P3H2, prolyl 3-hydroxylase 2, 55214

N. diseases: 17; N. variants: 5
Disease: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280346
Disease: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		0.700 Biomarker disease GENOMICS_ENGLAND High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. 21885030 2011
CUI: C3280346
Disease: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		0.700 GeneticVariation disease UNIPROT High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. 21885030 2011
CUI: C3280346
Disease: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3280346
Disease: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		0.700 CausalMutation disease CLINVAR
CUI: C3280346
Disease: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3280346
Disease: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION 		0.700 Biomarker disease CTD_human