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:BRAF_V600E_mutation | missense mutation |
| gptkb:FGFR2 | gptkb:Beare-Stevenson_cutis_gyrata_syndrome |
| gptkb:TCF7L2 | increased risk of type 2 diabetes |
| gptkb:MITF | pigmentation defects |
| gptkb:SIRT3_gene | hearing loss |
| gptkb:RNA_polymerase_III | gptkb:Treacher_Collins_syndrome |
| gptkb:Omenn_syndrome | gptkb:RAG1_gene |
| gptkb:retinoblastoma_susceptibility_protein | gptkb:retinoblastoma |
| gptkb:Dravet_syndrome | gptkb:SCN1A_gene |
| gptkb:Neural_cell_adhesion_molecule_L1 | spastic paraplegia |
| gptkb:c-Kit_receptor | gptkb:mastocytosis |
| gptkb:TGF-beta_receptor_family | gptkb:Marfan_syndrome |
| gptkb:Wnt7A | limb malformations |
| gptkb:Oculocutaneous_albinism_II | gptkb:OCA2_gene |
| gptkb:Ovarian_clear_cell_adenocarcinoma | gptkb:PIK3CA |
| gptkb:SLC12A5 | epilepsy |
| gptkb:ASIP | coat color variation |
| gptkb:Leber_congenital_amaurosis | gptkb:TULP1_gene |
| gptkb:Sonic_Hedgehog_(gene) | gptkb:holoprosencephaly |
| gptkb:Dmd | deletion |