MCID: GLY005
MIFTS: 42

Glycogen Storage Disease Vi malady

Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Cardiovascular diseases, Endocrine diseases categories

Aliases & Classifications for Glycogen Storage Disease Vi

About this section

Aliases & Descriptions for Glycogen Storage Disease Vi:

Name: Glycogen Storage Disease Vi 49 10 11 21 12 67
Glycogen Storage Disease Type Vi 10 21 23 47 65 36
Glycogen Storage Disease 6 45 22 24 67
Hers Disease 45 22 23 67
Gsd Vi 21 22 23
Gsd6 45 23 67
Hepatic Glycogen Phosphorylase Deficiency 10 23
Phosphorylase Deficiency Glycogen-Storage Disease of Liver 45
Hepatophosphorylase Deficiency Glycogenosis 10
Liver Phosphorylase Deficiency Syndrome 23
 
Glycogen Storage Disease Type 6 45
Liver Phosphorylase Deficiency 67
Phosphorylase, Glycogen, Liver 11
Autoimmune Hypoparathyroidism 65
Glycogen Storage Disease Vib 67
Hers' Disease 10
Gsd Type Vi 23
Gsd-Vi 67
Gsdiv 22


Classifications:



External Ids:

OMIM49 232700
Disease Ontology10 DOID:2754
ICD9CM29 271.0
SNOMED-CT59 29291001, 237971004
MeSH36 D006013
MedGen34 C0017925

Summaries for Glycogen Storage Disease Vi

About this section
NIH Rare Diseases:45 Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly.  symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly when an individual does not eat for a long time.  symptoms improve significantly as individuals with this condition get older.  glycogen storage disease type 6 is caused by mutations in the pygl gene and is inherited in an autosomal recessive manner. last updated: 12/4/2012

MalaCards based summary: Glycogen Storage Disease Vi, also known as glycogen storage disease type vi, is related to glycogen storage disease and prostate cancer, and has symptoms including hypoglycemia, short stature and autosomal recessive inheritance. An important gene associated with Glycogen Storage Disease Vi is PYGL (Phosphorylase, Glycogen, Liver), and among its related pathways are Cardiac muscle contraction and Translocation of GLUT4 to the plasma membrane. Affiliated tissues include liver, skeletal muscle and heart.

Disease Ontology:10 A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.

Genetics Home Reference:23 Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.

UniProtKB/Swiss-Prot:67 Glycogen storage disease 6: A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected.

Description from OMIM:49 232700

GeneReviews summary for gsd6

Related Diseases for Glycogen Storage Disease Vi

About this section

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Iiia Glycogen Storage Disease Iv
Glycogen Storage Disease Xv Glycogen Storage Disease X
Glycogen Storage Disease Ib Glycogen Storage Disease Ic
Glycogen Storage Disease Vii glycogen storage disease vi
Glycogen Storage Disease Ixc Glycogen Storage Disease Xii
Glycogen Storage Disease Xiii Glycogen Storage Disease Ia
Glycogen Storage Disease Ii Glycogen Storage Disease Ix
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease10.3
2prostate cancer10.3
3neutropenia, severe congenital 4, autosomal recessive10.1G6PC, PYGL
4glycogen storage disease iv10.1
5glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form10.1
6glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form10.1
7glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form10.1
8glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form10.1
9glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form10.1
10glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form10.1
11glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form10.1
12cerebral cavernous malformation, familial10.1MYH6, MYH7
13myopia10.1MYH6, MYH7
14organic acidemia10.0MYH6, MYH7
15holt-oram syndrome10.0MYH6, MYH7
16cardiovascular organ benign neoplasm10.0G6PC, PYGL, PYGM
17lung giant cell carcinoma10.0CHGA, PYGM
18granuloma annulare10.0G6PC, PYGL, PYGM
19robinow syndrome10.0MYH6, MYH7
20cardiomyopathy, familial hypertrophic10.0MYH6, MYH7
21factor xiii deficiency10.0PYGB, PYGL, PYGM
22septate vagina9.9MYH6, MYH7
23hypophosphatemic rickets9.9
24duchenne muscular dystrophy9.9
25rickets9.9
26muscular dystrophy9.9
27cardiomyopathy9.9
28glycogen storage disease due to liver glycogen phosphorylase deficiency9.9
29waardenburg's syndrome9.9FOS, G6PC
30multiple endocrine neoplasia 19.8CHGA, PYGM
31glycogen storage disease iiia9.8G6PC, PYGB, PYGL, PYGM
32fructose-1,6-bisphosphatase deficiency9.8G6PC, PYGB, PYGL, PYGM
33sudden infant death syndrome9.7CHGA, FOS, G6PC
34dystonia, dopa-responsive, with or without hyperphenylalaninemia8.8CHGA, FOS, G6PC, MYH6, MYH7, PYGB

