Disease: White Sutton syndrome ×
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