Gene: ZBTB18 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537

1997
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537

1997
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression. 9756912

1998
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression. 9756912

1998
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR The zinc finger-associated SCAN box is a conserved oligomerization domain. 10567577

1999
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR The zinc finger-associated SCAN box is a conserved oligomerization domain. 10567577

1999
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Zinc finger proteins: new insights into structural and functional diversity. 11179890

2001
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Zinc finger proteins: new insights into structural and functional diversity. 11179890

2001
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription. 11350943

2001
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription. 11350943

2001
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Transcription factor haploinsufficiency: when half a loaf is not enough. 11854316

2002
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Transcription factor haploinsufficiency: when half a loaf is not enough. 11854316

2002
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). 14681759

2003
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome). 14681759

2003
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain. 17447250

2007
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain. 17447250

2007
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 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
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 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
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex. 19409883

2009
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex. 19409883

2009
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. 20059953

2009
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 GeneticVariation CLINVAR A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58. 20059953

2009
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 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
dbSNP: rs797044885
rs797044885
ZBTB18
G 0.700 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
dbSNP: rs1553270522
rs1553270522
ZBTB18
T 0.700 GeneticVariation CLINVAR Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 20672375

2010