PubMed:14707127 / 0-256
Annnotations
GlyCosmos6-Glycan-Motif-Image
| Id | Subject | Object | Predicate | Lexical cue | image |
|---|---|---|---|---|---|
| T1 | 17-36 | Glycan_Motif | denotes | N-acetylglucosamine | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-141 | Sentence | denotes | Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. |
GlyCosmos6-Glycan-Motif-Structure
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 17-36 | https://glytoucan.org/Structures/Glycans/G64581RP | denotes | N-acetylglucosamine |
Glycosmos6-MAT
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 205-211 | http://purl.obolibrary.org/obo/MAT_0000025 | denotes | muscle |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 149-157 | HP_0003198 | denotes | myopathy |
| T2 | 163-178 | HP_0003805 | denotes | rimmed vacuoles |
| T3 | 185-204 | HP_0000007 | denotes | autosomal recessive |
NGLY1-deficiency
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-NGLY1-deficiency-B_T1 | 17-36 | chem:24139 | denotes | N-acetylglucosamine |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 14707127-0#13#75#gene10020 | 13-75 | gene10020 | denotes | UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase |
| 14707127-0#104#140#diseaseC1853926 | 104-140 | diseaseC1853926 | denotes | distal myopathy with rimmed vacuoles |
| 13#75#gene10020104#140#diseaseC1853926 | 14707127-0#13#75#gene10020 | 14707127-0#104#140#diseaseC1853926 | associated_with | UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase,distal myopathy with rimmed vacuoles |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 13-75 | gene:10020 | denotes | UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase |
| T1 | 104-140 | disease:C1853926 | denotes | distal myopathy with rimmed vacuoles |
| R1 | T0 | T1 | associated_with | UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase,distal myopathy with rimmed vacuoles |
Anatomy-MAT
| Id | Subject | Object | Predicate | Lexical cue | mat_id |
|---|---|---|---|---|---|
| T1 | 205-211 | Body_part | denotes | muscle | http://purl.obolibrary.org/obo/MAT_0000025 |
HP-phenotype
| Id | Subject | Object | Predicate | Lexical cue | hp_id |
|---|---|---|---|---|---|
| T1 | 111-119 | Phenotype | denotes | myopathy | HP:0003198 |
| T2 | 125-140 | Phenotype | denotes | rimmed vacuoles | HP:0003805 |
| T3 | 149-157 | Phenotype | denotes | myopathy | HP:0003198 |
| T4 | 163-178 | Phenotype | denotes | rimmed vacuoles | HP:0003805 |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 104-140 | Disease | denotes | distal myopathy with rimmed vacuoles | http://purl.obolibrary.org/obo/MONDO_0007827|http://purl.obolibrary.org/obo/MONDO_0011603 |
| T3 | 142-178 | Disease | denotes | Distal myopathy with rimmed vacuoles | http://purl.obolibrary.org/obo/MONDO_0007827|http://purl.obolibrary.org/obo/MONDO_0011603 |
GlyCosmos15-HP
| Id | Subject | Object | Predicate | Lexical cue | hp_id |
|---|---|---|---|---|---|
| T1 | 111-119 | Phenotype | denotes | myopathy | HP:0003198 |
| T2 | 125-140 | Phenotype | denotes | rimmed vacuoles | HP:0003805 |
| T3 | 149-157 | Phenotype | denotes | myopathy | HP:0003198 |
| T4 | 163-178 | Phenotype | denotes | rimmed vacuoles | HP:0003805 |
GlyCosmos15-MONDO
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 104-140 | Disease | denotes | distal myopathy with rimmed vacuoles | http://purl.obolibrary.org/obo/MONDO_0007827|http://purl.obolibrary.org/obo/MONDO_0011603 |
| T3 | 142-178 | Disease | denotes | Distal myopathy with rimmed vacuoles | http://purl.obolibrary.org/obo/MONDO_0007827|http://purl.obolibrary.org/obo/MONDO_0011603 |
GlyCosmos15-UBERON
| Id | Subject | Object | Predicate | Lexical cue | uberon_id |
|---|---|---|---|---|---|
| T1 | 205-211 | Body_part | denotes | muscle | http://purl.obolibrary.org/obo/UBERON_0001630|http://purl.obolibrary.org/obo/UBERON_0005090 |
GlyCosmos15-MAT
| Id | Subject | Object | Predicate | Lexical cue | mat_id |
|---|---|---|---|---|---|
| T1 | 205-211 | Body_part | denotes | muscle | http://purl.obolibrary.org/obo/MAT_0000025 |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-141 | Sentence | denotes | Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. |
GlyCosmos15-Sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-141 | Sentence | denotes | Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. |
Lectin-Jamboree-Sentence
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-141 | Sentence | denotes | Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. |
Anatomy-UBERON
| Id | Subject | Object | Predicate | Lexical cue | uberon_id |
|---|---|---|---|---|---|
| T1 | 205-211 | Body_part | denotes | muscle | http://purl.obolibrary.org/obo/UBERON_0001630|http://purl.obolibrary.org/obo/UBERON_0005090 |