Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group BEFREE Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). 31782611 2020
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 GeneticVariation group BEFREE De novo likely gene-disrupting variants of POGZ cause autism spectrum disorder (ASD) and intellectual disability. 31347273 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 GeneticVariation group BEFREE De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. 28480548 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.450 Biomarker group HPO