P3H2, prolyl 3-hydroxylase 2, 55214

N. diseases: 17; N. variants: 5
Disease: Cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract 		0.110 GeneticVariation disease BEFREE The results show that LEPREL1 plays an important role in eye development and homozygous loss-of-function mutation of this gene can cause severely high myopia and early-onset cataract. 24172257 2014
CUI: C0086543
Disease: Cataract
Cataract 		0.110 Biomarker disease HPO