P3H2, prolyl 3-hydroxylase 2, 55214

N. diseases: 17; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation
0.010 GeneticVariation disease BEFREE Recessive LEPREL1 mutations should be recognized as part of the differential diagnosis of lens subluxation. 25469533 2015