Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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