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:PDGFRA_gene | gain of function |
| gptkb:PRKMK1 | gptkb:cancer |
| gptkb:p55α | gptkb:cancer |
| gptkb:OMIM_109700 | gptkb:ΔF508 |
| gptkb:SNCA | gptkb:familial_Parkinson's_disease |
| gptkb:Histone-lysine_N-methyltransferase_SETD2 | clear cell renal cell carcinoma |
| gptkb:NTF3_gene | neurological disorders |
| gptkb:Col4a1_(mouse) | renal defects |
| gptkb:hereditary_diffuse_gastric_cancer | gptkb:CDH1_gene |
| gptkb:fibrochondrogenesis | gptkb:COL11A1_gene |
| gptkb:NPM1_gene | frameshift mutation |
| gptkb:connexins | neurological disorders |
| gptkb:MADH2 | mitochondrial diseases |
| gptkb:APOE_gene | protective effect against Alzheimer's disease (ε2 allele) |
| gptkb:sFRP3 | hip dysplasia |
| gptkb:JARID2 | neurodevelopmental disorders |
| gptkb:PLCγ | autoimmune diseases |
| gptkb:ATXN3 | gptkb:spinocerebellar_ataxia_type_3 |
| gptkb:GLDC_gene | glycine accumulation |
| gptkb:TSC2_gene | behavioral problems |