LBR, lamin B receptor, 3930

N. diseases: 307; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
0.400 Biomarker disease GENOMICS_ENGLAND Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
CUI: C1866730
Disease: Rhizomelia
Rhizomelia
0.400 Biomarker disease HPO