PubMed:11278977 / 0-181
Annnotations
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T1 | 0-181 | Sentence | denotes | COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II. |
T1 | 0-181 | Sentence | denotes | COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II. |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
11278977-0#0#6#gene1289 | 0-6 | gene1289 | denotes | COL5A1 |
11278977-0#155#177#diseaseC0013720 | 155-177 | diseaseC0013720 | denotes | Ehlers-Danlos syndrome |
0#6#gene1289155#177#diseaseC0013720 | 11278977-0#0#6#gene1289 | 11278977-0#155#177#diseaseC0013720 | associated_with | COL5A1,Ehlers-Danlos syndrome |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 0-6 | gene:1289 | denotes | COL5A1 |
T1 | 155-177 | disease:C0013720 | denotes | Ehlers-Danlos syndrome |
T2 | 95-102 | gene:146 | denotes | alpha 1 |
T3 | 155-177 | disease:C0013720 | denotes | Ehlers-Danlos syndrome |
R1 | T0 | T1 | associated_with | COL5A1,Ehlers-Danlos syndrome |
R2 | T2 | T3 | associated_with | alpha 1,Ehlers-Danlos syndrome |
mondo_disease
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 155-177 | Disease | denotes | Ehlers-Danlos syndrome | http://purl.obolibrary.org/obo/MONDO_0020066 |