PubMed:11983712 / 719-1094
Annnotations
ggdb-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 81-86 | https://acgg.asia/db/ggdb/info/gg151 | denotes | ALG12 |
GGDB-2020
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 81-86 | https://acgg.asia/db/ggdb/info/gg151 | denotes | ALG12 |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T5 | 0-375 | Sentence | denotes | We have characterized cDNA corresponding to the human ortholog of the yeast gene ALG12 that encodes the dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl alpha6-mannosyltransferase that is thought to accomplish this reaction, and we show that the patient is homozygous for a point mutation (T571G) that causes an amino acid substitution (F142V) in a conserved region of the protein. |
glycogenes
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-GlycoGenes20190927-B_T1 | 81-86 | https://acgg.asia/db/ggdb/info/gg151 | denotes | ALG12 |
NGLY1-deficiency
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-NGLY1-deficiency-B_T1 | 125-131 | chem:24139 | denotes | GlcNAc |
NCBITAXON
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| T2 | 48-53 | OrganismTaxon | denotes | human | 9606 |
| T3 | 240-247 | OrganismTaxon | denotes | patient | 9606 |