PubMed:1577745 / 235-394
Annnotations
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T3 | 0-159 | Sentence | denotes | We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6 in one of her COL1A2 alleles. |
T3 | 0-159 | Sentence | denotes | We have shown that a child with Ehlers Danlos syndrome (EDS) type VII has a G to A transition at the first nucleotide of intron 6 in one of her COL1A2 alleles. |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
1577745-1#144#150#gene1278 | 144-150 | gene1278 | denotes | COL1A2 |
1577745-1#32#54#diseaseC0013720 | 32-54 | diseaseC0013720 | denotes | Ehlers Danlos syndrome |
1577745-1#56#59#diseaseC0013720 | 56-59 | diseaseC0013720 | denotes | EDS |
144#150#gene127832#54#diseaseC0013720 | 1577745-1#144#150#gene1278 | 1577745-1#32#54#diseaseC0013720 | associated_with | COL1A2,Ehlers Danlos syndrome |
144#150#gene127856#59#diseaseC0013720 | 1577745-1#144#150#gene1278 | 1577745-1#56#59#diseaseC0013720 | associated_with | COL1A2,EDS |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 144-150 | gene:1278 | denotes | COL1A2 |
T1 | 32-54 | disease:C0013720 | denotes | Ehlers Danlos syndrome |
T2 | 144-150 | gene:1278 | denotes | COL1A2 |
T3 | 56-59 | disease:C0013720 | denotes | EDS |
R1 | T0 | T1 | associated_with | COL1A2,Ehlers Danlos syndrome |
R2 | T2 | T3 | associated_with | COL1A2,EDS |
mondo_disease
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T2 | 32-54 | Disease | denotes | Ehlers Danlos syndrome | http://purl.obolibrary.org/obo/MONDO_0020066 |
T3 | 56-59 | Disease | denotes | EDS | http://purl.obolibrary.org/obo/MONDO_0020066 |