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



Diseases related to glycogen storage disease vi

Symptoms for Glycogen Storage Disease Vi

About this section

Symptoms by clinical synopsis from OMIM:

232700

Clinical features from OMIM:

232700

HPO human phenotypes related to Glycogen Storage Disease Vi:

(show all 7)
id Description Frequency HPO Source Accession
1 hypoglycemia hallmark (90%) HP:0001943
2 short stature hallmark (90%) HP:0004322
3 autosomal recessive inheritance HP:0000007
4 hypoglycemia HP:0001943
5 hepatomegaly HP:0002240
6 increased hepatic glycogen content HP:0006568
7 postnatal growth retardation HP:0008897

Drugs & Therapeutics for Glycogen Storage Disease Vi

About this section

Drugs for Glycogen Storage Disease Vi (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Capecitabineapproved, investigationalPhase 21179154361-50-960953
Synonyms:
(1-(5-Deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-carbamic acid pentyl ester
154361-50-9
158798-73-3
5'-Deoxy-5-fluoro-N-((pentyloxy)carbonyl)cytidine
5'-deoxy-5-fluoro-N-[(pentyloxy)carbonyl]cytidine
AC1L1U83
AC1Q4KU8
Ambap154361-50-9
C110904
C12650
C15H22FN3O6
CAPE
CAPECITABINE
CHEBI:31348
CHEMBL1773
CID60953
Capecitabin
Capecitabina
Capecitabine
Capecitabine (JAN/USAN/INN)
Capecitabine [USAN]
Capecitabinum
Capecitibine
Capiibine
Carbamic acid, (1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinyl)-, pentyl ester
Caxeta
 
D01223
DB01101
FT-0082472
HSDB 7656
LS-59070
MolPort-005-938-254
N(4)-Pentyloxycarbonyl-5'-deoxy-5-fluorocytidine
Pentyl 1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-1,2-dihydro-2-oxo-4-pyrimidinecarbamate
Pentyl [1-(5-deoxy-beta-D-ribofuranosyl)-5-fluoro-2-oxo-1,2-dihydropyrimidin-4-yl]carbamate
R-340
R340
RG-340
Ro 09-1978
Ro 09-1978/000
Ro-09-1978
Ro-09-1978/000
S1156_Selleck
UNII-6804DJ8Z9U
Xabine
Xeloda
Xeloda (TN)
Xeloda, Captabin, Capecitabine
ZINC03806413
capecitabina
capecitabine
capecitabinum
pentyl N-[1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-methyloxolan-2-yl]-5-fluoro-2-oxopyrimidin-4-yl]carbamate
2
Azacitidineapproved, investigationalPhase 2344320-67-29444
Synonyms:
2-(beta-D-Ribofuranosyl)-4-amino-1,3,5-triazin-2-one
320-67-2
4-Amino-1-(beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-traizin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-triazine-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-S-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one
4-Amino-1-beta-d-ribofuranosyl-1,3,5-triazin-2(1H)-one
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triaz
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
4-amino-1-beta-L-ribofuranosyl-1,3,5-triazin-2(1H)-one
5 AZC
5 Azacytidine
5-AC
5-AZAC
5-AZCR
5-Azacytidine
5-aza-CR
5-azacitidine
5-azacytidine
5-azacytidine, Mylosar, Ladakamycin, Vidaza, Azacitidine
5AzaC
A 2385
A1287_SIGMA
A2385_SIGMA
AC1L1T1Y
Antibiotic U 18496
Azacitidina
Azacitidina [INN-Spanish]
Azacitidine
Azacitidine (JAN/USAN/INN)
Azacitidine [USAN:INN]
Azacitidinum
Azacitidinum [INN-Latin]
Azacytidine
BCBcMAP01_000083
BRN 0620461
BSPBio_003157
C11262
CCRIS 60
CHEBI:2038
CHEMBL1489
CID9444
CPD000857239
D001374
D03021
DB00928
DivK1c_000125
EINECS 206-280-2
EU-0100035
FT-0081170
HMS1921J22
HMS2092D08
HMS500G07
HSDB 6879
IDI1_000125
InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1
 
