Gene: POGZ ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.450 Biomarker group GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.450 GeneticVariation group BEFREE De novo likely gene-disrupting variants of POGZ cause autism spectrum disorder (ASD) and intellectual disability. 31347273 2019
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.450 Biomarker group HPO
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.450 Biomarker group BEFREE Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). 31782611 2020
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.450 GeneticVariation group BEFREE De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. 28480548 2017
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.450 GeneticVariation group BEFREE We collected the clinical and molecular data of 25 individuals with disruptive mutations in POGZ by diagnostic whole-exome, whole-genome, or targeted sequencing of 5,223 individuals with neurodevelopmental disorders (ID primarily) or by targeted resequencing of this locus in 12,041 individuals with ASD and/or ID. 26942287 2016
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.450 GeneticVariation group BEFREE Our finding broadens the spectrum of POGZ mutations and may help to understand the molecular basis of ID and aid genetic counseling. 26763879 2016