Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.430 GeneticVariation disease BEFREE Mutations in EIF2S3, encoding the eIF2γ subunit, are associated with severe intellectual disability and microcephaly, usually as part of MEHMO syndrome. 30878599 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.430 Biomarker disease GENOMICS_ENGLAND EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. 28055140 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.430 Biomarker disease BEFREE Morpholino-based knockdown of the zebrafish EIF2S3 ortholog (eif2s3) recapitulates the human microcephaly and short stature phenotype, supporting the pathogenicity of the identified variants. 27333055 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.430 GeneticVariation disease BEFREE Here, we show that a human X-chromosomal neurological disorder characterized by intellectual disability and microcephaly is caused by a missense mutation in eIF2γ (encoded by EIF2S3), the core subunit of the heterotrimeric eIF2 complex. 23063529 2012
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.430 Biomarker disease HPO