P3H2, prolyl 3-hydroxylase 2, 55214

N. diseases: 17; N. variants: 5
Disease: Severe myopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.120 GeneticVariation disease BEFREE Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations. 25645914 2015
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.120 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: C0271183
Disease: Severe myopia
Severe myopia 		0.120 Biomarker disease HPO