PubMed:10214757
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10214757-1#74#82#geners121913602 | 171-179 | geners121913602 | denotes | Ile62Phe |
| 10214757-1#128#146#diseaseC0151313 | 225-243 | diseaseC0151313 | denotes | sensory neuropathy |
| 10214757-2#35#43#geners121913602 | 315-323 | geners121913602 | denotes | Ile62Phe |
| 10214757-2#163#173#diseaseC0442874 | 443-453 | diseaseC0442874 | denotes | neuropathy |
| 74#82#geners121913602128#146#diseaseC0151313 | 10214757-1#74#82#geners121913602 | 10214757-1#128#146#diseaseC0151313 | associated_with | Ile62Phe,sensory neuropathy |
| 35#43#geners121913602163#173#diseaseC0442874 | 10214757-2#35#43#geners121913602 | 10214757-2#163#173#diseaseC0442874 | associated_with | Ile62Phe,neuropathy |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10214757-0#8#11#gene4359 | 8-11 | gene4359 | denotes | MPZ |
| 10214757-0#40#60#diseaseC0598589 | 40-60 | diseaseC0598589 | denotes | inherited neuropathy |
| 10214757-1#49#52#gene4359 | 146-149 | gene4359 | denotes | MPZ |
| 10214757-1#128#146#diseaseC0151313 | 225-243 | diseaseC0151313 | denotes | sensory neuropathy |
| 10214757-2#60#63#gene4359 | 340-343 | gene4359 | denotes | MPZ |
| 10214757-2#163#173#diseaseC0442874 | 443-453 | diseaseC0442874 | denotes | neuropathy |
| 8#11#gene435940#60#diseaseC0598589 | 10214757-0#8#11#gene4359 | 10214757-0#40#60#diseaseC0598589 | associated_with | MPZ,inherited neuropathy |
| 49#52#gene4359128#146#diseaseC0151313 | 10214757-1#49#52#gene4359 | 10214757-1#128#146#diseaseC0151313 | associated_with | MPZ,sensory neuropathy |
| 60#63#gene4359163#173#diseaseC0442874 | 10214757-2#60#63#gene4359 | 10214757-2#163#173#diseaseC0442874 | associated_with | MPZ,neuropathy |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 225-243 | HP:0000763 | denotes | sensory neuropathy |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 8-11 | gene:4359 | denotes | MPZ |
| T1 | 40-60 | disease:C0598589 | denotes | inherited neuropathy |
| T2 | 146-149 | gene:4359 | denotes | MPZ |
| T3 | 225-243 | disease:C0151313 | denotes | sensory neuropathy |
| T4 | 340-343 | gene:4359 | denotes | MPZ |
| T5 | 443-453 | disease:C0442874 | denotes | neuropathy |
| R1 | T0 | T1 | associated_with | MPZ,inherited neuropathy |
| R2 | T2 | T3 | associated_with | MPZ,sensory neuropathy |
| R3 | T4 | T5 | associated_with | MPZ,neuropathy |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 196-214 | HP_0000006 | denotes | autosomal dominant |
| T2 | 225-243 | HP_0000763 | denotes | sensory neuropathy |