Jsp005945
KBio1_000125
KBio2_001742
KBio2_002556
KBio2_004310
KBio2_005124
KBio2_006878
KBio2_007692
KBio3_002657
KBio3_003034
KBioGR_001444
KBioGR_002556
KBioSS_001742
KBioSS_002565
LS-1189
Ladakamycin
Lopac0_000035
MLS001333121
MLS001333122
MLS002153249
MolMap_000062
Mylosar
NCGC00090851-01
NCGC00090851-02
NCGC00090851-03
NCGC00090851-04
NCGC00090851-08
NCGC00178234-01
NCI-C01569
NINDS_000125
NS-17
NSC 102816
NSC-102816
NSC102816
Pharmion Brand of Azacitidine
S1782_Selleck
SAM002264595
SMR000857239
SPBio_000892
SPECTRUM1502111
ST056940
Spectrum2_000786
Spectrum3_001509
Spectrum4_000922
Spectrum5_001166
Spectrum_001262
TL80073599
U 18496
U-18496
UNII-M801H13NRU
Vidaza
Vidaza (TN)
WR-183027
ZINC03861768
cMAP_000082
mylo sar
pyrimidine antimetabolite: inhibits nucleic acid replication
s-Triazin-2(1H)-one, 4-amino-1-beta-D-ribofuranosyl- (8CI)
wr 183027
3
Docetaxelapproved, investigational, Approved May 1996Phase 21792114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docefrez
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
4
Cyclophosphamideapproved, investigationalPhase 1252550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
5
rituximabapprovedPhase 11514174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
6
MesnaPhase 12333375-50-6598
Synonyms:
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
 
CoM
Coenzyme M
HS-CoM
7
Mentholapproved17482216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
8
Anastrozoleapproved, investigational252120511-73-12187
Synonyms:
.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)
120511-73-1
2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)
2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile
AC-4234
AC1L1D49
Anastrazole
Anastrole
Anastrozol
Anastrozole
Anastrozole (JAN/USAN/INN)
Anastrozole [USAN:INN:BAN]
Arimidex
Arimidex (TN)
Arimidex (Zeneca)
Arimidex, Anastrozole
Asiolex
Astra brand of anastrozole
AstraZeneca brand of anastrozole
C08159
C090450
C17H19N5
CHEBI:2704
CHEMBL1399
CID2187
CPD000466301
 
D00960
DB01217
HMS2052M11
HMS2089N10
HSDB 7462
I06-0021
ICI D1033
ICI-D 1033
ICI-D1033
LS-29563
MLS000759396
MLS001424217
MolPort-005-933-078
NCGC00164619-01
NSC719344
S1188_Selleck
SAM001246525
SBB066057
SMR000466301
UNII-2Z07MYW1AZ
ZD 1033
ZD-1033
ZD1033
ZINC00000941
Zeneca ZD 1033
Zeneca brand of anastrozole
alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
anastrazole
anastrozole
9Insulin, Globin Zinc4069
10insulin4069

Interventional clinical trials:

(show all 14)
idNameStatusNCT IDPhase
1Efficacy of Web-based Pain Self-management for Adolescents With Juvenile Idiopathic ArthritisActive, not recruitingNCT01541917Phase 3
2Psychoeducational Approach to Improve Health in LupusCompletedNCT00000417Phase 2
3A Study of a New Combination and Schedule of Chemotherapy Drugs for the Treatment of Head and Neck CancerCompletedNCT00148122Phase 2
4MGCD0103 Administered in Combination With Azacitidine (Vidaza®) to Subjects With Relapsed or Refractory Hodgkin or Non-Hodgkin LymphomaTerminatedNCT00543582Phase 2
5Hematopoietic Stem Cell Transplant in Devic's DiseaseRecruitingNCT00787722Phase 1
6Psychosocial Treatment Intervention in Persons Newly Diagnosed With Rheumatoid Arthritis or DiabetesCompletedNCT01066130
7Biomarker for Glycogen Storage DiseasesRecruitingNCT02385162
8Ex Vivo T-Cell Depletion of Mobilized Peripheral Blood Stem Cells Via CD34-SelectionRecruitingNCT01189786
9Efficacy of a Disease Management Program in Very Old Patients With Heart FailureRecruitingNCT01076465
10Study of Glycogen Storage Disease Expression in CarriersRecruitingNCT02057731
11Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease PopulationRecruitingNCT02338817
12A Randomized Trial of an Intensive Education Intervention Using a Network of Involved Diabetic Patients (Peer Educators) to Improve Glycemic Control of Type 2 Diabetic PatientsActive, not recruitingNCT01485913
13Glycosade v UCCS in the Dietary Management of Hepatic GSDNot yet recruitingNCT02318966
14Patient's Anastrozole Compliance to Therapy ProgrammeTerminatedNCT00555867

