PubMed:10071100
Annnotations
PMID_GLOBAL
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 170-197 | DiseaseOrPhenotypicFeature | denotes | Charcot-Marie-Tooth disease | 0015626 |
| T2 | 199-204 | DiseaseOrPhenotypicFeature | denotes | CMT1X | 0010549 |
| T3 | 232-250 | DiseaseOrPhenotypicFeature | denotes | sensory neuropathy | 0002321 |
| T4 | 302-307 | DiseaseOrPhenotypicFeature | denotes | CMT1X | 0010549 |
| T5 | 460-463 | DiseaseOrPhenotypicFeature | denotes | PNS | 0018215 |
| T6 | 507-512 | DiseaseOrPhenotypicFeature | denotes | CMT1X | 0010549 |
| T7 | 613-616 | DiseaseOrPhenotypicFeature | denotes | PNS | 0018215 |
| T8 | 672-677 | DiseaseOrPhenotypicFeature | denotes | CMT1X | 0010549 |
| T9 | 851-854 | DiseaseOrPhenotypicFeature | denotes | PNS | 0018215 |
| T10 | 1229-1232 | DiseaseOrPhenotypicFeature | denotes | CMT | 0015626 |
| T11 | 1350-1354 | DiseaseOrPhenotypicFeature | denotes | CMTX | 0010549|0018994 |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10071100-0#96#105#geners104894822 | 96-105 | geners104894822 | denotes | Asn205Ser |
| 10071100-0#61#80#diseaseC0007959 | 61-80 | diseaseC0007959 | denotes | Charcot-Marie-Tooth |
| 96#105#geners10489482261#80#diseaseC0007959 | 10071100-0#96#105#geners104894822 | 10071100-0#61#80#diseaseC0007959 | associated_with | Asn205Ser,Charcot-Marie-Tooth |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10071100-0#122#133#gene2705 | 122-133 | gene2705 | denotes | connexin 32 |
| 10071100-0#61#80#diseaseC0007959 | 61-80 | diseaseC0007959 | denotes | Charcot-Marie-Tooth |
| 122#133#gene270561#80#diseaseC0007959 | 10071100-0#122#133#gene2705 | 10071100-0#61#80#diseaseC0007959 | associated_with | connexin 32,Charcot-Marie-Tooth |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 122-133 | gene:2705 | denotes | connexin 32 |
| T1 | 61-80 | disease:C0007959 | denotes | Charcot-Marie-Tooth |
| T2 | 762-766 | gene:2705 | denotes | Cx32 |
| T3 | 672-677 | disease:C0007959 | denotes | CMT1X |
| R1 | T0 | T1 | associated_with | connexin 32,Charcot-Marie-Tooth |
| R2 | T2 | T3 | associated_with | Cx32,CMT1X |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 232-250 | HP_0000763 | denotes | sensory neuropathy |