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:human_NOTCH1_gene | splice site |
| gptkb:antithrombin | gptkb:hereditary_antithrombin_deficiency |
| gptkb:Chek2 | somatic mutation |
| gptkb:chronic_myelomonocytic_leukemia | gptkb:NRAS |
| gptkb:COL2A1_gene | splice-site |
| gptkb:desmoglein-2 | arrhythmogenic right ventricular cardiomyopathy |
| gptkb:mitofusin_2 | sensory loss |
| gptkb:serine_protease_inhibitors | gptkb:hereditary_hemorrhagic_telangiectasia |
| gptkb:unc-22 | twitching movement |
| gptkb:Beast | Claws |
| gptkb:NIPBL_(in_humans) | gptkb:intellectual_disability |
| gptkb:Lung_cancer_(non-small_cell) | ROS1 rearrangement |
| gptkb:hemoglobin_beta_gene | nonsense mutation |
| gptkb:Protein_Tyrosine_Phosphatase_gene_family | developmental disorders |
| gptkb:mouse_Ptpn1 | improved insulin sensitivity |
| gptkb:DYRK1A | overexpression linked to Down syndrome phenotypes |
| gptkb:PTCH2 | nevoid basal cell carcinoma syndrome |
| gptkb:Spielmeyer-Vogt_disease | CLN3 gene |
| gptkb:AKT_(protein_kinase_B) | gptkb:diabetes |
| gptkb:Drosophila_melanogaster_Nipped-B | homeotic transformations |