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PubMed:10215410 JSONTXT

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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10215410-0#26#35#geners80053154 26-35 geners80053154 denotes Ile538Val
10215410-0#82#99#diseaseC0410529 82-99 diseaseC0410529 denotes hypochondroplasia
10215410-12#41#50#geners80053154 1768-1777 geners80053154 denotes Ile538Val
10215410-12#160#173#diseaseC0013336 1887-1900 diseaseC0013336 denotes short stature
26#35#geners8005315482#99#diseaseC0410529 10215410-0#26#35#geners80053154 10215410-0#82#99#diseaseC0410529 associated_with Ile538Val,hypochondroplasia
41#50#geners80053154160#173#diseaseC0013336 10215410-12#41#50#geners80053154 10215410-12#160#173#diseaseC0013336 associated_with Ile538Val,short stature

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10215410-0#43#78#gene2261 43-78 gene2261 denotes fibroblast growth factor receptor 3
10215410-0#82#99#diseaseC0410529 82-99 diseaseC0410529 denotes hypochondroplasia
43#78#gene226182#99#diseaseC0410529 10215410-0#43#78#gene2261 10215410-0#82#99#diseaseC0410529 associated_with fibroblast growth factor receptor 3,hypochondroplasia

DisGeNET

Id Subject Object Predicate Lexical cue
T0 43-78 gene:2261 denotes fibroblast growth factor receptor 3
T1 82-99 disease:C0410529 denotes hypochondroplasia
R1 T0 T1 associated_with fibroblast growth factor receptor 3,hypochondroplasia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 178-197 HP_0002652 denotes skeletal dysplasias
T2 216-234 HP_0000006 denotes autosomal dominant
T3 216-246 HP_0000006 denotes autosomal dominant inheritance
T4 251-281 HP_0003498 denotes disproportionate short stature
T5 268-281 HP_0004322 denotes short stature
T6 310-324 HP_0001510 denotes growth failure
T7 833-863 HP_0003498 denotes disproportionate short stature
T8 850-863 HP_0004322 denotes short stature
T9 893-913 HP_0003026 denotes shortened long bones
T10 1887-1900 HP_0004322 denotes short stature
T11 1935-1948 HP_0004322 denotes short stature