PubMed:23979604
Annnotations
Allie
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| SS1_23979604_1_0 | 162-178 | expanded | denotes | Timothy Syndrome |
| SS2_23979604_1_0 | 180-182 | abbr | denotes | TS |
| SS1_23979604_4_0 | 665-681 | expanded | denotes | bipolar disorder |
| SS2_23979604_4_0 | 683-685 | abbr | denotes | BD |
| SS1_23979604_5_0 | 841-871 | expanded | denotes | single-nucleotide polymorphism |
| SS2_23979604_5_0 | 873-876 | abbr | denotes | SNP |
| AE1_23979604_1_0 | SS1_23979604_1_0 | SS2_23979604_1_0 | abbreviatedTo | Timothy Syndrome,TS |
| AE1_23979604_4_0 | SS1_23979604_4_0 | SS2_23979604_4_0 | abbreviatedTo | bipolar disorder,BD |
| AE1_23979604_5_0 | SS1_23979604_5_0 | SS2_23979604_5_0 | abbreviatedTo | single-nucleotide polymorphism,SNP |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 503-522 | HP_0011675 | denotes | cardiac arrhythmias |
| T2 | 511-522 | HP_0011675 | denotes | arrhythmias |
| T3 | 550-570 | HP_0100543 | denotes | cognitive impairment |
| T4 | 572-578 | HP_0000717 | denotes | autism |
| T5 | 589-609 | HP_0001263 | denotes | developmental delays |
| T6 | 665-681 | HP_0007302 | denotes | bipolar disorder |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 23979604-0#19#26#gene775 | 19-26 | gene775 | denotes | CACNA1C |
| 23979604-0#144#151#gene775 | 144-151 | gene775 | denotes | CACNA1C |
| 23979604-0#45#61#diseaseC0005586 | 45-61 | diseaseC0005586 | denotes | bipolar disorder |
| 23979604-1#69#76#gene775 | 231-238 | gene775 | denotes | CACNA1C |
| 23979604-1#0#16#diseaseC1832916 | 162-178 | diseaseC1832916 | denotes | Timothy Syndrome |
| 23979604-1#18#20#diseaseC1832916 | 180-182 | diseaseC1832916 | denotes | TS |
| 19#26#gene77545#61#diseaseC0005586 | 23979604-0#19#26#gene775 | 23979604-0#45#61#diseaseC0005586 | associated_with | CACNA1C,bipolar disorder |
| 144#151#gene77545#61#diseaseC0005586 | 23979604-0#144#151#gene775 | 23979604-0#45#61#diseaseC0005586 | associated_with | CACNA1C,bipolar disorder |
| 69#76#gene7750#16#diseaseC1832916 | 23979604-1#69#76#gene775 | 23979604-1#0#16#diseaseC1832916 | associated_with | CACNA1C,Timothy Syndrome |
| 69#76#gene77518#20#diseaseC1832916 | 23979604-1#69#76#gene775 | 23979604-1#18#20#diseaseC1832916 | associated_with | CACNA1C,TS |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 23979604-5#115#124#geners1006737 | 912-921 | geners1006737 | denotes | rs1006737 |
| 23979604-5#109#111#diseaseC0005586 | 906-908 | diseaseC0005586 | denotes | BD |
| 115#124#geners1006737109#111#diseaseC0005586 | 23979604-5#115#124#geners1006737 | 23979604-5#109#111#diseaseC0005586 | associated_with | rs1006737,BD |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 511-522 | HP:0011675 | denotes | arrhythmias |
| AB2 | 550-570 | HP:0100543 | denotes | cognitive impairment |
| AB3 | 572-578 | HP:0000717 | denotes | autism |