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:Cystic_fibrosis_transmembrane_conductance_regulator | gptkb:G542X |
| gptkb:KITLG | gptkb:familial_progressive_hyperpigmentation |
| gptkb:TTR_gene | Gly57Arg |
| gptkb:SLC7A7 | aminoaciduria |
| gptkb:EXO1 | cancer susceptibility |
| gptkb:MAP2K6_gene | gptkb:cancer |
| gptkb:HTR1A_gene | psychiatric disorders |
| gptkb:SRF_gene | gptkb:muscular_dystrophy |
| gptkb:SMN1_gene | gptkb:point_mutation |
| gptkb:Janus_kinase_2 | gptkb:V617F |
| gptkb:tau_protein | MAPT gene causes frontotemporal dementia |
| gptkb:HSPA8_gene | neurodegenerative diseases |
| gptkb:PLG_gene | plasminogen deficiency |
| gptkb:IL6ST | inflammatory diseases |
| gptkb:U.1 | S:D614G |
| gptkb:HRAS_(human) | codon 12 |
| gptkb:Ntrk3 | gptkb:congenital_insensitivity_to_pain |
| gptkb:FBXW7 | colorectal cancer |
| gptkb:PIK3C2B_gene | gptkb:cancer |
| gptkb:CD135 | myelodysplastic syndromes |