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:CEP290 | missense |
| gptkb:TLR3_gene | increased susceptibility to viral infection |
| gptkb:IDUA_gene | gptkb:Hurler_syndrome |
| gptkb:LAMB3 | skin blistering |
| gptkb:CD320_gene | gptkb:homocystinuria |
| gptkb:CD3G_gene | gptkb:immunodeficiency_17 |
| gptkb:WASF2 | neurological disorders |
| gptkb:LDL_receptor | elevated plasma LDL cholesterol |
| gptkb:p53 | colorectal cancer |
| gptkb:SARS-CoV-2_virus | gptkb:P681R |
| gptkb:MAP4K1_gene | autoimmune diseases |
| gptkb:SOD1_gene | missense |
| gptkb:SARS-CoV-2_virion | gptkb:D950N |
| gptkb:MAP3K11 | neurodegenerative diseases |
| gptkb:MPZ_protein | gptkb:Dejerine–Sottas_disease |
| gptkb:lacI_gene | constitutive expression of lac operon |
| gptkb:COL4A5_gene | duplication |
| gptkb:AF-9 | leukemogenesis |
| gptkb:EDNRB | pigmentation disorders |
| gptkb:TTR_gene | Gly47Pro |