MCID: GNG009
MIFTS: 60

Gangliosidosis malady

Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Bone diseases categories
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Summaries for Gangliosidosis

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65Wikipedia, 33MalaCards
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Wikipedia:65 Gangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides.... more...

MalaCards: Gangliosidosis, also known as gangliosidoses, is related to tay-sachs disease and gangliosidosis gm1. An important gene associated with Gangliosidosis is HEXA (hexosaminidase A (alpha polypeptide)), and among its related pathways are Glycosphingolipid biosynthesis - ganglio series and Keratan sulfate/keratin metabolism. The compounds Ganglioside GA2 (d18:1/25:0) and Ganglioside GA2 (d18:1/24:0) have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skin, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Aliases & Classifications for Gangliosidosis

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8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 35MeSH
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Classifications:



Aliases & Descriptions:

gangliosidosis 8 10 45
gangliosidoses 8 62
disease, gangliosidosis 8


External Ids:

Disease Ontology8 DOID:2368
SNOMED-CT58 50967008
MeSH35 D005733

Related Diseases for Gangliosidosis

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17GeneCards, 18GeneDecks
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Diseases in the Gm1 Gangliosidosis Type 3 family:

Gangliosidosis Gm1 gangliosidosis
Gangliosidosis Gm2 Gm1 Gangliosidosis Type 1
Gm1 Gangliosidosis Type 2 Gm2 Gangliosidosis, 0 Variant
Gm2-Gangliosidosis, B, B1, Ab Variant Gm2-Gangliosidosis, Ab Variant

Diseases related to Gangliosidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1tay-sachs disease30.9ARSA, GLA, HEXA, HEXB, GM2A, PSAP
2gangliosidosis gm130.7NEU1, PSAP, GLA, GLB1, ARSA, HEXA
3sandhoff disease30.7GM2A, HEXB, HEXA, UGCG, ARSA
4motor neuron disease30.5SMN1, HEXA, HEXB
5lysosomal storage disease30.2CTSA
6dementia30.1ARSA, CHIT1, HEXA
7galactosialidosis30.0CTSA
8spinal muscular atrophy30.0SMN1, HEXA
9leukodystrophy29.9PSAP, GALC
10metachromatic leukodystrophy29.9PSAP, GALC, ARSA
11mucopolysaccharidosis29.9HEXA, HEXB, GLB1, GALNS, ARSA
12fabry disease29.8UGCG, CHIT1, PSAP, GLA, ARSA
13gm1 gangliosidosis type 110.6
14gm1 gangliosidosis type 310.5
15neuronitis10.5
16gm1 gangliosidosis type 210.5
17dystonia10.5
18sandhoff disease, infantile, juvenile, and adult forms10.4
19mongolian spot10.2
20cerebritis10.2
21gm2-gangliosidosis, ab variant10.2
22bronchopulmonary dysplasia10.2
23gangliosidosis gm210.2
24gm2 gangliosidosis, 0 variant10.2
25fucosidosis10.1HEXA
26mucolipidosis10.1ARSA, GLB1
27muscular atrophy10.1
28hepatitis10.1
29neuronal ceroid lipofuscinosis10.1
30niemann-pick disease10.1CHIT1, PSAP
31mucolipidosis ii10.1NEU1, GM2A, PSAP
32protein s deficiency10.0GM2A, SMN1
33gaucher's disease10.0PSAP, CHIT1, UGCG
34gaucher disease type 110.0UGCG, CHIT1, PSAP
35mucopolysaccharidosis iv10.0CTSA, GALNS, GLB1, NEU1
36sphingolipidosis10.0ARSA, GALC, PSAP
37cystic fibrosis10.0SMN1, PTK2B, HEXA, GLB1
38atherosclerosis10.0UGCG, CHIT1, GLA
39metabolic syndrome x10.0HEXA, NEU1, GLA, CTSA, ARSA
40malaria10.0CHIT1, NEU1, PTK2B
41sepsis10.0PSAP, NEU1, PTK2B
42krabbe disease10.0CHIT1, PSAP, GLB1, GALC, ARSA
43melanoma9.9PTK2B, NEU1, GLB1, GALNS, CTSA
44burns9.9
45progressive muscular atrophy9.9
46normal pressure hydrocephalus9.9
47generalized dystonia9.9
48cerebral lipidosis9.9
49duodenitis9.9
50friedreich ataxia9.9

Graphical network of the top 20 diseases related to Gangliosidosis:



Diseases related to gangliosidosis

Symptoms for Gangliosidosis

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Drugs & Therapeutics for Gangliosidosis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Gangliosidosis

Search NIH Clinical Center for Gangliosidosis

Genetic Tests for Gangliosidosis

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Anatomical Context for Gangliosidosis

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33MalaCards
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MalaCards organs/tissues related to Gangliosidosis:

