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:SOX_family_proteins | gptkb:cancer |
| gptkb:COL4A6_gene | ocular abnormalities |
| gptkb:facioscapulohumeral_muscular_dystrophy | 4q35 region |
| gptkb:ApoB-100 | gptkb:familial_hypercholesterolemia |
| gptkb:FANCD2 | gptkb:Fanconi_anemia,_complementation_group_D2 |
| gptkb:SOX10 | intestinal aganglionosis |
| gptkb:Charcot-Marie-Tooth_disease_X-linked_type_1 | gptkb:GJB1_gene |
| gptkb:Bithorax_complex | homeotic transformation |
| gptkb:complex_I_of_electron_transport_chain | mitochondrial diseases |
| gptkb:TGF-beta_superfamily | gptkb:hereditary_hemorrhagic_telangiectasia |
| gptkb:CADASIL_protein | missense mutation |
| gptkb:CTNNB1 | missense |
| gptkb:KCNQ1_gene | deletion |
| gptkb:NDUFS4 | mitochondrial dysfunction |
| gptkb:FANCM_protein | increased cancer risk |
| gptkb:TSC1_gene | large rearrangement |
| gptkb:PPP1R3A | insulin resistance |
| gptkb:HOXA3 | congenital malformations |
| gptkb:HRH1_gene | rheumatoid arthritis |
| gptkb:NR4A2 | motor deficits |