Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.600 CausalMutation disease CLINVAR
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
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
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.600 Biomarker disease CTD_human
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.600 GeneticVariation disease CLINVAR
CUI: C3808184
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 		0.600 Biomarker disease GENOMICS_ENGLAND Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
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 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 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 HPO
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 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 BEFREE ZBTB18 may also contribute to microcephaly and HNRNPU to thin corpus callosum, but with a lower penetrance. 28283832 2017
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 HPO
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: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation disease CLINVAR
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain. 9568537 1997
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion. 22095278 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR The zinc finger-associated SCAN box is a conserved oligomerization domain. 10567577 1999