33
Brain, Liver, Skin, Bone, Bone marrow, Cerebellum, Globus pallidus, Testes, Eye, Heart, Retina, Salivary gland, Cortex, Whole blood

Animal Models for Gangliosidosis or affiliated genes

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37MGI
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Publications for Gangliosidosis

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52PubMed
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Articles related to Gangliosidosis:

(show top 50)    (show all 374)
idTitleAuthorsYear
1
GM2 gangliosidosis in British Jacob sheep. (24391178)
2014
2
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. (23337983)
2013
3
Natural history of infantile G(M2) gangliosidosis. (22025593)
2011
4
Rapid and simple polymerase chain reaction-based diagnostic assays for GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japanese domestic cats. (21398459)
2011
5
Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. (21572805)
2011
6
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts. (20409738)
2010
7
Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis. (19765188)
2009
8
Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology. (19166507)
2009
9
Structural bases of GM1 gangliosidosis and Morquio B disease. (19644515)
2009
10
Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis. (18184943)
2008
11
Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus. (18358410)
2008
12
Chemical chaperone therapy: clinical effect in murine G(M1)-gangliosidosis. (17994547)
2007
13
Neuroimaging findings in infantile GM1 gangliosidosis. (17052929)
2006
14
Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice. (15687347)
2005
15
G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis. (15748609)
2005
16
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile. (15991326)
2005
17
Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. (16200419)
2005
18
Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis. (12655116)
2003
19
GM2 gangliosidosis variant B1 neuroradiological findings. (12527987)
2003
20
Molecular and structural studies of the GM2 gangliosidosis 0 variant. (12166653)
2002
21
Naturally occurring mutations in GM2 gangliosidosis: a compendium. (11596984)
2001
22
Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. (10839995)
2000
23
Infantile G(M1) gangliosidosis: complete morphology and histochemistry of two autopsy cases, with particular reference to delayed central nervous system myelination. (10594135)
2000
24
Myelination arrest demonstrated using magnetic resonance imaging in a child with type I GM1 gangliosidosis. (9585685)
1998
25
Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis. (9203065)
1997
26
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. (9302266)
1997
27
Gangliosidosis in emus (Dromaius novaehollandiae). (7677649)
1995
28
Isolation and characterization of major urinary oligosaccharides excreted by a patient with type 3 GM1 gangliosidosis. (1917896)
1991
29
Ovine GM-1 gangliosidosis. (1750516)
1991
30
Molecular and clinical heterogeneity of adult GM2 gangliosidosis. (1840100)
1991
31
Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients. (2138256)
1990
32
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. (2140574)
1990
33
The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity. (2136940)
1990
34
Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype. (2793417)
1989
35
Biochemical basis of type AB GM2 gangliosidosis in a Japanese spaniel. (2949061)
1987
36
Reduced Ca2+ flux in synaptosomes from cats with GM1 gangliosidosis. (3121133)
1987
37
Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature. (3081350)
1986
38
Diagnosis and characterization of GM 2 gangliosidosis type II (Sandhoff disease) by analysis of the accumulating N-acetyl-glucosaminyl oligosaccharides with high performance liquid chromatography. (3955841)
1986
39
GM1 gangliosidosis (type 1) in a cat. (3091002)
1986
40
Characterization of neutral and acidic glycosphingolipids in brains of two patients with GM1 gangliosidosis type 1 and type 2. (3919156)
1985
41
Application of a GM1 ganglioside beta-galactosidase microassay method to diagnosis of GM1 gangliosidosis. (6432371)
1984
42
Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level. (6614006)
1983
43
Neurotransmitter chemistry in feline GM1 gangliosidosis: a model for human ganglioside storage disease. (6126152)
1982
44
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. (6454083)
1981
45
Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features. (6791574)
1981
46
Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon. (7468596)
1981
47
Hepatic beta galactosidase and feline GMI gangliosidosis. (6799849)
1981
48
Leukocyte beta-galactosidase activity in the diagnosis of bovine GM1 gangliosidosis. (405787)
1977
49
Fatty acid composition of cholesterol esters in brains of patients with Schilder's disease, G M1 -gangliosidosis and Tay-Sachs disease, and its possible relationship to the -position fatty acids of lecithin. (5567894)
1971
50
Membranous cytoplasmic bodies from Tay-Sachs disease. Gm-1-gangliosidosis (generalized gangliosidosis). (5656560)
1968

Variations for Gangliosidosis

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Expression for genes affiliated with Gangliosidosis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gangliosidosis

Search GEO for disease gene expression data for Gangliosidosis.

