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PubMed:10200283 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 18-32 DiseaseOrPhenotypicFeature denotes achondroplasia 0007037
T2 92-106 DiseaseOrPhenotypicFeature denotes Achondroplasia 0007037
T3 163-179 DiseaseOrPhenotypicFeature denotes genetic disorder 0003847
T4 337-351 DiseaseOrPhenotypicFeature denotes achondroplasia 0007037
T5 1078-1092 DiseaseOrPhenotypicFeature denotes achondroplasia 0007037

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10200283-1#116#121#geners28931614 208-213 geners28931614 denotes G380R
10200283-1#40#48#diseaseC0013336 132-140 diseaseC0013336 denotes dwarfism
116#121#geners2893161440#48#diseaseC0013336 10200283-1#116#121#geners28931614 10200283-1#40#48#diseaseC0013336 associated_with G380R,dwarfism

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10200283-1#154#189#gene2261 246-281 gene2261 denotes fibroblast growth factor receptor 3
10200283-1#191#196#gene2261 283-288 gene2261 denotes FGFR3
10200283-1#40#48#diseaseC0013336 132-140 diseaseC0013336 denotes dwarfism
10200283-3#132#137#gene2261 521-526 gene2261 denotes FGFR3
10200283-3#165#180#diseaseC0020492 554-569 diseaseC0020492 denotes bone overgrowth
10200283-7#73#78#gene2261 1116-1121 gene2261 denotes FGFR3
10200283-7#35#49#diseaseC0001080 1078-1092 diseaseC0001080 denotes achondroplasia
154#189#gene226140#48#diseaseC0013336 10200283-1#154#189#gene2261 10200283-1#40#48#diseaseC0013336 associated_with fibroblast growth factor receptor 3,dwarfism
191#196#gene226140#48#diseaseC0013336 10200283-1#191#196#gene2261 10200283-1#40#48#diseaseC0013336 associated_with FGFR3,dwarfism
132#137#gene2261165#180#diseaseC0020492 10200283-3#132#137#gene2261 10200283-3#165#180#diseaseC0020492 associated_with FGFR3,bone overgrowth
73#78#gene226135#49#diseaseC0001080 10200283-7#73#78#gene2261 10200283-7#35#49#diseaseC0001080 associated_with FGFR3,achondroplasia

DisGeNET

Id Subject Object Predicate Lexical cue
T0 55-90 gene:2261 denotes fibroblast growth factor receptor 3
T1 18-32 disease:C0001080 denotes achondroplasia
T2 283-288 gene:2261 denotes FGFR3
T3 132-140 disease:C0013336 denotes dwarfism
T4 246-281 gene:2261 denotes fibroblast growth factor receptor 3
T5 163-179 disease:C0019247 denotes genetic disorder
T6 283-288 gene:2261 denotes FGFR3
T7 163-179 disease:C0019247 denotes genetic disorder
T8 246-281 gene:2261 denotes fibroblast growth factor receptor 3
T9 132-140 disease:C0013336 denotes dwarfism
R1 T0 T1 associated_with fibroblast growth factor receptor 3,achondroplasia
R2 T2 T3 associated_with FGFR3,dwarfism
R3 T4 T5 associated_with fibroblast growth factor receptor 3,genetic disorder
R4 T6 T7 associated_with FGFR3,genetic disorder
R5 T8 T9 associated_with fibroblast growth factor receptor 3,dwarfism

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 132-140 HP_0003510 denotes dwarfism
T2 559-569 HP_0001548 denotes overgrowth
T3 952-960 HP_0002808 denotes kyphosis