MARCKSL1, MARCKS like 1, 65108

N. diseases: 169; N. variants: 1
Disease: Bone Diseases, Developmental ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.010 AlteredExpression group BEFREE In vitro testing of RNase MRP multiprotein-specific mRNA and rRNA cleavage of different mutations revealed a strong correlation between the decrease in rRNA cleavage in ribosomal assembly and the degree of bone dysplasia, whereas reduced mRNA cleavage, and thus cell-cycle impairment, predicts the presence of hair hypoplasia, immunodeficiency, and hematological abnormalities and thus increased cancer risk. 17701897 2007