PubMed:10071056
Annnotations
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
10071056-0#4#13#geners121913595 | 4-13 | geners121913595 | denotes | Thr124Met |
10071056-0#113#132#diseaseC0007959 | 113-132 | diseaseC0007959 | denotes | Charcot-Marie-Tooth |
4#13#geners121913595113#132#diseaseC0007959 | 10071056-0#4#13#geners121913595 | 10071056-0#113#132#diseaseC0007959 | associated_with | Thr124Met,Charcot-Marie-Tooth |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
10071056-0#41#60#gene4359 | 41-60 | gene4359 | denotes | myelin protein zero |
10071056-0#62#65#gene4359 | 62-65 | gene4359 | denotes | MPZ |
10071056-0#113#132#diseaseC0007959 | 113-132 | diseaseC0007959 | denotes | Charcot-Marie-Tooth |
41#60#gene4359113#132#diseaseC0007959 | 10071056-0#41#60#gene4359 | 10071056-0#113#132#diseaseC0007959 | associated_with | myelin protein zero,Charcot-Marie-Tooth |
62#65#gene4359113#132#diseaseC0007959 | 10071056-0#62#65#gene4359 | 10071056-0#113#132#diseaseC0007959 | associated_with | MPZ,Charcot-Marie-Tooth |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 62-65 | gene:4359 | denotes | MPZ |
T1 | 113-132 | disease:C0007959 | denotes | Charcot-Marie-Tooth |
T2 | 41-60 | gene:4359 | denotes | myelin protein zero |
T3 | 113-132 | disease:C0007959 | denotes | Charcot-Marie-Tooth |
T4 | 194-213 | gene:4359 | denotes | myelin protein zero |
T5 | 266-269 | disease:C0007959 | denotes | CMT |
T6 | 194-213 | gene:4359 | denotes | myelin protein zero |
T7 | 245-264 | disease:C0007959 | denotes | Charcot-Marie-Tooth |
R1 | T0 | T1 | associated_with | MPZ,Charcot-Marie-Tooth |
R2 | T2 | T3 | associated_with | myelin protein zero,Charcot-Marie-Tooth |
R3 | T4 | T5 | associated_with | myelin protein zero,CMT |
R4 | T6 | T7 | associated_with | myelin protein zero,Charcot-Marie-Tooth |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 618-626 | HP_0000365 | denotes | deafness |
T2 | 631-654 | HP_0000615 | denotes | pupillary abnormalities |
T3 | 860-879 | HP_0003450 | denotes | axonal regeneration |
T4 | 1305-1328 | HP_0000615 | denotes | pupillary abnormalities |
T5 | 1332-1340 | HP_0000365 | denotes | deafness |