mutationType
P68674
predicate
Indicates the specific kind or category of genetic alteration that has occurred in an entity.
All labels observed (6)
| Label | Occurrences |
|---|---|
| mutationType canonical | 11 |
| mutationTypeAssociated | 5 |
| mutationTypeCausingDisease | 2 |
| causativeMutationType | 1 |
| hasMutationType | 1 |
| mutationTypeInDisease | 1 |
Description generation (PDg)
The one-sentence description above was generated by prompting gpt-5.1 with the predicate name and this instruction.
Instruction
Given a predicate that represents a relationship or action between entities, generate a one-sentence description explaining its meaning. # Instructions Focus on describing the relationship, not the entities themselves. # Response Format Begin the description with \' Indicates...\'
Input
Predicate: mutationType
Generated description
Indicates the specific kind or category of genetic alteration that has occurred in an entity.
Sample triples (21)
| Subject | Object |
|---|---|
| C9orf72 | hexanucleotide repeat expansion ⓘ |
| TARDBP | missense mutation ⓘ |
| TARDBP | frameshift mutation ⓘ |
| TARDBP | nonsense mutation ⓘ |
| Jared Nomak | vampire-virus hybrid mutation ⓘ |
| Fié Gris | color mutation ⓘ |
| 5q13 (SMN1) | homozygous deletion via predicate surface "mutationTypeCausingDisease" ⓘ |
| 5q13 (SMN1) | loss-of-function mutation via predicate surface "mutationTypeCausingDisease" ⓘ |
| HGNC:28350 | repeat expansion ⓘ |
|
chromosome 9 open reading frame 72
surface form:
C9orf72
|
hexanucleotide repeat expansion via predicate surface "mutationTypeInDisease" ⓘ |
| Splinter | mutant ⓘ |
| Angel Salvadore | secondary mutation ⓘ |
|
HTT gene
surface form:
HTT
|
CAG trinucleotide repeat expansion via predicate surface "hasMutationType" ⓘ |
| Bitores Mendez | Las Plagas mutation NERFINISHED ⓘ |
| Nav1.1 sodium channel | loss-of-function mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Nav1.1 sodium channel | missense mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Nav1.1 sodium channel | nonsense mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Nav1.1 sodium channel | frameshift mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Nav1.1 sodium channel | splice-site mutations via predicate surface "mutationTypeAssociated" ⓘ |
| Lambent | Imulsion-induced mutation ⓘ |
|
collie eye anomaly
surface form:
Collie eye anomaly
|
deletion via predicate surface "causativeMutationType" ⓘ |