GSD9B
MCID: GLY097
MIFTS: 44

Glycogen Storage Disease Ixb (GSD9B)

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

Aliases & Classifications for Glycogen Storage Disease Ixb

MalaCards integrated aliases for Glycogen Storage Disease Ixb:

Name: Glycogen Storage Disease Ixb 57 12 72 29 6 15 70
Gsd9b 57 12 72
Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive 57 13
Glycogenosis Due to Liver and Muscle Phosphorylase Kinase Deficiency 12 58
Gsd Due to Liver and Muscle Phosphorylase Kinase Deficiency 12 58
Glycogen Storage Disease Type Ixb 12 58
Glycogen Storage Disease Type 9b 12 58
Glycogenosis Type Ixb 12 58
Glycogenosis Type 9b 12 58
Gsd Type Ixb 12 58
Gsd Type 9b 12 58
Gsd Ixb 57 12
Glycogen Storage Disease Due to Liver and Muscle Phosphorylase Kinase Deficiency 58
Glycogenosis of Liver and Muscle, Autosomal Recessive 57
Phosphorylase Kinase Deficiency of Liver and Muscle 72
Storage Disease, Glycogen, Type Ixb 39
Glycogen Storage Disease 9b 72
Gsd-Ixb 72

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
glycogen storage disease ixb:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111041
OMIM® 57 261750
MeSH 44 D006008
ICD10 32 E74.0
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 71 C0543514
Orphanet 58 ORPHA79240
UMLS 70 C0543514

Summaries for Glycogen Storage Disease Ixb

UniProtKB/Swiss-Prot : 72 Glycogen storage disease 9B: A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity.

MalaCards based summary : Glycogen Storage Disease Ixb, also known as gsd9b, is related to phosphorylase kinase deficiency and glycogen storage disease, and has symptoms including diarrhea An important gene associated with Glycogen Storage Disease Ixb is PHKB (Phosphorylase Kinase Regulatory Subunit Beta), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Affiliated tissues include liver and skeletal muscle, and related phenotypes are muscle weakness and hepatomegaly

Disease Ontology : 12 A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has material basis in compound heterozygous mutation in the PHKB gene on chromosome 16q12.

More information from OMIM: 261750

Related Diseases for Glycogen Storage Disease Ixb

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Ixb via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 phosphorylase kinase deficiency 29.1 PHKG2 PHKG1 PHKB PHKA2 PHKA1 LOC112449713
2 glycogen storage disease 28.6 PYGL PHKG2 PHKB PHKA2 PHKA1 AGL
3 glycogen storage disease ixa1 11.0
4 glycogen storage disease viii 9.8 PHKA2 PHKA1
5 carbohydrate metabolic disorder 9.7 PHKA2 AGL
6 glycogen storage disease due to liver phosphorylase kinase deficiency 9.7 PHKG2 PHKA2
7 glycogen storage disease vi 9.7 PYGL AGL
8 glycogen storage disease ia 9.6 PHKG2 PHKA2 AGL
9 glycogen storage disease v 9.5 PYGL PHKA1 AGL
10 glycogen storage disease ixa 9.1 PYGL PHKG2 PHKB PHKA2 PHKA1
11 glycogen storage disease ix 8.8 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
12 glycogen storage disease, type ixd 8.5 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1

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



Diseases related to Glycogen Storage Disease Ixb

Symptoms & Phenotypes for Glycogen Storage Disease Ixb

Human phenotypes related to Glycogen Storage Disease Ixb:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 hepatomegaly 31 HP:0002240
3 short stature 31 HP:0004322
4 increased muscle glycogen content 31 HP:0009051
5 diarrhea 31 HP:0002014
6 generalized hypotonia 31 HP:0001290
7 increased hepatic glycogen content 31 HP:0006568

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
hepatomegaly

Muscle Soft Tissue:
hypotonia
mild weakness

Laboratory Abnormalities:
phosphorylase kinase deficiency in liver and muscle
glycogen accumulation in both liver and muscle

Abdomen Gastrointestinal:
diarrhea

Growth Height:
short stature, postnatal onset

Clinical features from OMIM®:

261750 (Updated 05-Apr-2021)

UMLS symptoms related to Glycogen Storage Disease Ixb:


diarrhea

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

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.52 PHKA2 PHKG2
2 Decreased viability GR00221-A-2 10.52 PHKA2 PHKB PHKG1 PHKA1 PHKG2
3 Decreased viability GR00221-A-3 10.52 PHKA2 PHKB PHKG1 PHKA1
4 Decreased viability GR00221-A-4 10.52 PHKA2 PHKB PHKG1
5 Decreased viability GR00342-S-1 10.52 PHKA2
6 Decreased viability GR00342-S-2 10.52 PHKA2
7 Decreased viability GR00342-S-3 10.52 PHKA2
8 Decreased viability GR00402-S-2 10.52 PHKG2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.89 PHKA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.89 PHKG2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.89 PHKA1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.89 PHKA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.89 PHKG2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.89 PHKG2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.89 PHKA1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.89 PHKB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.89 PHKB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.89 PHKA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.89 PHKA1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.89 PHKG2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.89 PHKB
22 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.89 PHKB
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.89 PHKB
24 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.89 PHKB
25 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.89 PHKG2
26 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.96 PHKG2
27 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 PHKA1 PHKA2 PHKB PYGL

Drugs & Therapeutics for Glycogen Storage Disease Ixb

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

Genetic Tests for Glycogen Storage Disease Ixb

Genetic tests related to Glycogen Storage Disease Ixb:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Ixb 29 PHKB

Anatomical Context for Glycogen Storage Disease Ixb

MalaCards organs/tissues related to Glycogen Storage Disease Ixb:

40
Liver, Skeletal Muscle

Publications for Glycogen Storage Disease Ixb

Articles related to Glycogen Storage Disease Ixb:

(show all 16)
# Title Authors PMID Year
1
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). 57 6
9215682 1997
2
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. 57
33317799 2020
3
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. 6
25070466 2015
4
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. 57
25266922 2014
5
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. 6
21646031 2011
6
Glycogen storage disease type IX: High variability in clinical phenotype. 57
17689125 2007
7
Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). 6
9402963 1997
8
Adult muscle phosphorylase "b" kinase deficiency. 57
3083284 1986
9
Glycogen phosphorylase b kinase deficiency in three siblings. 57
6422139 1983
10
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. 57
6285226 1982
11
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. 57
6938920 1981
12
Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency. 57
168880 1975
13
Hepatic phosphorylase deficiency. Its differentiation from other hepatic glycogenoses. 57
4523806 1974
14
Loss of cyclic 3'5'-AMP dependent kinase and reduction of phosphorylase kinase in skeletal muscle of a girl with deactivated phosphorylase and glycogenosis of liver and muscle. 57
4322108 1970
15
Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys. 61
280544 1978
16
Glycogen storage diseases. 61
788807 1976

Variations for Glycogen Storage Disease Ixb

ClinVar genetic disease variations for Glycogen Storage Disease Ixb:

