mutationAssociatedWith
12,122
triples
GPTKB property
Alternative names (49)
associatedGeneMutations • associatedWithGeneMutation • canBeCausedByMutationIn • caused by mutation in • causedByMutationIn • commonMutation • gene mutation • geneticMutation • geneticMutationsAssociated • hasCommonMutation • hasGeneMutation • hasMutant • hasMutation • isMutated • mutantPhenotype • mutation • mutation associated with • mutation causes • mutation consequence • mutation effect • mutation example • mutation in • mutation of • mutation phenotype • mutation type • mutationAffects • mutationAssociated • mutationCanCause • mutationCause • mutationCauses • mutationConsequence • mutationDatabase • mutationEffect • mutationFrequency • mutationHotspot • mutationIn • mutationLeadsTo • mutationLinkedTo • mutationObserved • mutationOf • mutationPhenotype • mutationRate • mutationSource • mutationType • mutations cause • mutationsCause • notable mutation • notableMutation • notableMutations • moreRandom triples
| Subject | Object |
|---|---|
| gptkb:Charcot-Marie-Tooth_disease_type_1 | gptkb:MPZ_gene |
| gptkb:Scottish_Fold | folded ear cartilage |
| gptkb:NKX2-5 | cardiac conduction defects |
| gptkb:lacY_gene | loss of lactose uptake |
| gptkb:IFNGR1 | gptkb:immunodeficiency |
| gptkb:CCR5-Δ32 | deletion |
| gptkb:Influenza_A | antigenic shift |
| gptkb:C1r | gptkb:systemic_lupus_erythematosus |
| gptkb:Mmp13 | impairs cartilage remodeling |
| gptkb:Pdgfa | defects in alveolar development |
| gptkb:Nonketotic_Hyperglycinemia | gptkb:GCSH_gene |
| gptkb:Parkin_(PARK2) | autosomal recessive juvenile Parkinsonism |
| gptkb:GTPase_KRas | colorectal cancer |
| gptkb:SMAD4_protein | pancreatic cancer |
| gptkb:FAS_gene | gptkb:systemic_lupus_erythematosus |
| gptkb:Drosophila_melanogaster | bar-eyed mutant |
| gptkb:NF1 | insertion |
| gptkb:RAS_protein_family | various developmental disorders |
| gptkb:Crebbp | Rubinstein-Taybi syndrome (in humans) |
| gptkb:collagen_type_III | gptkb:vascular_Ehlers-Danlos_syndrome |