Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3
0.310 GeneticVariation disease BEFREE In this largest series to date on KCTD3-mutated patients, we show that biallelic loss of function mutations in KCTD3 lead to a consistent phenotype of developmental epileptic encephalopathy and abnormal cerebellum on brain imaging. 29406573 2018
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3
0.310 Biomarker disease GENOMICS_ENGLAND Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015