P3H2, prolyl 3-hydroxylase 2, 55214

N. diseases: 17; N. variants: 5
Disease: Ectopia Lentis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.010 GeneticVariation disease BEFREE To clinically characterize a cohort of patients with ectopia lentis (EL), or Marfanoid features in whom a definite genetic diagnosis of Marfan syndrome (MFS) had been excluded (atypical MFS), and to evaluate the contribution of mutations in ADAMTSL4 (OMIM * 610113), and P3H2 (LEPREL1; OMIM * 610341) to disease in this population. 28394649 2017