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: 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
CUI: C0027092
Disease: Myopia
Myopia 		0.310 Biomarker disease BEFREE In this study, differences in prolyl 3-hydroxylation were screened in eye tissues from P3h2-null (P3h2(n/n)) and wild-type mice to seek tissue-specific effects due the lack of P3H2 activity on post-translational collagen chemistry that could explain myopia. 25645914 2015
CUI: C0027092
Disease: Myopia
Myopia 		0.310 GermlineCausalMutation disease ORPHANET High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. 21885030 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 PosttranslationalModification disease BEFREE Methylation of P3H2 appears specific to breast cancer as no methylation was detected in a range of cell lines from other epithelial cancers or from primary brain tumours or malignant melanoma. 19436308 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 GeneticVariation disease UNIPROT
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
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
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C3280349
Disease: Peripheral vitreoretinal degeneration
Peripheral vitreoretinal degeneration 		0.100 Biomarker phenotype HPO
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 GeneticVariation disease BEFREE Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. 29956121 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 GeneticVariation disease BEFREE Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. 29956121 2018
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 GeneticVariation disease BEFREE Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. 29956121 2018
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
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		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
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
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 PosttranslationalModification group BEFREE Methylation of P3H2 appears specific to breast cancer as no methylation was detected in a range of cell lines from other epithelial cancers or from primary brain tumours or malignant melanoma. 19436308 2009
CUI: C0025202
Disease: melanoma
melanoma 		0.010 PosttranslationalModification disease BEFREE Methylation of P3H2 appears specific to breast cancer as no methylation was detected in a range of cell lines from other epithelial cancers or from primary brain tumours or malignant melanoma. 19436308 2009