Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55214
Gene name	Prolyl 3-hydroxylase 2
Gene symbol	P3H2
Synonyms (NCBI Gene)	LEPREL1MCVDMLAT4
Chromosome	3
Chromosome location	3q28
Summary	This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of prol

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs377600857	G>A	Pathogenic	Coding sequence variant, stop gained
rs724159988	C>A	Pathogenic	Missense variant, coding sequence variant
rs724160006	G>A	Pathogenic	Stop gained, coding sequence variant
rs745507744	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs767012332	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs778079243	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs895635914	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064796858	C>A	Pathogenic	Splice donor variant
rs1408355931	C>A,G,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant

108

Show/Hide all (108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT687696	hsa-miR-891b	HITS-CLIP	23313552
MIRT635555	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT687695	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT687694	hsa-miR-147a	HITS-CLIP	23313552
MIRT635544	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT635562	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT635561	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT635560	hsa-miR-5698	HITS-CLIP	23824327
MIRT635559	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT635558	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT635557	hsa-miR-4525	HITS-CLIP	23824327
MIRT635556	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT635555	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT635554	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT635553	hsa-miR-1275	HITS-CLIP	23824327
MIRT635552	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT635551	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT635550	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT635549	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT635548	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT635547	hsa-miR-4260	HITS-CLIP	23824327
MIRT635546	hsa-miR-5572	HITS-CLIP	23824327
MIRT635545	hsa-miR-4455	HITS-CLIP	23824327
MIRT635544	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT458700	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT458699	hsa-miR-570-3p	PAR-CLIP	23592263
MIRT458698	hsa-miR-3653-3p	PAR-CLIP	23592263
MIRT458697	hsa-miR-627-5p	PAR-CLIP	23592263
MIRT742318	hsa-miR-1275	HITS-CLIP	27418678
MIRT742318	hsa-miR-1275	HITS-CLIP	27418678
MIRT741087	hsa-miR-147a	HITS-CLIP	27418678
MIRT741087	hsa-miR-147a	HITS-CLIP	27418678
MIRT741087	hsa-miR-147a	HITS-CLIP	27418678
MIRT741087	hsa-miR-147a	HITS-CLIP	27418678
MIRT742324	hsa-miR-4260	HITS-CLIP	27418678
MIRT742324	hsa-miR-4260	HITS-CLIP	27418678
MIRT742326	hsa-miR-4455	HITS-CLIP	27418678
MIRT742326	hsa-miR-4455	HITS-CLIP	27418678
MIRT742326	hsa-miR-4455	HITS-CLIP	27418678
MIRT742326	hsa-miR-4455	HITS-CLIP	27418678
MIRT742323	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT742323	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT742315	hsa-miR-4525	HITS-CLIP	27418678
MIRT742315	hsa-miR-4525	HITS-CLIP	27418678
MIRT742319	hsa-miR-4665-5p	HITS-CLIP	27418678
MIRT742319	hsa-miR-4665-5p	HITS-CLIP	27418678
MIRT742311	hsa-miR-4723-5p	HITS-CLIP	27418678
MIRT742311	hsa-miR-4723-5p	HITS-CLIP	27418678
MIRT742316	hsa-miR-5010-5p	HITS-CLIP	27418678
MIRT742316	hsa-miR-5010-5p	HITS-CLIP	27418678
MIRT742325	hsa-miR-5572	HITS-CLIP	27418678
MIRT742325	hsa-miR-5572	HITS-CLIP	27418678
MIRT742312	hsa-miR-5698	HITS-CLIP	27418678
MIRT742312	hsa-miR-5698	HITS-CLIP	27418678
MIRT741088	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT741088	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT741088	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT741088	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT742310	hsa-miR-625-5p	HITS-CLIP	27418678
MIRT742310	hsa-miR-625-5p	HITS-CLIP	27418678
MIRT742317	hsa-miR-6740-5p	HITS-CLIP	27418678
MIRT742317	hsa-miR-6740-5p	HITS-CLIP	27418678
MIRT742321	hsa-miR-6751-5p	HITS-CLIP	27418678
MIRT742321	hsa-miR-6751-5p	HITS-CLIP	27418678
MIRT742322	hsa-miR-6803-5p	HITS-CLIP	27418678
MIRT742322	hsa-miR-6803-5p	HITS-CLIP	27418678
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT742313	hsa-miR-6870-5p	HITS-CLIP	27418678
MIRT742313	hsa-miR-6870-5p	HITS-CLIP	27418678
MIRT742320	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT742320	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT742314	hsa-miR-7111-5p	HITS-CLIP	27418678
MIRT742314	hsa-miR-7111-5p	HITS-CLIP	27418678
MIRT741084	hsa-miR-891b	HITS-CLIP	23313552
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT741087	hsa-miR-147a	HITS-CLIP	23313552
MIRT741088	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT742310	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT742311	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT742312	hsa-miR-5698	HITS-CLIP	23824327
MIRT742313	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT742314	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT742315	hsa-miR-4525	HITS-CLIP	23824327
MIRT742316	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT742317	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT742318	hsa-miR-1275	HITS-CLIP	23824327
MIRT742319	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT742320	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT742321	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT742322	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT742323	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT742324	hsa-miR-4260	HITS-CLIP	23824327
MIRT742325	hsa-miR-5572	HITS-CLIP	23824327
MIRT742326	hsa-miR-4455	HITS-CLIP	23824327
MIRT741088	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT755158	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT755159	hsa-miR-570-3p	PAR-CLIP	23592263
MIRT755160	hsa-miR-3653-3p	PAR-CLIP	23592263
MIRT755161	hsa-miR-627-5p	PAR-CLIP	23592263

