Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
0.030 GeneticVariation disease BEFREE SMYD2 deficiency delayed renal cyst growth in postnatal kidneys from Pkd1 mutant mice. 28604386 2017
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
0.030 GeneticVariation disease BEFREE Genetic analysis of PKD genes from peripheral blood lymphocytes and renal cyst epithelium identified a constitutional PKD1 germline mutation, p.Trp1582Ser, predicted to be pathogenic. 26718059 2016
CUI: C0268800
Disease: Simple renal cyst
Simple renal cyst
0.030 GeneticVariation disease BEFREE We have previously shown that in the case of PKD1, renal cyst development is likely to require somatic inactivation of the normal allele coupled to a germline PKD1 mutation. 9734362 1998