RPL10, ribosomal protein L10, 6134

N. diseases: 116; N. variants: 6
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease BEFREE A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. 25316788 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease BEFREE In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and highlight the work of Brooks et al., "Dysfunction of 60S ribosomal protein L10 (RPL10) disrupts neurodevelopment and causes X-linked microcephaly in humans," published in this issue of GENETICS. 25316782 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO