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:Cytochrome_c_oxidase_polypeptide_I | mitochondrial diseases |
| gptkb:Neural_cadherin | schizophrenia |
| gptkb:PDHE1-A | gptkb:pyruvate_dehydrogenase_deficiency |
| gptkb:B-RAF1 | gptkb:melanoma |
| gptkb:PAX6 | gptkb:aniridia |
| gptkb:TGF-beta_superfamily | gptkb:Marfan_syndrome |
| gptkb:RAG-2_protein | gptkb:Severe_Combined_Immunodeficiency_(SCID) |
| gptkb:APC_protein | colorectal cancer |
| gptkb:CD3_zeta | gptkb:immunodeficiency |
| gptkb:Mitochondrial_complex_I_deficiency | MT-ND5 gene |
| gptkb:RAC1_gene | can cause intellectual disability |
| gptkb:Gly238Ser_mutation | missense mutation |
| gptkb:RAS_protein | pancreatic cancer |
| gptkb:PTPRT | tumor suppressor inactivation |
| gptkb:Hereditary_Non-Polyposis_Colorectal_Cancer | gptkb:MSH6 |
| gptkb:hepatocyte_growth_factor_receptor | gptkb:cancer |
| gptkb:NSD1_gene | deletion |
| gptkb:SERPINA3 | gptkb:liver_disease |
| gptkb:Liddle_syndrome | gptkb:SCNN1G_gene |
| gptkb:PANK2_gene | splice-site |