RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Klippel-Feil Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.010 Biomarker disease BEFREE A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity. 30524470 2018