Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.630 Biomarker disease BEFREE Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). 31782611 2020
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.630 AlteredExpression disease BEFREE POGZ (# 614787) encodes a multidomain nuclear protein involved in transcriptional regulation and its defective function has been recently associated with a syndromic neurodevelopmental disorder, known as White-Sutton syndrome (# 616364). 31136090 2019
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.630 GermlineCausalMutation disease ORPHANET POGZ truncating alleles cause syndromic intellectual disability. 26739615 2016
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.630 AlteredExpression disease BEFREE Eight of these changes affect KMT2D, ZEB2, MAP2K2, GLDC, CASK, MECP2, KDM5C, and POGZ, known to be associated with Kabuki syndrome 1, Mowat-Wilson syndrome, cardiofaciocutaneous syndrome, glycine encephalopathy, mental retardation and microcephaly with pontine and cerebellar hypoplasia, X-linked mental retardation 13, X-linked mental retardation Claes-Jensen type, and White-Sutton syndrome, respectively. 27799067 2016
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.630 CausalMutation disease CLINVAR POGZ truncating alleles cause syndromic intellectual disability. 26739615 2016
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.630 CausalMutation disease CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.630 GeneticVariation disease CLINVAR
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.630 Biomarker disease CTD_human
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
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.340 GeneticVariation group BEFREE Furthermore, by leveraging published large-scale sequencing data of neurodevelopmental disorders (NDDs) and sporadic case reports, we identified 8 de novo missense variants of POGZ in NDD patients. 31196716 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.340 Biomarker group BEFREE On the other hand, accumulating pieces of evidence indicate that the POGZ gene abnormalities are involved in various neurodevelopmental disorders. 31430754 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.340 AlteredExpression group BEFREE POGZ (# 614787) encodes a multidomain nuclear protein involved in transcriptional regulation and its defective function has been recently associated with a syndromic neurodevelopmental disorder, known as White-Sutton syndrome (# 616364). 31136090 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.340 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.340 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.150 GeneticVariation disease BEFREE We detected a novel de novo missense variant in POGZ (c.1534C>A, p.H512N, NM_015100.4) in an individual with ASD. 31347273 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.150 GeneticVariation disease BEFREE Our study showed the important roles of rare inherited missense variants of POGZ in ASD risk and neuronal development and identified the potential downstream targets of POGZ, which are important for further molecular mechanism studies. 31196716 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.150 GeneticVariation disease BEFREE De novo mutations in POGZ has been causally linked to isolated ASD and syndromic ID, only recently. 28480548 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.150 Biomarker disease BEFREE POGZ, the gene encoding pogo transposable element-derived protein with zinc-finger domain, has been implicated in autism spectrum disorder and it is widely expressed in the human tissues, including the brain. 26763879 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.150 GeneticVariation disease 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