Pathways for genes affiliated with Gangliosidosis

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50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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Pathways related to Gangliosidosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Ganglio Sphingolipid Metabolism38
9.8HEXB, HEXA, GLB1
2
Show member pathways
9.8HEXA, GLB1, HEXB
39.7HEXA, HEXB, GLA
4
Show member pathways
colanic acid building blocks biosynthesis38
N-acetylglucosamine degradation I38
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)38
UDP-D-xylose and UDP-D-glucuronate biosynthesis38
N-acetylglucosamine degradation II38
UDP-N-acetyl-D-glucosamine biosynthesis II38
UDP-N-acetyl-D-galactosamine biosynthesis II38
GDP-L-fucose biosynthesis I (from GDP-D-mannose)38
9.6CHIT1, HEXB, HEXA
59.5HEXB, NEU1, GLB1, HEXA
6
Show member pathways
9.5HEXA, HEXB, GALNS, GLB1
77.2PSAP, GM2A, CTSA, GALC, GALNS, GLB1
8
Show member pathways
6.7GALC, GLB1, GLA, PSAP, GM2A, NEU1
9
Show member pathways
6.0HEXA, ETFA, GM2A, PSAP, NEU1, GLA

Compounds for genes affiliated with Gangliosidosis

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24HMDB, 45Novoseek
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Compounds related to Gangliosidosis according to GeneCards/GeneDecks:

(show top 50)    (show all 199)
idCompoundScoreTop Affiliating Genes
1Ganglioside GA2 (d18:1/25:0)249.7GM2A, NEU1, HEXB, GLB1, HEXA
2Ganglioside GA2 (d18:1/24:0)249.7NEU1, GM2A, HEXA, HEXB, GLB1
3Ganglioside GA2 (d18:1/24:1(15Z))249.7HEXA, HEXB, NEU1, GLB1, GM2A
4Ganglioside GA2 (d18:1/26:0)249.7GLB1, HEXA, HEXB, NEU1, GM2A
5Ganglioside GA2 (d18:1/9Z-18:1)249.7HEXB, NEU1, GLB1, GM2A, HEXA
6Ganglioside GA2 (d18:1/26:1(17Z))249.7HEXA, HEXB, NEU1, GM2A, GLB1
7Ganglioside GA2 (d18:1/22:0)249.7HEXA, HEXB, NEU1, GM2A, GLB1
8Ganglioside GA2 (d18:1/16:0)249.7HEXB, NEU1, GM2A, GLB1, HEXA
9Ganglioside GA2 (d18:1/12:0)249.7HEXA, HEXB, NEU1, GM2A, GLB1
10Ganglioside GA2 (d18:1/20:0)249.7GLB1, HEXA, HEXB, NEU1, GM2A
11Ganglioside GA2 (d18:1/18:0)249.7GLB1, GM2A, HEXA, HEXB, NEU1
12sulfatide459.4ARSA, GLB1, PSAP, GM2A, NEU1
13Ganglioside GM2 (d18:1/9Z-18:1)249.4GM2A, NEU1, HEXB, HEXA, GLB1
14Ganglioside GM2 (d18:1/18:0)249.4HEXB, GLB1, GM2A, NEU1, HEXA
15Ganglioside GM2 (d18:1/12:0)249.3GLB1, HEXA, HEXB, NEU1, GM2A
16Ganglioside GM2 (d18:1/26:0)249.3HEXA, HEXB, NEU1, GM2A, GLB1
17D-Galactose249.3GLA, GLB1, GALC, GALNS
18Ganglioside GM2 (d18:1/26:1(17Z))249.2HEXA, HEXB, NEU1, GM2A, GLB1
19Ganglioside GM2 (d18:1/16:0)249.0HEXA, HEXB, NEU1, GM2A, GLB1
20Trihexosylceramide (d18:1/9Z-18:1)248.5GALC, UGCG, HEXA, GM2A, GLA, HEXB
21Trihexosylceramide (d18:1/26:1(17Z))248.5UGCG, HEXA, HEXB, GM2A, GLA, GALC
22Trihexosylceramide (d18:1/24:0)248.5GALC, GLA, GM2A, HEXB, HEXA, UGCG
23Trihexosylceramide (d18:1/22:0)248.5GM2A, UGCG, HEXA, HEXB, GLA, GALC
24Trihexosylceramide (d18:1/25:0)248.5GM2A, GLA, GALC, UGCG, HEXA, HEXB
25Trihexosylceramide (d18:1/20:0)248.5UGCG, HEXA, HEXB, GM2A, GLA, GALC
26Lactosylceramide (d18:1/24:0)248.5UGCG, HEXA, HEXB, NEU1, GM2A, GALC
27Trihexosylceramide (d18:1/24:1(15Z))248.5UGCG, HEXA, HEXB, GM2A, GLA, GALC
28Lactosylceramide (d18:1/18:0)248.5UGCG, GALC, GM2A, NEU1, HEXB, HEXA
29Trihexosylceramide (d18:1/16:0)248.5GM2A, GLA, GALC, UGCG, HEXA, HEXB
30Lactosylceramide (d18:1/22:0)248.5GALC, GM2A, NEU1, HEXB, HEXA, UGCG
31Trihexosylceramide (d18:1/12:0)248.5UGCG, HEXA, HEXB, GM2A, GLA, GALC
32Trihexosylceramide (d18:1/18:0)248.5UGCG, HEXA, HEXB, GM2A, GLA, GALC
33Galactosylceramide (d18:1/20:0)248.4GALC, UGCG, NEU1, GM2A, GLA, ARSA
34Galactosylceramide (d18:1/22:0)248.3GALC, ARSA, GLA, GM2A, NEU1, UGCG
35Galactosylceramide (d18:1/24:1(15Z))248.3ARSA, GALC, GLA, GM2A, UGCG, NEU1
36Galactosylceramide (d18:1/18:1(9Z))248.3UGCG, ARSA, GALC, GLA, GM2A, NEU1
37Galactosylceramide (d18:1/16:0)248.3UGCG, GALC, GLA, GM2A, NEU1, ARSA
38Galactosylceramide (d18:1/18:0)248.3ARSA, GALC, GLA, GM2A, NEU1, UGCG
39Galactosylceramide (d18:1/26:1(17Z))248.3ARSA, GALC, GLA, GM2A, NEU1, UGCG
40mannose 6-phosphate45 249.2CTSA, GLA, PSAP, GM2A, NEU1, HEXA
41glucosylceramide45 249.1GALC, GLA, PSAP, GLB1, GM2A, CHIT1
42Lactosylceramide (d18:1/12:0)248.1HEXB, GALC, GLB1, GLA, GM2A, NEU1
43Lactosylceramide (d18:1/26:0)248.1GM2A, GLA, GLB1, GALC, NEU1, HEXB
44Lactosylceramide (d18:1/25:0)248.1UGCG, HEXA, HEXB, NEU1, GM2A, GLA
45Lactosylceramide (d18:1/26:1(17Z))248.1UGCG, HEXA, HEXB, NEU1, GM2A, GLA
46Lactosylceramide (d18:1/24:1(15Z))248.1UGCG, HEXA, HEXB, NEU1, GM2A, GLA
47Lactosylceramide (d18:1/16:0)248.1UGCG, HEXA, GALC, GLB1, GLA, GM2A
48ganglioside458.1PSAP, NEU1, HEXB, GLA, HEXA, UGCG
49glycolipid458.1GLA, GM2A, GALC, PSAP, NEU1, HEXB
50Water247.9ARSA, GALC, GLB1, GALNS, GLA, CHIT1

