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: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. 27598823 2017
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. 27598823 2017
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026650
Disease:
Movement Disorders 		T 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: 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 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: C0000772
Disease:
Multiple congenital anomalies 		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: rs875989786
rs875989786
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. 27598823 2017
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs797044885
rs797044885
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs875989786
rs875989786
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		T 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: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		T 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: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinical whole exome sequencing in child neurology practice. 25131622 2014
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026650
Disease:
Movement Disorders 		T 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: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Clinical whole exome sequencing in child neurology practice. 25131622 2014
dbSNP: rs1553270522
rs1553270522
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0026650
Disease:
Movement Disorders 		T 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: 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