6 (show top 50) (show all 157)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHKB PHKB, 1-BP INS Insertion Pathogenic 13617 GRCh37:
GRCh38:
2 PHKB NM_000293.3(PHKB):c.306-2A>G SNV Pathogenic 13619 rs797044442 GRCh37: 16:47536900-47536900
GRCh38: 16:47502989-47502989
3 PHKB NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter) SNV Pathogenic 13620 rs121918021 GRCh37: 16:47630336-47630336
GRCh38: 16:47596425-47596425
4 PHKB NC_000016.10:g.(?_47669195)_(47669437_?)del Deletion Pathogenic 583761 GRCh37: 16:47703106-47703348
GRCh38: 16:47669195-47669437
5 PHKB NM_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del Deletion Pathogenic 998114 GRCh37:
GRCh38:
6 PHKB NM_000293.3:c.(?_-1)_(1068+1_1069-1)del Deletion Pathogenic 998115 GRCh37:
GRCh38:
7 PHKB NM_000293.3(PHKB):c.1364-2A>G SNV Pathogenic 998116 GRCh37: 16:47644735-47644735
GRCh38: 16:47610824-47610824
8 PHKB NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) SNV Pathogenic 620526 rs149244943 GRCh37: 16:47697635-47697635
GRCh38: 16:47663724-47663724
9 PHKB NM_000293.3(PHKB):c.2923T>C (p.Tyr975His) SNV Pathogenic 13621 rs111734407 GRCh37: 16:47730319-47730319
GRCh38: 16:47696408-47696408
10 PHKB NM_000293.3(PHKB):c.1127-2A>G SNV Pathogenic 1029777 GRCh37: 16:47628046-47628046
GRCh38: 16:47594135-47594135
11 PHKB NM_000293.3(PHKB):c.3141_3144del (p.Gln1048fs) Deletion Pathogenic 1031509 GRCh37: 16:47732494-47732497
GRCh38: 16:47698583-47698586
12 PHKB NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) SNV Pathogenic/Likely pathogenic 13618 rs34667348 GRCh37: 16:47684830-47684830
GRCh38: 16:47650919-47650919
13 PHKB NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) SNV Likely pathogenic 632256 rs371296953 GRCh37: 16:47627432-47627432
GRCh38: 16:47593521-47593521
14 PHKB NC_000016.10:g.47614206_47644831del Deletion Likely pathogenic 834047 GRCh37:
GRCh38:
15 PHKB NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) SNV Conflicting interpretations of pathogenicity 319365 rs137869198 GRCh37: 16:47733211-47733211
GRCh38: 16:47699300-47699300
16 PHKB NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) SNV Conflicting interpretations of pathogenicity 281127 rs34667348 GRCh37: 16:47684830-47684830
GRCh38: 16:47650919-47650919
17 PHKB NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) SNV Conflicting interpretations of pathogenicity 198068 rs139738333 GRCh37: 16:47549436-47549436
GRCh38: 16:47515525-47515525
18 PHKB NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) SNV Conflicting interpretations of pathogenicity 319335 rs144211929 GRCh37: 16:47545661-47545661
GRCh38: 16:47511750-47511750
19 PHKB NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) SNV Conflicting interpretations of pathogenicity 289493 rs758004953 GRCh37: 16:47675541-47675541
GRCh38: 16:47641630-47641630
20 PHKB NM_000293.3(PHKB):c.1459-9G>T SNV Conflicting interpretations of pathogenicity 194467 rs201995780 GRCh37: 16:47674937-47674937
GRCh38: 16:47641026-47641026
21 PHKB NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) SNV Conflicting interpretations of pathogenicity 319333 rs144486825 GRCh37: 16:47536996-47536996
GRCh38: 16:47503085-47503085
22 PHKB NM_000293.3(PHKB):c.1364-10T>C SNV Conflicting interpretations of pathogenicity 391211 rs199899291 GRCh37: 16:47644727-47644727
GRCh38: 16:47610816-47610816
23 PHKB NM_000293.3(PHKB):c.1746A>G (p.Leu582=) SNV Conflicting interpretations of pathogenicity 319348 rs111970242 GRCh37: 16:47683064-47683064
GRCh38: 16:47649153-47649153
24 LOC112449713 , PHKB NM_000293.3(PHKB):c.270C>T (p.Cys90=) SNV Conflicting interpretations of pathogenicity 319330 rs139431568 GRCh37: 16:47533770-47533770
GRCh38: 16:47499859-47499859
25 PHKB NM_000293.3(PHKB):c.574A>G (p.Ile192Val) SNV Uncertain significance 516456 rs117218785 GRCh37: 16:47549492-47549492
GRCh38: 16:47515581-47515581
26 PHKB NM_000293.3(PHKB):c.1748G>A (p.Ser583Asn) SNV Uncertain significance 566221 rs1567341136 GRCh37: 16:47683066-47683066
GRCh38: 16:47649155-47649155
27 LOC112449713 , PHKB NM_000293.3(PHKB):c.245C>G (p.Ala82Gly) SNV Uncertain significance 577258 rs754835322 GRCh37: 16:47533745-47533745
GRCh38: 16:47499834-47499834
28 PHKB NM_000293.3(PHKB):c.2136G>A (p.Pro712=) SNV Uncertain significance 319353 rs200274360 GRCh37: 16:47694670-47694670
GRCh38: 16:47660759-47660759
29 PHKB NM_000293.3(PHKB):c.*991A>G SNV Uncertain significance 886899 GRCh37: 16:47734268-47734268
GRCh38: 16:47700357-47700357
30 PHKB NM_000293.3(PHKB):c.*1007G>A SNV Uncertain significance 886900 GRCh37: 16:47734284-47734284
GRCh38: 16:47700373-47700373
31 PHKB NM_000293.3(PHKB):c.*1105T>C SNV Uncertain significance 886901 GRCh37: 16:47734382-47734382
GRCh38: 16:47700471-47700471
32 PHKB NM_000293.3(PHKB):c.*1253A>G SNV Uncertain significance 886902 GRCh37: 16:47734530-47734530
GRCh38: 16:47700619-47700619
33 PHKB NM_000293.3(PHKB):c.8G>C (p.Gly3Ala) SNV Uncertain significance 887974 GRCh37: 16:47495269-47495269
GRCh38: 16:47461358-47461358
34 PHKB NM_000293.3(PHKB):c.30A>C (p.Glu10Asp) SNV Uncertain significance 887975 GRCh37: 16:47495291-47495291
GRCh38: 16:47461380-47461380
35 LOC112449713 , PHKB NM_000293.3(PHKB):c.185T>C (p.Leu62Pro) SNV Uncertain significance 887976 GRCh37: 16:47533685-47533685
GRCh38: 16:47499774-47499774
36 LOC112449713 , PHKB NM_000293.3(PHKB):c.305+11G>T SNV Uncertain significance 257177 rs368293023 GRCh37: 16:47533816-47533816
GRCh38: 16:47499905-47499905
37 PHKB NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln) SNV Uncertain significance 888051 GRCh37: 16:47630301-47630301
GRCh38: 16:47596390-47596390
38 PHKB NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr) SNV Uncertain significance 888052 GRCh37: 16:47630430-47630430
GRCh38: 16:47596519-47596519
39 PHKB NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys) SNV Uncertain significance 888113 GRCh37: 16:47727305-47727305
GRCh38: 16:47693394-47693394
40 PHKB NM_000293.3(PHKB):c.2832A>G (p.Arg944=) SNV Uncertain significance 888114 GRCh37: 16:47727355-47727355
GRCh38: 16:47693444-47693444
41 PHKB NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile) SNV Uncertain significance 888115 GRCh37: 16:47732371-47732371
GRCh38: 16:47698460-47698460
42 PHKB NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys) SNV Uncertain significance 888116 GRCh37: 16:47732485-47732485
GRCh38: 16:47698574-47698574
43 PHKB NM_000293.3(PHKB):c.*1709G>A SNV Uncertain significance 888172 GRCh37: 16:47734986-47734986
GRCh38: 16:47701075-47701075
44 PHKB NM_000293.3(PHKB):c.*1839C>G SNV Uncertain significance 888173 GRCh37: 16:47735116-47735116
GRCh38: 16:47701205-47701205
45 PHKB NM_000293.3(PHKB):c.*1915A>G SNV Uncertain significance 888174 GRCh37: 16:47735192-47735192
GRCh38: 16:47701281-47701281
46 PHKB NM_000293.3(PHKB):c.*2075G>A SNV Uncertain significance 888175 GRCh37: 16:47735352-47735352
GRCh38: 16:47701441-47701441
47 PHKB NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn) SNV Uncertain significance 940765 GRCh37: 16:47727314-47727314
GRCh38: 16:47693403-47693403
48 PHKB NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala) SNV Uncertain significance 967935 GRCh37: 16:47703291-47703291
GRCh38: 16:47669380-47669380
49 PHKB NM_000293.3(PHKB):c.1405C>T (p.Arg469Cys) SNV Uncertain significance 983107 GRCh37: 16:47644778-47644778
GRCh38: 16:47610867-47610867
50 PHKB NM_000293.3(PHKB):c.1972-7G>A SNV Uncertain significance 381212 rs765332910 GRCh37: 16:47694410-47694410
GRCh38: 16:47660499-47660499

