mutationAssociatedWith
12,199
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:cell_division_protein_kinase_4 | linked to familial melanoma |
gptkb:TP53 | gptkb:Li-Fraumeni_syndrome |
gptkb:RNF12 | intellectual disability |
gptkb:Isocitrate_dehydrogenase | glioma |
gptkb:Q9Y484 | metabolic disorder |
gptkb:FOXP2_gene | nonsense mutation |
gptkb:KRas_protein | pancreatic cancer |
gptkb:BOR_syndrome | gptkb:SIX5_gene |
gptkb:pRb | gptkb:retinoblastoma |
gptkb:Methylthioadenosine_phosphorylase | MTAP deficiency |
gptkb:manganese_superoxide_dismutase | mitochondrial dysfunction |
gptkb:hPMS2 | increased cancer risk |
gptkb:COPI_complex | disrupts protein trafficking |
gptkb:rpoB_gene_(in_bacteria) | rifampicin resistance |
gptkb:Anaplastic_lymphoma_kinase | point mutation |
gptkb:Apolipoprotein_E | decreased Alzheimer's risk (ε2) |
gptkb:PSEN1 | frameshift |
gptkb:ATM_kinase | immunodeficiency |
gptkb:BRCA1 | genomic instability |
gptkb:Liddle_syndrome | gptkb:SCNN1B_gene |