Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. 27598823

2017
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508

2016
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Clinical whole exome sequencing in child neurology practice. 25131622

2014
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070

2014
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. 24193349

2014
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. 23494996

2013
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development. 22513377

2012
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. 22095278

2012
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. 22678713

2012
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. 21800092

2012
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. 21934713

2012
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex. 22234186

2012
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. 20382278

2010
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375

2010
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex. 19409883

2009
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. 20059953

2009
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. 17668379

2007
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain. 17447250

2007
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). 14681759

2003
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Transcription factor haploinsufficiency: when half a loaf is not enough. 11854316

2002
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription. 11350943

2001
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Zinc finger proteins: new insights into structural and functional diversity. 11179890

2001
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR The zinc finger-associated SCAN box is a conserved oligomerization domain. 10567577

1999
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression. 9756912

1998