Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.150 GeneticVariation disease BEFREE Using a novel conditional RP58 allele here we show that its CNS-specific loss yields a novel postnatal phenotype: microencephaly, agenesis of the corpus callosum and cerebellar hypoplasia that resembles the chr1qter deletion microcephaly syndrome in human. 22095278 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.150 GeneticVariation disease BEFREE Patients with pathogenic variants in ZBTB18 present with Intellectual Disability (ID) with frequent co-occurrence of corpus callosum (CC) anomalies, hypotonia, microcephaly, growth problems and variable facial dysmorphologies. 29573576 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.150 Biomarker disease BEFREE ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. 28345786 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.150 Biomarker disease BEFREE Two copies of AKT3 and ZNF238, two previously proposed dosage sensitive candidate genes for microcephaly and agenesis of the corpus callosum, were retained in two of our patients. 20382278 2010
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.150 Biomarker disease BEFREE ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance. 28283832 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. 28345786 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE Patients with pathogenic variants in ZBTB18 present with Intellectual Disability (ID) with frequent co-occurrence of corpus callosum (CC) anomalies, hypotonia, microcephaly, growth problems and variable facial dysmorphologies. 29573576 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE Here we provide additional evidence for haploinsufficiency or dysfunction of the ZBTB18 gene as the cause of ID in five unrelated patients with variable syndromic features who underwent whole exome sequencing revealing separate de novo pathogenic or likely pathogenic variants in ZBTB18 (two missense alterations and three truncating alterations). 27598823 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 GeneticVariation disease BEFREE Incomplete penetrance or haploinsufficiency of other genes from the critical region may explain the absence of corpus callosum agenesis in this patient with a ZBTB18 point mutation. 24193349 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.120 Biomarker disease BEFREE Two copies of AKT3 and ZNF238, two previously proposed dosage sensitive candidate genes for microcephaly and agenesis of the corpus callosum, were retained in two of our patients. 20382278 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.110 GeneticVariation phenotype BEFREE Among these genes is ZBTB18 (ZNF238), which is deleted in patients with 1q43q44 microdeletions who typically present with ID, microcephaly, corpus callosum (CC) abnormalities, and seizures. 27598823 2017
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.060 GeneticVariation disease BEFREE The X-linked disease Barth syndrome (BTHS) is caused by mutations in the tafazzin gene TAZ1. 21300850 2011
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.060 Biomarker disease BEFREE Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome. 16135531 2005
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.060 GeneticVariation disease BEFREE Overexpression of branched-chain amino acid aminotransferases rescues the growth defects of cells lacking the Barth syndrome-related gene TAZ1. 30604168 2019
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.060 GeneticVariation disease BEFREE Given that the bioenergetics functions are preserved in the double mutant, this suggests that the accumulated MLCL-rather than the changed CL speciation-are the likely major contributors to the mitochondrial dysfunction in taz1Δ mutant cells (also characteristic of Barth syndrome). 27982579 2017
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.060 GeneticVariation disease BEFREE Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. 14651618 2004
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.060 Biomarker disease BEFREE Here, we show that overexpressing Odc1p, a conserved oxodicarboxylic acid carrier located in the mitochondrial inner membrane, fully restores oxidative phosphorylation in a yeast model (<i>taz1Δ</i>) of BTHS. 28188263 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE ZNF238 is thus a novel brain tumor suppressor and its reactivation in tumors could open a novel anticancer strategy. 20103640 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE At the N-terminus, C2H2-171 contains a POZ/tramtrack-like domain similar to that found in the tumor associated zinc finger proteins LAZ-3/BCL-6 and PLZ-F, as well as in non-zinc finger proteins. 9568537 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE These results indicate that ZBTB18 functions as a tumor suppressor in GBM through the regulation of genes associated with phenotypically aggressive properties.<b>Implications:</b> This study characterizes the role of the putative tumor suppressor ZBTB18 and its regulation by promoter hypermethylation, which appears to be a common mechanism to silence ZBTB18 in the mesenchymal subtype of GBM and provides a new mechanistic opportunity to specifically target this tumor subclass.<i></i>. 28512252 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.040 Biomarker group BEFREE For example, zinc finger protein 238 (ZNF238), known as a tumor suppressor, was regulated by miR-20b over-expres-sion. 26505336 2015
CUI: C0431366
Disease: Congenital malformation of corpus callosum
Congenital malformation of corpus callosum 		0.030 GeneticVariation disease BEFREE The deleted interval encompasses the ZNF238 gene but not the CEP170 or AKT3 genes, thus providing additional evidence for the former and against the latter as being causative of corpus callosum anomalies in patients with such deletions. 23494996 2013
CUI: C0431366
Disease: Congenital malformation of corpus callosum
Congenital malformation of corpus callosum 		0.030 Biomarker disease BEFREE This report indicates that haploinsufficiency of additional genes beside ZBTB18 causes the high frequency of corpus callosum anomalies in patients with microdeletions of 1q43q44 and underlines the importance of an NGS-based molecular diagnostic in complex phenotypes. 28345786 2017
CUI: C0431366
Disease: Congenital malformation of corpus callosum
Congenital malformation of corpus callosum 		0.030 GeneticVariation disease BEFREE ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance. 28283832 2017
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.020 AlteredExpression group BEFREE We have shown that RP58 (aka zfp238 or znf238) is highly expressed in differentiating neurons, that its expression is lost or diminished in brain tumors, and that its reintroduction blocks their proliferation. 22095278 2012