Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12027747
rs12027747
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1558149913
rs1558149913
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1085307108
rs1085307108
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553270599
rs1553270599
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553270640
rs1553270640
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026351
Disease:
Moderate intellectual disability 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C4551563
Disease:
Microcephaly (physical finding) 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0424503
Disease:
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C3808184
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs869312689
rs869312689
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0454644
Disease:
Delayed speech and language development 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. 24193349 2014
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain. 17447250 2007
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		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: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. 21934713 2012
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Zinc finger proteins: new insights into structural and functional diversity. 11179890 2001
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. 21934713 2012
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Clinical whole exome sequencing in child neurology practice. 25131622 2014
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. 22095278 2012
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. 27598823 2017
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. 23494996 2013