PubMed:22534770
Annnotations
Allie
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| SS1_22534770_2_0 | 321-350 | expanded | denotes | familial hypercholesterolemia |
| SS2_22534770_2_0 | 352-354 | abbr | denotes | FH |
| SS1_22534770_3_0 | 442-473 | expanded | denotes | single nucleotide polymorphisms |
| SS2_22534770_3_0 | 475-478 | abbr | denotes | SNP |
| SS1_22534770_3_1 | 523-562 | expanded | denotes | autosomal dominant hypercholesterolemia |
| SS2_22534770_3_1 | 564-567 | abbr | denotes | ADH |
| SS1_22534770_3_2 | 580-596 | expanded | denotes | apolipoprotein B |
| SS2_22534770_3_2 | 574-578 | abbr | denotes | APOB |
| SS1_22534770_3_3 | 605-637 | expanded | denotes | low density lipoprotein receptor |
| SS2_22534770_3_3 | 599-603 | abbr | denotes | LDLR |
| AE1_22534770_2_0 | SS1_22534770_2_0 | SS2_22534770_2_0 | abbreviatedTo | familial hypercholesterolemia,FH |
| AE1_22534770_3_0 | SS1_22534770_3_0 | SS2_22534770_3_0 | abbreviatedTo | single nucleotide polymorphisms,SNP |
| AE1_22534770_3_1 | SS1_22534770_3_1 | SS2_22534770_3_1 | abbreviatedTo | autosomal dominant hypercholesterolemia,ADH |
| AE1_22534770_3_2 | SS1_22534770_3_2 | SS2_22534770_3_2 | abbreviatedTo | apolipoprotein B,APOB |
| AE1_22534770_3_3 | SS1_22534770_3_3 | SS2_22534770_3_3 | abbreviatedTo | low density lipoprotein receptor,LDLR |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 111-131 | HP_0003124 | denotes | Hypercholesterolemia |
| T2 | 330-350 | HP_0003124 | denotes | hypercholesterolemia |
| T3 | 523-541 | HP_0000006 | denotes | autosomal dominant |
| T4 | 542-562 | HP_0003124 | denotes | hypercholesterolemia |
| T5 | 954-974 | HP_0003124 | denotes | hypercholesterolemia |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 574-578 | gene:338 | denotes | APOB |
| T1 | 523-562 | disease:C0745103 | denotes | autosomal dominant hypercholesterolemia |
| T2 | 599-603 | gene:3949 | denotes | LDLR |
| T3 | 523-562 | disease:C0745103 | denotes | autosomal dominant hypercholesterolemia |
| T4 | 605-637 | gene:3949 | denotes | low density lipoprotein receptor |
| T5 | 523-562 | disease:C0745103 | denotes | autosomal dominant hypercholesterolemia |
| T6 | 643-648 | gene:255738 | denotes | PCSK9 |
| T7 | 523-562 | disease:C0745103 | denotes | autosomal dominant hypercholesterolemia |
| T8 | 650-695 | gene:255738 | denotes | proprotein convertase subtilisin/kexin type-9 |
| T9 | 523-562 | disease:C0745103 | denotes | autosomal dominant hypercholesterolemia |
| R1 | T0 | T1 | associated_with | APOB,autosomal dominant hypercholesterolemia |
| R2 | T2 | T3 | associated_with | LDLR,autosomal dominant hypercholesterolemia |
| R3 | T4 | T5 | associated_with | low density lipoprotein receptor,autosomal dominant hypercholesterolemia |
| R4 | T6 | T7 | associated_with | PCSK9,autosomal dominant hypercholesterolemia |
| R5 | T8 | T9 | associated_with | proprotein convertase subtilisin/kexin type-9,autosomal dominant hypercholesterolemia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 22534770-3#174#178#gene338 | 574-578 | gene338 | denotes | APOB |
| 22534770-3#199#203#gene3949 | 599-603 | gene3949 | denotes | LDLR |
| 22534770-3#205#237#gene3949 | 605-637 | gene3949 | denotes | low density lipoprotein receptor |
| 22534770-3#243#248#gene255738 | 643-648 | gene255738 | denotes | PCSK9 |
| 22534770-3#250#295#gene255738 | 650-695 | gene255738 | denotes | proprotein convertase subtilisin/kexin type-9 |
| 22534770-3#123#162#diseaseC0745103 | 523-562 | diseaseC0745103 | denotes | autosomal dominant hypercholesterolemia |
| 174#178#gene338123#162#diseaseC0745103 | 22534770-3#174#178#gene338 | 22534770-3#123#162#diseaseC0745103 | associated_with | APOB,autosomal dominant hypercholesterolemia |
| 199#203#gene3949123#162#diseaseC0745103 | 22534770-3#199#203#gene3949 | 22534770-3#123#162#diseaseC0745103 | associated_with | LDLR,autosomal dominant hypercholesterolemia |
| 205#237#gene3949123#162#diseaseC0745103 | 22534770-3#205#237#gene3949 | 22534770-3#123#162#diseaseC0745103 | associated_with | low density lipoprotein receptor,autosomal dominant hypercholesterolemia |
| 243#248#gene255738123#162#diseaseC0745103 | 22534770-3#243#248#gene255738 | 22534770-3#123#162#diseaseC0745103 | associated_with | PCSK9,autosomal dominant hypercholesterolemia |
| 250#295#gene255738123#162#diseaseC0745103 | 22534770-3#250#295#gene255738 | 22534770-3#123#162#diseaseC0745103 | associated_with | proprotein convertase subtilisin/kexin type-9,autosomal dominant hypercholesterolemia |