Bio2Vec

BIO-KNOWLEDGE-GRAPH

A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. Embeddings are generated with Walking RDF and OWL method.

Tay-Sachs disease AB variant

ID: DOID:4795

Type: http://bio2vec.net/ontology/disease

Label: Tay-Sachs disease AB variant

Synonyms: Tay-Sachs disease AB variant

Alternative IDs: als

API: GO

SPARQL: GO

Similar Entities

Tay-Sachs disease AB variant

DOID:4795
gangliosidosis GM2

DOID:3321
Sandhoff disease

DOID:3323
Tay-Sachs disease

DOID:3320
gangliosidosis

DOID:2368
ng T

http://aber-owl.net/drug/CID100004340
HEXDC

http://www.ncbi.nlm.nih.gov/gene/284004
Progressive neurologic deterioration

HP:0002344
fucosidosis

DOID:14500
Glycopeptiduria

HP:0012067
beta-mannosidosis

DOID:3633
Krabbe disease

DOID:10587
GM2-ganglioside accumulation

HP:0003495
juvenile spinal muscular atrophy

DOID:12376
gangliosidosis GM1

DOID:3322
Aspartylglucosaminuria

HP:0012068
Psychomotor deterioration

HP:0002361
chronic toxic polyneuropathy

DOID:7825
GUSBP1

http://www.ncbi.nlm.nih.gov/gene/728411
Type I transferrin isoform profile

HP:0003642
survival motor neuron spinal muscular atrophy

DOID:0060160
chronic metabolic polyneuropathy

DOID:7441
Motor deterioration

HP:0002333
ng T

http://aber-owl.net/drug/CID005289024
CHEBI:63873

http://aber-owl.net/drug/CID056927902
glycoproteinosis

DOID:3343
Progressive psychomotor deterioration

HP:0007272
sphingolipidosis

DOID:1927
2vvn

http://aber-owl.net/drug/CID024808478
chronic polyneuropathy

DOID:5221
Gal-GlcNAc(S)-Gal

http://aber-owl.net/drug/CID156927983
Abnormality of glycosaminoglycan metabolism

HP:0004371
N-acetylchondrosine

http://aber-owl.net/drug/CID100113417
PPT2

http://www.ncbi.nlm.nih.gov/gene/9374
CHEBI:63873

http://aber-owl.net/drug/CID156927902
Oligosacchariduria

HP:0010471
mucosulfatidosis

DOID:0050441
thiamet-G

http://aber-owl.net/drug/CID124748710
2-SP

http://aber-owl.net/drug/CID100086641
MGEA5

http://www.ncbi.nlm.nih.gov/gene/10724
Gal-GlcNAc(S)-Gal

http://aber-owl.net/drug/CID056927983
1 Jak

http://aber-owl.net/drug/CID000446429
chronic progressive external ophthalmoplegia

DOID:12558
mucopolysaccharidosis I

DOID:12802
SCA18

http://www.ncbi.nlm.nih.gov/gene/94008
Mucopolysacchariduria

HP:0008155
Lafora disease

DOID:3534
glycine encephalopathy

DOID:9268
no_name

DOID:13161
Heparan sulfate excretion in urine

HP:0002159
mucopolysaccharidosis VI

DOID:12800
Dysostosis multiplex

HP:0000943
(E)-PugNAc

http://aber-owl.net/drug/CID005486943
Decreased sialylation of N-linked protein glycosylation

HP:0012350
Abnormal protein glycosylation

HP:0012346
postpoliomyelitis syndrome

DOID:4952
TRNL2

http://www.ncbi.nlm.nih.gov/gene/4568
primary amebic meningoencephalitis

DOID:0050242
Danon disease

DOID:0050437
CHEBI:63852

http://aber-owl.net/drug/CID156927982
aH 0

http://aber-owl.net/drug/CID006323212
lysosomal storage disease

DOID:3211
LSPC

http://aber-owl.net/drug/CID100086556
HEXA

http://www.ncbi.nlm.nih.gov/gene/3073
LOC100653061

http://www.ncbi.nlm.nih.gov/gene/100653061
Alpers syndrome

DOID:1442
progressive muscular atrophy

DOID:318
Abnormal isoelectric focusing of serum transferrin

HP:0003160
N-acetylglucosaminolactone

http://aber-owl.net/drug/CID000087901
Galactosuria

HP:0012023
Decreased beta-galactosidase activity

HP:0008166
Abnormality of polysaccharide metabolism

HP:0011012
DCP1A

http://www.ncbi.nlm.nih.gov/gene/55802
Kearns-Sayre syndrome

DOID:12934
TRNY

http://www.ncbi.nlm.nih.gov/gene/4579
Riley-Day syndrome

DOID:11589
no_name

DOID:1668
Increased serum iduronate sulfatase activity

HP:0003538
no_name

DOID:11533
MELAS syndrome

DOID:3687
Tangier disease

DOID:1388
CHEBI:63852

http://aber-owl.net/drug/CID056927982
poliomyelitis

DOID:4953
Lambert-Eaton myasthenic syndrome

DOID:0050214
TRI-AAT9-1

http://www.ncbi.nlm.nih.gov/gene/7202
Abnormality of glycoprotein metabolism

HP:0004367
infantile onset spinocerebellar ataxia

DOID:0050556
Abnormal protein N-linked glycosylation

HP:0012347
myopathy of critical illness

DOID:10569
mucopolysaccharidosis

DOID:12798
olivopontocerebellar atrophy

DOID:14784
Walker-Warburg syndrome

DOID:0050560
mitochondrial disease

DOID:0080013
RALGAPA1

http://www.ncbi.nlm.nih.gov/gene/253959
Alexander disease

DOID:4252
SPG29

http://www.ncbi.nlm.nih.gov/gene/619379
Abnormality of galactoside metabolism

HP:0004342
motor peripheral neuropathy

DOID:2477
Vacuolated lymphocytes

HP:0001922
Canavan disease

DOID:3613

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