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ixb:

72
# Symbol AA change Variation ID SNP ID
1 PHKB p.Ala118Pro VAR_015536 rs121918022

Expression for Glycogen Storage Disease Ixb

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

Pathways for Glycogen Storage Disease Ixb

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
2
Show member pathways
13.21 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
3
Show member pathways
12.65 PHKG2 PHKG1 PHKB PHKA2 PHKA1
4
Show member pathways
12.62 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
5
Show member pathways
12.55 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
6
Show member pathways
12.33 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
7
Show member pathways
12.23 PHKG2 PHKG1 PHKA2 PHKA1
8 12.1 PHKG2 PHKG1 PHKB PHKA2 PHKA1
9 11.57 PHKG2 PHKG1 PHKB
10 11.46 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
11 10.72 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1

GO Terms for Glycogen Storage Disease Ixb

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.5 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
2 secretory granule lumen GO:0034774 9.16 PYGL AGL
3 phosphorylase kinase complex GO:0005964 9.02 PHKG2 PHKG1 PHKB PHKA2 PHKA1

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

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.77 PHKG2 PHKG1 PHKB PHKA2 PHKA1
2 carbohydrate metabolic process GO:0005975 9.7 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
3 generation of precursor metabolites and energy GO:0006091 9.56 PHKG2 PHKB PHKA2 PHKA1
4 glycogen biosynthetic process GO:0005978 9.5 PHKG2 PHKG1 AGL
5 glycogen catabolic process GO:0005980 9.5 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1
6 glycogen metabolic process GO:0005977 9.17 PYGL PHKG2 PHKG1 PHKB PHKA2 PHKA1

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.55 PYGL PHKB PHKA2 PHKA1 AGL
2 calmodulin binding GO:0005516 9.35 PHKG2 PHKG1 PHKB PHKA2 PHKA1
3 tau-protein kinase activity GO:0050321 9.26 PHKG2 PHKG1
4 phosphorylase kinase activity GO:0004689 8.92 PHKG2 PHKG1 PHKA2 PHKA1

Sources for Glycogen Storage Disease Ixb

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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