RPS24, ribosomal protein S24, 6229

N. diseases: 42; N. variants: 9
Disease: Aase syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		0.300 Biomarker disease CLINGEN Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 25946618 2015
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		0.300 Biomarker disease CLINGEN Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		0.300 Biomarker disease CLINGEN A census of human soluble protein complexes. 22939629 2012
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		0.300 Biomarker disease CLINGEN Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. 19773262 2010
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		0.300 Biomarker disease CLINGEN Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. 18230666 2008
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		0.300 Biomarker disease CLINGEN Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. 17186470 2006