Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.600 Biomarker disease GENOMICS_ENGLAND Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.600 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.600 CausalMutation disease CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.600 Biomarker disease CTD_human
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
0.600 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.400 Biomarker disease HPO
CUI: C4273897
Disease: Distal monosomy 1q
Distal monosomy 1q
0.300 ChromosomalRearrangement disease ORPHANET A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. 24193349 2014
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 ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance. 28283832 2017
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 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 HPO
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 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 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group HPO
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: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.120 Biomarker disease HPO
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: C0036572
Disease: Seizures
Seizures
0.110 Biomarker phenotype HPO
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.100 GeneticVariation group CLINVAR Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. 27598823 2017