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:DGCR8_protein | congenital heart defects |
| gptkb:PINK1 | gptkb:early-onset_Parkinson's_disease |
| gptkb:LCA8 | vision loss |
| gptkb:LGMD1 | various genes |
| gptkb:CD19_gene | gptkb:common_variable_immunodeficiency |
| gptkb:Ras_family | gptkb:Cardiofaciocutaneous_syndrome |
| gptkb:CD3_gamma_chain | gptkb:immunodeficiency |
| gptkb:FBXW7 | colorectal cancer |
| gptkb:THOC1 | gptkb:cancer |
| gptkb:ZEB2_gene | frameshift |
| gptkb:UBE3A | deletion |
| gptkb:RB1_(Retinoblastoma_protein) | gptkb:retinoblastoma |
| gptkb:Long-Term_Evolution_Experiment | citT gene duplication |
| gptkb:Bard1 | increased cancer risk |
| gptkb:SSTR2 | acromegaly |
| gptkb:GTPase_HRas | gptkb:Costello_syndrome |
| gptkb:ABCC1_gene | drug resistance in cancer |
| gptkb:PLIN1 | nonsense |
| gptkb:B0AT1_transporter | gptkb:Hartnup_disorder |
| gptkb:dystroglycan | gptkb:Walker-Warburg_syndrome |