Gene: SZT2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.160 GeneticVariation disease BEFREE Our results expand the genotype and phenotypes of SZT2-related DEEs, suggesting that SZT2 mutations play a role in developmental delay and epileptic encephalopathy, with high susceptibility to SE and relatively specific MRI findings. 31397114 2019
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.160 GeneticVariation disease BEFREE Recently, biallelic SZT2 mutations were found in 7 patients (from 5 families) presenting with epileptic encephalopathy with dysmorphic features and/or non-syndromic intellectual disabilities. 28556953 2018
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.160 GeneticVariation disease BEFREE Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. 28893434 2018
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.160 GeneticVariation disease BEFREE Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy. 29696782 2018
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.160 GeneticVariation disease BEFREE Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants. 27248490 2016
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.160 GeneticVariation disease BEFREE Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. 24324832 2013
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		0.160 Biomarker disease HPO