Search NIH Clinical Center for Glycogen Storage Disease Vi


Cochrane evidence based reviews: Glycogen Storage Disease Type VI

Genetic Tests for Glycogen Storage Disease Vi

About this section

Genetic tests related to Glycogen Storage Disease Vi:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Vi22 PYGL
2 Glycogen Storage Disease, Type Vi24

Anatomical Context for Glycogen Storage Disease Vi

About this section

MalaCards organs/tissues related to Glycogen Storage Disease Vi:

33
Liver, Skeletal muscle, Heart

Animal Models for Glycogen Storage Disease Vi or affiliated genes

About this section

Publications for Glycogen Storage Disease Vi

About this section

Articles related to Glycogen Storage Disease Vi:

idTitleAuthorsYear
1
The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. (2883891)
1987

Variations for Glycogen Storage Disease Vi

About this section

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

67
id Symbol AA change Variation ID SNP ID
1PYGLp.Asn339SerVAR_007908
2PYGLp.Asn377LysVAR_007909

Clinvar genetic disease variations for Glycogen Storage Disease Vi:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1PYGLNM_002863.4(PYGL): c.1768+1G> Asingle nucleotide variantPathogenicrs113993982GRCh37Chr 14, 51378873: 51378873
2PYGLNM_002863.4(PYGL): c.529-1G> Csingle nucleotide variantPathogenicrs113993974GRCh37Chr 14, 51390819: 51390819
3PYGLNM_002863.4(PYGL): c.1131C> G (p.Asn377Lys)single nucleotide variantPathogenicrs113993977GRCh37Chr 14, 51382651: 51382651
4PYGLNM_002863.4(PYGL): c.1620+1G> Asingle nucleotide variantPathogenicrs113993981GRCh37Chr 14, 51379746: 51379746
5PYGLNM_002863.4(PYGL): c.44_45insGAGAAGCGGCGGCAGATCAG (p.Ser15Argfs)insertionPathogenicrs786204785GRCh37Chr 14, 51411077: 51411078
6PYGLNM_002863.4(PYGL): c.1648dupC (p.Leu550Profs)duplicationPathogenicrs529502292GRCh37Chr 14, 51378994: 51378994
7PYGLNM_002863.4(PYGL): c.1947C> A (p.Tyr649Ter)single nucleotide variantPathogenicrs150547274GRCh37Chr 14, 51378470: 51378470
8PYGLNM_002863.4(PYGL): c.1195C> T (p.Arg399Ter)single nucleotide variantPathogenicrs113993978GRCh37Chr 14, 51382587: 51382587
9PYGLNM_002863.4(PYGL): c.1366G> A (p.Val456Met)single nucleotide variantPathogenicrs113993979GRCh37Chr 14, 51382091: 51382091
10PYGLNM_002863.4(PYGL): c.1471C> T (p.Arg491Cys)single nucleotide variantPathogenicrs113993980GRCh37Chr 14, 51381466: 51381466
11PYGLNM_002863.4(PYGL): c.1895A> T (p.Asn632Ile)single nucleotide variantPathogenicrs113993983GRCh37Chr 14, 51378522: 51378522
12PYGLNM_002863.4(PYGL): c.1900G> C (p.Asp634His)single nucleotide variantPathogenicrs35026927GRCh37Chr 14, 51378517: 51378517
13PYGLNM_002863.4(PYGL): c.2017G> A (p.Glu673Lys)single nucleotide variantPathogenicrs113993984GRCh37Chr 14, 51376773: 51376773
14PYGLNM_002863.4(PYGL): c.2023T> A (p.Ser675Thr)single nucleotide variantPathogenicrs113993985GRCh37Chr 14, 51376767: 51376767
15PYGLNM_002863.4(PYGL): c.2024C> T (p.Ser675Leu)single nucleotide variantPathogenicrs113993986GRCh37Chr 14, 51376766: 51376766
16PYGLNM_002863.4(PYGL): c.2042A> C (p.Lys681Thr)single nucleotide variantPathogenicrs113993987GRCh37Chr 14, 51376748: 51376748
17PYGLNM_002863.4(PYGL): c.2461T> C (p.Tyr821His)single nucleotide variantPathogenicrs113993988GRCh37Chr 14, 51372193: 51372193
18PYGLNM_002863.4(PYGL): c.280C> T (p.Arg94Ter)single nucleotide variantPathogenicrs113993973GRCh37Chr 14, 51404519: 51404519
19PYGLNM_002863.4(PYGL): c.38A> C (p.Gln13Pro)single nucleotide variantPathogenicrs113993972GRCh37Chr 14, 51411084: 51411084
20PYGLNM_002863.4(PYGL): c.698G> A (p.Gly233Asp)single nucleotide variantPathogenicrs113993975GRCh37Chr 14, 51387748: 51387748
21PYGLNM_002863.4(PYGL): c.1016A> G (p.Asn339Ser)single nucleotide variantPathogenicrs113993976GRCh37Chr 14, 51383436: 51383436
22PYGLNM_002863.4(PYGL): c.1969+1_1969+4delGTACdeletionPathogenicGRCh37Chr 14, 51378444: 51378447

