PubMed:21497194 / 912-1109
Annnotations
PubTator4TogoVar
Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
---|---|---|---|---|---|
21497194_0 | 117-123 | ProteinMutation | denotes | p.R68W | rs770638519 |
21497194_1 | 128-135 | ProteinMutation | denotes | p.R109W | rs770638519 |
21497194_2 | 180-187 | ProteinMutation | denotes | p.R148C | rs770638519 |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T9 | 0-197 | Sentence | denotes | A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. |
T9 | 0-197 | Sentence | denotes | A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
21497194-8#180#187#geners192732174 | 180-187 | geners192732174 | denotes | p.R148C |
21497194-8#128#135#geners35289681 | 128-135 | geners35289681 | denotes | p.R109W |
21497194-8#117#123#geners72555370 | 117-123 | geners72555370 | denotes | p.R68W |
21497194-8#15#43#diseaseC0268271 | 15-43 | diseaseC0268271 | denotes | infantile GM1 gangliosidosis |
180#187#geners19273217415#43#diseaseC0268271 | 21497194-8#180#187#geners192732174 | 21497194-8#15#43#diseaseC0268271 | associated_with | p.R148C,infantile GM1 gangliosidosis |
128#135#geners3528968115#43#diseaseC0268271 | 21497194-8#128#135#geners35289681 | 21497194-8#15#43#diseaseC0268271 | associated_with | p.R109W,infantile GM1 gangliosidosis |
117#123#geners7255537015#43#diseaseC0268271 | 21497194-8#117#123#geners72555370 | 21497194-8#15#43#diseaseC0268271 | associated_with | p.R68W,infantile GM1 gangliosidosis |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
21497194-8#62#66#gene2720 | 62-66 | gene2720 | denotes | GLB1 |
21497194-8#15#43#diseaseC0268271 | 15-43 | diseaseC0268271 | denotes | infantile GM1 gangliosidosis |
62#66#gene272015#43#diseaseC0268271 | 21497194-8#62#66#gene2720 | 21497194-8#15#43#diseaseC0268271 | associated_with | GLB1,infantile GM1 gangliosidosis |
mondo_disease
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T9 | 15-43 | Disease | denotes | infantile GM1 gangliosidosis | http://purl.obolibrary.org/obo/MONDO_0009260 |
Glycan-GlyCosmos
Id | Subject | Object | Predicate | Lexical cue | image |
---|---|---|---|---|---|
T6 | 25-28 | Glycan | denotes | GM1 | https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR |
GlyCosmos-GlycoEpitope
Id | Subject | Object | Predicate | Lexical cue | glycoepitope_id |
---|---|---|---|---|---|
T6 | 25-28 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | GM1 | http://www.glycoepitope.jp/epitopes/EP0050 |
GlyCosmos15-MONDO
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T9 | 15-43 | Disease | denotes | infantile GM1 gangliosidosis | http://purl.obolibrary.org/obo/MONDO_0009260 |
GlyCosmos15-NCBITAXON
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T3 | 2-9 | OrganismTaxon | denotes | patient | 9606 |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T9 | 0-197 | Sentence | denotes | A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. |
T9 | 0-197 | Sentence | denotes | A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. |
GlyCosmos15-Glycan
Id | Subject | Object | Predicate | Lexical cue | image |
---|---|---|---|---|---|
T6 | 25-28 | Glycan | denotes | GM1 | https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR |
GlyCosmos15-GlycoEpitope
Id | Subject | Object | Predicate | Lexical cue | glycoepitope_id |
---|---|---|---|---|---|
T6 | 25-28 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | GM1 | http://www.glycoepitope.jp/epitopes/EP0050 |
NCBITAXON
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T3 | 2-9 | OrganismTaxon | denotes | patient | 9606 |