GO Terms for genes affiliated with Gangliosidosis

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16Gene Ontology
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Cellular components related to Gangliosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:0057648.3CHIT1, GLA, GALC, CTSA, ARSA, NEU1
2lysosomal lumenGO:0432027.0ARSA, HEXA, HEXB, NEU1, GM2A, PSAP

Biological processes related to Gangliosidosis according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1hyaluronan catabolic processGO:03021410.0HEXB, HEXA
2lysosome organizationGO:00704010.0HEXB, HEXA
3ganglioside catabolic processGO:00668910.0HEXA, HEXB, GM2A
4lipid storageGO:01991510.0GM2A, HEXB, HEXA
5oligosaccharide catabolic processGO:0093139.9GM2A, NEU1, HEXB
6chondroitin sulfate catabolic processGO:0302079.9HEXB, HEXA
7neuromuscular process controlling balanceGO:0508859.9HEXA, HEXB, GM2A
8keratan sulfate catabolic processGO:0423409.7HEXA, HEXB, GLB1, GALNS
9hyaluronan metabolic processGO:0302129.7HEXB, HEXA
10keratan sulfate metabolic processGO:0423399.7GALNS, GLB1, HEXB, HEXA
11glycosaminoglycan metabolic processGO:0302039.6HEXA, HEXB, GLB1, GALNS
12carbohydrate metabolic processGO:0059759.1GALC, GALNS, GLB1, HEXB, HEXA
13sphingolipid metabolic processGO:0066657.0ARSA, UGCG, CTSA, GALC, GLB1, GLA
14glycosphingolipid metabolic processGO:0066877.0GALC, GLB1, GLA, PSAP, GM2A, NEU1
15small molecule metabolic processGO:0442816.2ETFA, NEU1, HEXB, HEXA, UGCG, GM2A

Molecular functions related to Gangliosidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sulfuric ester hydrolase activityGO:0084849.9ARSA, GALNS
2beta-N-acetylhexosaminidase activityGO:0045639.7GM2A, HEXB, HEXA
3galactoside bindingGO:0169369.7GLB1, GLA

Products for genes affiliated with Gangliosidosis

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  • Antibodies
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Sources for Gangliosidosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet