RPL11, ribosomal protein L11, 6135

N. diseases: 61; N. variants: 6
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE Mutations in RPL5 and RPL11 are at a high risk for developing malformation. 20882441 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE Genotype-phenotype analysis reveals that malformations are more frequently associated with mutations in RPL5 and RPL11 than in the other genes. 20960466 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 Biomarker group BEFREE Genotype-phenotype data suggest that mutation screening should begin with RPL5 and RPL11 in patients with Diamond-Blackfan anemia with malformations. 19773262 2010
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.040 GeneticVariation group BEFREE Remarkably, careful review of the clinical data showed that mutations in RPL5 are associated with multiple physical abnormalities, including craniofacial, thumb, and heart anomalies, whereas isolated thumb malformations are predominantly present in patients carrying mutations in RPL11. 19061985 2008