RPL15, ribosomal protein L15, 6138

N. diseases: 47; N. variants: 3
Disease: DIAMOND-BLACKFAN ANEMIA 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809888
Disease: DIAMOND-BLACKFAN ANEMIA 12
DIAMOND-BLACKFAN ANEMIA 12 		0.500 Biomarker disease GENOMICS_ENGLAND Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. 29599205 2018
CUI: C3809888
Disease: DIAMOND-BLACKFAN ANEMIA 12
DIAMOND-BLACKFAN ANEMIA 12 		0.500 Biomarker disease GENOMICS_ENGLAND Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013
CUI: C3809888
Disease: DIAMOND-BLACKFAN ANEMIA 12
DIAMOND-BLACKFAN ANEMIA 12 		0.500 Biomarker disease GENOMICS_ENGLAND Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. 23812780 2013
CUI: C3809888
Disease: DIAMOND-BLACKFAN ANEMIA 12
DIAMOND-BLACKFAN ANEMIA 12 		0.500 Biomarker disease CTD_human