Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310703
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. 21734151 2011
CUI: C4310703
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 		0.600 CausalMutation disease CLINVAR
CUI: C4310703
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 		0.600 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 GeneticVariation group BEFREE Importantly, mutations in the gene encoding the human Nab2 orthologue ZC3H14 and cause intellectual disability. 30578643 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 GeneticVariation group BEFREE Although ZC3H14 is ubiquitously expressed, mutation of the ZC3H14 gene causes a non-syndromic form of intellectual disability. 29912477 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 GeneticVariation group BEFREE We recently identified mutations in a gene that encodes a ubiquitously expressed polyadenosine RNA-binding protein, ZC3H14 (Zinc finger CysCysCysHis domain-containing protein 14), that cause a nonsyndromic, autosomal recessive form of intellectual disability. 28666327 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 GeneticVariation group BEFREE Here we report a human intellectual disability disease locus on chromosome 14q31.3 corresponding to mutation of the ZC3H14 gene that encodes a conserved polyadenosine RNA binding protein. 21734151 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker group GENOMICS_ENGLAND Here we report a human intellectual disability disease locus on chromosome 14q31.3 corresponding to mutation of the ZC3H14 gene that encodes a conserved polyadenosine RNA binding protein. 21734151 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.440 Biomarker group HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		0.100 Biomarker disease HPO
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 Biomarker phenotype HPO
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO