ZNF711, zinc finger protein 711, 7552

N. diseases: 52; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.600 GeneticVariation disease UNIPROT Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 27993705 2017
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.600 GeneticVariation disease CLINVAR Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 27993705 2017
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.600 Biomarker disease GENOMICS_ENGLAND A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.600 GeneticVariation disease UNIPROT A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.600 GeneticVariation disease CLINVAR A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C2749020
Disease: Mental Retardation, X-Linked, Znf711-Related
Mental Retardation, X-Linked, Znf711-Related 		0.600 CausalMutation disease CLINVAR
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.520 AlteredExpression disease BEFREE A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. 20346720 2010
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.520 Biomarker disease CTD_human The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. 19377476 2009
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.520 GeneticVariation disease BEFREE X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region. 10398247 1999
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.520 Biomarker disease GENOMICS_ENGLAND
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. 28630650 2017
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 27993705 2017
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD). 21384559 2011
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GermlineCausalMutation disease ORPHANET A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE Interestingly, mutations in all four genes (KDM5C, ARX, ZNF711 and PHF8) are associated with X-linked NDDs comprising intellectual disability as a core feature. in vitro analysis of the KDM5C promoter revealed that ARX and ZNF711 function as antagonist transcription factors that activate KDM5C expression and compete for the recruitment of PHF8. 31691806 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE Patients with mutations in ZNF711 all present with mild to moderate ID and poor speech accompanied by additional features in some patients, including autistic features and mild facial dysmorphisms, suggesting that ZNF711 mutations cause non-syndromic ID. 27993705 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation disease CLINVAR Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 27993705 2017
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.100 GeneticVariation disease CLINVAR Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 27993705 2017
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation disease CLINVAR A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.100 GeneticVariation disease CLINVAR A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO