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:Prkag2 | cardiac hypertrophy |
gptkb:FOXP2 | nonsense |
gptkb:TP53_gene | various cancers |
gptkb:IL2RG_gene | nonsense |
gptkb:LRRK2_gene | gptkb:G2019S |
gptkb:Cyclin_D2 | megalencephaly |
gptkb:SLC6A2 | can cause norepinephrine transporter deficiency |
gptkb:ANKRD1_gene | gptkb:dilated_cardiomyopathy |
gptkb:RTK-RAS_pathway | gptkb:NRAS_gene |
gptkb:AY.2 | gptkb:T478K |
gptkb:FGFR2_protein | gptkb:Apert_syndrome |
gptkb:PSEN2 | gptkb:early-onset_familial_Alzheimer's_disease |
gptkb:Dravet_syndrome | gptkb:SCN1A_gene |
gptkb:FMRP_protein | intellectual disability |
gptkb:JAK2_V617F_mutation | missense mutation |
gptkb:GALT | R333W |
gptkb:HTT | motor dysfunction |
gptkb:Tangier_disease | gptkb:ABCA1_gene |
gptkb:period_gene | alters circadian period length |
gptkb:Mtm1 | respiratory failure |