8 PHKA2 PHKG2
2 Decreased viability GR00221-A-2 9.8 PHKA1 PHKA2 PHKG2
3 Decreased viability GR00221-A-3 9.8 PHKA1 PHKA2
4 Decreased viability GR00221-A-4 9.8 PHKA2
5 Decreased viability GR00342-S-1 9.8 PHKA2
6 Decreased viability GR00342-S-2 9.8 PHKA2
7 Decreased viability GR00342-S-3 9.8 PHKA2
8 Decreased viability GR00402-S-2 9.8 PHKA1 PHKA2 PHKG2
9 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 PHKA1 PHKA2 PYGL

Drugs & Therapeutics for Glycogen Storage Disease Ix

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Ix

Genetic Tests for Glycogen Storage Disease Ix

Anatomical Context for Glycogen Storage Disease Ix

MalaCards organs/tissues related to Glycogen Storage Disease Ix:

41
Liver

Publications for Glycogen Storage Disease Ix

Variations for Glycogen Storage Disease Ix

Expression for Glycogen Storage Disease Ix

Search GEO for disease gene expression data for Glycogen Storage Disease Ix.

Pathways for Glycogen Storage Disease Ix

Pathways related to Glycogen Storage Disease Ix according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.57 GCG IDUA PHKA1 PHKA2 PHKG2 PYGL
2
Show member pathways
13.06 GCG PHKA1 PHKA2 PHKG2 PYGL
3
Show member pathways
12.39 PHKA1 PHKA2 PHKG2 PYGL
4
Show member pathways
12.3 IDUA PHKA1 PHKA2 PHKG2 PYGL
5
Show member pathways
12.14 PHKA1 PHKA2 PHKG2 PYGL
6
Show member pathways
12.11 PHKA1 PHKA2 PHKG2
7
Show member pathways
11.82 PHKA1 PHKA2 PHKG2
8 11.03 GCG PHKA1 PHKA2 PHKG2 PYGL
9 10.81 PHKA1 PHKA2 PHKG2 PYGL

GO Terms for Glycogen Storage Disease Ix

Cellular components related to Glycogen Storage Disease Ix according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 8.96 GCG PYGL
2 phosphorylase kinase complex GO:0005964 8.8 PHKA1 PHKA2 PHKG2

Biological processes related to Glycogen Storage Disease Ix according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.35 IDUA PHKA1 PHKA2 PHKG2 PYGL
2 generation of precursor metabolites and energy GO:0006091 9.33 PHKA1 PHKA2 PHKG2
3 cellular protein modification process GO:0006464 9.26 PHEX PHKA2
4 glycogen metabolic process GO:0005977 8.92 PHKA1 PHKA2 PHKG2 PYGL

Molecular functions related to Glycogen Storage Disease Ix according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.13 PHKA1 PHKA2 PHKG2
2 phosphorylase kinase activity GO:0004689 8.8 PHKA1 PHKA2 PHKG2

Sources for Glycogen Storage Disease Ix

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....