mutationAssociatedWith
P68687
predicate
Indicates that a specific genetic mutation is linked or related to another entity, such as a disease, trait, or molecular effect.
All labels observed (8)
| Label | Occurrences |
|---|---|
| mutationAssociatedWith canonical | 5 |
| polymorphismAssociatedWith | 5 |
| mutationCause | 4 |
| associatedWithGeneMutation | 3 |
| causedByMutationIn | 3 |
| mutation | 3 |
| mutationTypeAssociatedWithDisease | 3 |
| mutationCauses | 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: mutationAssociatedWith
Generated description
Indicates that a specific genetic mutation is linked or related to another entity, such as a disease, trait, or molecular effect.
Sample triples (27)
| Subject | Object |
|---|---|
| TARDBP | familial ALS ⓘ |
| TARDBP | sporadic ALS ⓘ |
|
INS gene
linked to:
INS gene in humans
|
type 1 diabetes risk via predicate surface "polymorphismAssociatedWith" ⓘ |
|
INS gene
linked to:
INS gene in humans
|
birth weight variation via predicate surface "polymorphismAssociatedWith" ⓘ |
| CYP1A2 | variation in caffeine metabolism via predicate surface "polymorphismAssociatedWith" ⓘ |
| CYP1A2 | variation in drug response via predicate surface "polymorphismAssociatedWith" ⓘ |
| CYP1A2 | risk of adverse drug reactions via predicate surface "polymorphismAssociatedWith" ⓘ |
|
SMN1
linked to:
SMN1 gene
|
homozygous deletion via predicate surface "mutationTypeAssociatedWithDisease" ⓘ |
|
SMN1
linked to:
SMN1 gene
|
gene conversion to SMN2 via predicate surface "mutationTypeAssociatedWithDisease" ⓘ |
|
SMN1
linked to:
SMN1 gene
|
point mutation via predicate surface "mutationTypeAssociatedWithDisease" ⓘ |
|
Reapers (Blade universe)
linked to:
Reapers
|
genetic engineering via predicate surface "mutationCause" ⓘ |
|
Reapers (Blade universe)
linked to:
Reapers
|
vampire experimentation via predicate surface "mutationCause" ⓘ |
| Clone Force 99 | enhanced strength (Wrecker) via predicate surface "mutation" ⓘ |
| Clone Force 99 | enhanced intellect (Tech) via predicate surface "mutation" ⓘ |
| Clone Force 99 | enhanced marksmanship (Crosshair) via predicate surface "mutation" ⓘ |
|
The Family (The Omega Man)
linked to:
The Family
|
biological warfare plague via predicate surface "mutationCause" ⓘ |
|
HTT
linked to:
HTT gene
|
Huntington's disease
via predicate surface "mutationCauses"
ⓘ
linked to:
Huntington's chorea
|
| Purple Tentacle | toxic sludge via predicate surface "mutationCause" ⓘ |
| chronic lymphocytic leukemia | TP53 mutation via predicate surface "associatedWithGeneMutation" ⓘ |
| chronic lymphocytic leukemia | NOTCH1 mutation via predicate surface "associatedWithGeneMutation" ⓘ |
| chronic lymphocytic leukemia | SF3B1 mutation via predicate surface "associatedWithGeneMutation" ⓘ |
| cytochrome P450 reductase | POR deficiency ⓘ |
| cytochrome P450 reductase | disorders of steroidogenesis ⓘ |
| cytochrome P450 reductase | Antley–Bixler syndrome (POR-related) ⓘ |
| tuberous sclerosis complex | TSC1 gene via predicate surface "causedByMutationIn" ⓘ |
| tuberous sclerosis complex | TSC2 gene via predicate surface "causedByMutationIn" ⓘ |
| Krabbe disease | GALC gene via predicate surface "causedByMutationIn" ⓘ |