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:RAS_gene_family_in_humans | gptkb:Costello_syndrome |
| gptkb:Aminoacyl-tRNA_synthetase | human diseases |
| gptkb:CASQ2 | gptkb:catecholaminergic_polymorphic_ventricular_tachycardia |
| gptkb:leukocyte_adhesion_deficiency_type_1 | gptkb:ITGB2_gene |
| gptkb:Cys-loop_receptors | mutations can cause neurological disorders |
| gptkb:FGF_signaling_pathway | FGFR1 causes Kallmann syndrome |
| gptkb:Lambent_Locust | gptkb:Locust_Horde |
| gptkb:Endoribonuclease_Dicer | gptkb:DICER1_syndrome |
| gptkb:CDKN2A_protein | gptkb:melanoma |
| gptkb:KIT_ligand | germ cell loss |
| gptkb:C9orf72_(human) | hexanucleotide repeat expansion |
| gptkb:Tumor_protein_p53_(human) | gptkb:Li-Fraumeni_syndrome |
| gptkb:PICALM_gene | can result in fusion with MLLT10 in leukemia |
| gptkb:K-ras | colorectal cancer |
| gptkb:DNA_polymerase_delta | gptkb:immunodeficiency |
| gptkb:ABCC1 | can confer resistance to chemotherapy |
| gptkb:CHD7 | splice site |
| gptkb:clear_cell_ovarian_carcinoma | gptkb:ARID1A |
| gptkb:DEAD_box_protein_family | infertility |
| gptkb:Rat_sarcoma_protein | gptkb:cancer |