Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6155
Gene Symbol: RPL27
RPL27
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.510 GeneticVariation ORPHANET Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia. 25424902

2015

Entrez Id: 6155
Gene Symbol: RPL27
RPL27
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2
0.300 GeneticVariation ORPHANET Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 25424902

2015