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	15063763
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	15063763
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	19436308
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0019511	Process	Peptidyl-proline hydroxylation	IDA	18487197
GO:0019797	Function	Procollagen-proline 3-dioxygenase activity	IBA
GO:0019797	Function	Procollagen-proline 3-dioxygenase activity	IDA	18487197
GO:0019797	Function	Procollagen-proline 3-dioxygenase activity	IEA
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0032963	Process	Collagen metabolic process	IBA
GO:0032963	Process	Collagen metabolic process	IDA	18487197
GO:0032963	Process	Collagen metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA

MIM	HGNC	e!Ensembl
610341	19317	ENSG00000090530

Q8IVL5

Protein name

Prolyl 3-hydroxylase 2 (EC 1.14.11.7) (Leprecan-like protein 1) (Myxoid liposarcoma-associated protein 4)

Protein function

Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens (PubMed:18487197). Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13640	2OG-FeII_Oxy_3	570 → 670	2OG-Fe(II) oxygenase superfamily	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells

Sequence

MRERIWAPPLLLLLPLLLPPPLWGGPPDSPRRELELEPGPLQPFDLLYASGAAAYYSGDY
ERAVRDLEAALRSHRRLREIRTRCARHCAARHPLPPPPPGEGPGAELPLFRSLLGRARCY
RSCETQRLGGPASRHRVSEDVRSDFQRRVPYNYLQRAYIKLNQLEKAVEAAHTFFVANPE
HMEMQQNIENYRATAGVEALQLVDREAKPHMESYNAGVKHYEADDFEMAIRHFEQALREY
FVEDTECRTLCEGPQRFEEYEYLGYKAGLYEAIADHYMQVLVCQHECVRELATRPGRLSP
IENFLPLHYDYLQFAYYRVGEYVKALECAKAYLLCHPDDEDVLDNVDYYESLLDDSIDPA
SIEAREDLTMFVKRHKLESELIKSAAEGLGFSYTEPNYWIRYGGRQDENRVPSGVNVEGA
EVHGFSMGKKLSPKIDRDLREGGPLLYENITFVYNSEQLNGTQRVLLDNVLSEEQCRELH
SVASGIMLVGDGYRGKTSPHTPNEKFEGATVLKALKSGYEGRVPLKSARLFYDISEKARR
IVESYFMLNSTLYFSYTHMVCRTALSGQQDRRNDLSHPIHADNCLLDPEANECWKEPPAY
TFRDYSALLYMNDDFEGGEFIFTEMDAKTVTASIKPKCGRMISFSSGGENPHGVKAVTKG
KRCAVALWFTLDPLYRELERIQADEVIAILDQEQQGKHELNINPKDEL

Sequence length

708

Interactions

View interactions

	Reactome
			Collagen biosynthesis and modifying enzymes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Melanoma	Likely pathogenic	rs1577254356	RCV005925534	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia, high, with cataract and vitreoretinal degeneration	Pathogenic; Likely pathogenic	rs2108908334, rs773586841, rs724160006, rs875989838, rs724159988, rs1408355931, rs377600857	RCV001806438 RCV004785412 RCV000149825 RCV000210936 RCV003486336 RCV000023807 RCV000787019 RCV001809893 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
P3H2-related disorder	Likely pathogenic; Pathogenic	rs1440913446	RCV003416301	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare isolated myopia	Pathogenic	rs200083855	RCV003389506	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs377600857	RCV001003107	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29956121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	19436308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19436308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	19436308	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29956121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	24172257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	33339270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopia Lentis	Ectopia Lentis	BEFREE	28394649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	32792077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lens Subluxation	Lens Subluxation	BEFREE	25469533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29981437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19436308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29956121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	28394649		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19436308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopia	Myopia	ORPHANET_DG	21885030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	21885030, 28442722	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	BEFREE	25645914		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION	Myopia, High, With Cataract And Vitreoretinal Degeneration	GENOMICS_ENGLAND_DG	21885030		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION	Myopia, High, With Cataract And Vitreoretinal Degeneration	UNIPROT_DG	21885030		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION	Myopia, High, With Cataract And Vitreoretinal Degeneration	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION	Myopia, High, With Cataract And Vitreoretinal Degeneration	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasms	Neoplasms	BEFREE	19436308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32840049	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32234053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rare isolated myopia	Rare Isolated Myopia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe myopia	Myopia	BEFREE	24172257, 25645914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29956121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

P3H2 (prolyl 3-hydroxylase 2)