Expression for genes affiliated with Glycogen Storage Disease Vi

About this section
Search GEO for disease gene expression data for Glycogen Storage Disease Vi.

Pathways for genes affiliated with Glycogen Storage Disease Vi

About this section

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

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5MYH6, MYH7
29.5MYH6, MYH7
39.2PYGB, PYGL, PYGM
49.0CHGA, FOS
59.0CHGA, FOS
6
Show member pathways
8.8G6PC, PYGB, PYGL, PYGM
7
Show member pathways
8.8G6PC, PYGB, PYGL, PYGM
8
Show member pathways
8.8G6PC, PYGB, PYGL, PYGM
9
Show member pathways
8.8G6PC, PYGB, PYGL, PYGM
108.8G6PC, PYGB, PYGL, PYGM
11
Show member pathways
8.0FOS, G6PC, PYGB, PYGL, PYGM

GO Terms for genes affiliated with Glycogen Storage Disease Vi

About this section

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

idNameGO IDScoreTop Affiliating Genes
1myosin filamentGO:00329829.9MYH6, MYH7
2muscle myosin complexGO:00058599.7MYH6, MYH7
3stress fiberGO:00017259.7MYH6, MYH7
4myosin complexGO:00164599.5MYH6, MYH7
5sarcomereGO:00300179.4MYH6, MYH7
6myofibrilGO:00300169.2MYH6, MYH7

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1regulation of the force of heart contractionGO:000202610.0MYH6, MYH7
2striated muscle contractionGO:00069419.9MYH6, MYH7
3adult heart developmentGO:00075129.9MYH6, MYH7
4ventricular cardiac muscle tissue morphogenesisGO:00550109.9MYH6, MYH7
5ATP metabolic processGO:00460349.8MYH6, MYH7
6regulation of blood pressureGO:00082179.6CHGA, MYH6
7cardiac muscle contractionGO:00600489.5MYH6, MYH7
8glucose metabolic processGO:00060069.4PYGB, PYGL, PYGM
9regulation of heart rateGO:00020279.4MYH6, MYH7
10glycogen metabolic processGO:00059779.3G6PC, PYGB, PYGL, PYGM
11response to cAMPGO:00515919.2FOS, PYGM
12muscle filament slidingGO:00300499.2MYH6, MYH7
13glycogen catabolic processGO:00059809.1G6PC, PYGB, PYGL, PYGM
14carbohydrate metabolic processGO:00059758.9G6PC, PYGB, PYGL, PYGM

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1AMP bindingGO:001620810.3PYGL, PYGM
2actin-dependent ATPase activityGO:003089810.0MYH6, MYH7
3microfilament motor activityGO:000014610.0MYH6, MYH7
4glycogen phosphorylase activityGO:00081849.8PYGB, PYGL, PYGM
5phosphorylase activityGO:00046459.8PYGB, PYGL, PYGM
6motor activityGO:00037749.5MYH6, MYH7
7carbohydrate bindingGO:00302469.4PYGB, PYGL, PYGM
8pyridoxal phosphate bindingGO:00301709.1PYGB, PYGL, PYGM
9drug bindingGO:00081448.9PYGB, PYGL, PYGM

Sources for Glycogen Storage Disease Vi

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet