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	64175
Gene name	Prolyl 3-hydroxylase 1
Gene symbol	P3H1
Synonyms (NCBI Gene)	GROS1LEPRE1OI8
Chromosome	1
Chromosome location	1p34.2
Summary	This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associat

Show/Hide all (30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs72659348	G>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs72659351	C>A	Pathogenic	Splice donor variant
rs72659354	C>A	Pathogenic	Splice donor variant
rs72659355	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs72659356	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant, downstream transcript variant
rs113593896	T>A,C	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, coding sequence variant
rs114044880	C>A,T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs118203996	G>A,C	Pathogenic, uncertain-significance	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs137853890	C>G,T	Likely-pathogenic	Genic downstream transcript variant, downstream transcript variant, synonymous variant, coding sequence variant, intron variant
rs137853952	CT>G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs139259804	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs140468248	C>A,G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs149894086	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs200901466	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs369651701	C>T	Pathogenic	Splice donor variant
rs533729683	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, 3 prime UTR variant, coding sequence variant
rs762525651	C>A	Likely-pathogenic	Splice donor variant
rs770943260	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs786205443	C>T	Likely-pathogenic	Intron variant
rs886042897	C>G	Pathogenic	Splice acceptor variant
rs1013320485	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1229143002	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1553143142	AGAGT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1553143741	CA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1557569037	T>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1570452407	->G	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant
rs1570453963	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant
rs1570454914	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570472113	T>A	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant, stop gained
rs1570479611	G>A	Pathogenic	5 prime UTR variant, stop gained, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments	Reference
MIRT474209	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT474208	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT474207	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT474206	hsa-miR-3154	PAR-CLIP	23592263
MIRT474205	hsa-miR-2278	PAR-CLIP	23592263
MIRT474203	hsa-miR-6871-3p	PAR-CLIP	23592263
MIRT474204	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT474202	hsa-miR-3668	PAR-CLIP	23592263
MIRT474201	hsa-miR-335-5p	PAR-CLIP	23592263
MIRT474200	hsa-miR-6887-3p	PAR-CLIP	23592263
MIRT474199	hsa-miR-6795-3p	PAR-CLIP	23592263
MIRT474198	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT474197	hsa-miR-4468	PAR-CLIP	23592263
MIRT474196	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT474194	hsa-miR-7974	PAR-CLIP	23592263
MIRT474195	hsa-miR-5682	PAR-CLIP	23592263
MIRT474193	hsa-miR-6826-3p	PAR-CLIP	23592263
MIRT440333	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440333	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT755093	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT755094	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT755095	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT755096	hsa-miR-3154	PAR-CLIP	23592263
MIRT755097	hsa-miR-2278	PAR-CLIP	23592263
MIRT755098	hsa-miR-6871-3p	PAR-CLIP	23592263
MIRT755099	hsa-miR-6510-5p	PAR-CLIP	23592263
MIRT755100	hsa-miR-3668	PAR-CLIP	23592263
MIRT755101	hsa-miR-335-5p	PAR-CLIP	23592263
MIRT755102	hsa-miR-6887-3p	PAR-CLIP	23592263
MIRT755103	hsa-miR-6795-3p	PAR-CLIP	23592263
MIRT755104	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT755105	hsa-miR-4468	PAR-CLIP	23592263
MIRT755106	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT755107	hsa-miR-7974	PAR-CLIP	23592263
MIRT755108	hsa-miR-5682	PAR-CLIP	23592263
MIRT755109	hsa-miR-6826-3p	PAR-CLIP	23592263

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	30021884, 33961781
GO:0005515	Function	Protein binding	ISS	15044469
GO:0005518	Function	Collagen binding	ISS	15044469
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IDA	1095156
GO:0005737	Component	Cytoplasm	IDA	1095156
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	19846465, 20089953
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006457	Process	Protein folding	IMP	17277775
GO:0006457	Process	Protein folding	ISS	15044469
GO:0008285	Process	Negative regulation of cell population proliferation	NAS	10951563
GO:0010976	Process	Positive regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0018126	Process	Protein hydroxylation	IMP	17277775
GO:0019797	Function	Procollagen-proline 3-dioxygenase activity	IBA
GO:0019797	Function	Procollagen-proline 3-dioxygenase activity	IEA
GO:0019797	Function	Procollagen-proline 3-dioxygenase activity	ISS	15044469
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030278	Process	Regulation of ossification	IEA
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0031012	Component	Extracellular matrix	HDA	28327460
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0032963	Process	Collagen metabolic process	IBA
GO:0032963	Process	Collagen metabolic process	IEA
GO:0032963	Process	Collagen metabolic process	ISS	15044469
GO:0032991	Component	Protein-containing complex	ISS	15044469
GO:0046872	Function	Metal ion binding	IEA
GO:0050708	Process	Regulation of protein secretion	IMP	17277775
GO:0050821	Process	Protein stabilization	IMP	19846465, 22615817
GO:0051213	Function	Dioxygenase activity	IEA
GO:0060348	Process	Bone development	IMP	17277775, 22615817
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1901874	Process	Negative regulation of post-translational protein modification	IMP	17277775, 22615817

MIM	HGNC	e!Ensembl
610339	19316	ENSG00000117385

Q32P28

Protein name

Prolyl 3-hydroxylase 1 (EC 1.14.11.7) (Growth suppressor 1) (Leucine- and proline-enriched proteoglycan 1) (Leprecan-1)

Protein function

Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be in

PDB

8K0E , 8K0F , 8K0I , 8K0M , 8K17 , 8KC9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13640	2OG-FeII_Oxy_3	575 → 677	2OG-Fe(II) oxygenase superfamily	Domain

Sequence

MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTAAYARGDWPGVVLSMER
ALRSRAALRALRLRCRTQCAADFPWELDPDWSPSPAQASGAAALRDLSFFGGLLRRAACL
RRCLGPPAAHSLSEEMELEFRKRSPYNYLQVAYFKINKLEKAVAAAHTFFVGNPEHMEMQ
QNLDYYQTMSGVKEADFKDLETQPHMQEFRLGVRLYSEEQPQEAVPHLEAALQEYFVAYE
ECRALCEGPYDYDGYNYLEYNADLFQAITDHYIQVLNCKQNCVTELASHPSREKPFEDFL
PSHYNYLQFAYYNIGNYTQAVECAKTYLLFFPNDEVMNQNLAYYAAMLGEEHTRSIGPRE
SAKEYRQRSLLEKELLFFAYDVFGIPFVDPDSWTPEEVIPKRLQEKQKSERETAVRISQE
IGNLMKEIETLVEEKTKESLDVSRLTREGGPLLYEGISLTMNSKLLNGSQRVVMDGVISD
HECQELQRLTNVAATSGDGYRGQTSPHTPNEKFYGVTVFKALKLGQEGKVPLQSAHLYYN
VTEKVRRIMESYFRLDTPLYFSYSHLVCRTAIEEVQAERKDDSHPVHVDNCILNAETLVC
VKEPPAYTFRDYSAILYLNGDFDGGNFYFTELDAKTVTAEVQPQCGRAVGFSSGTENPHG
VKAVTRGQRCAIALWFTLDPRHSERDRVQADDLVKMLFSPEEMDLSQEQPLDAQQGPPEP
AQESLSGSESKPKDEL

Sequence length

736

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Likely pathogenic; Pathogenic	rs72659353	RCV005912558	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta	Pathogenic; Likely pathogenic	rs72659351, rs752575140, rs2124093521, rs1570479611, rs1330779100, rs1570453963	RCV002276526 RCV002277816 RCV002277819 RCV000790419 RCV004579563 RCV004800610 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type 8	Pathogenic; Likely pathogenic	rs137853950, rs72659353, rs1652551021, rs773832238, rs757634052, rs2124079876, rs2124076122, rs780595278, rs778110583, rs2124142972, rs752671524, rs2124174456, rs72659349, rs778209371, rs72659350 View all (92 more)	RCV003497294 RCV001371301 RCV001390265 RCV003600830 RCV003820402 View all (105 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type III	Pathogenic; Likely pathogenic	rs72659351, rs1570452407, rs1570453963	RCV005864433 RCV000860007 RCV000860008	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta, Recessive	Likely pathogenic; Pathogenic	rs72659356	RCV000778981	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
P3H1-related disorder	Likely pathogenic; Pathogenic	rs72659353, rs1652551021, rs72659351	RCV003405619 RCV003394025 RCV003914795	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (32)

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.
Acute myeloid leukemia	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome 12	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 2	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA TYPE 3	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, DOMINANT PERINATAL LETHAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOGENESIS IMPERFECTA, TYPE VIII	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bone Diseases	Bone Disease	BEFREE	17277775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	17277775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19436308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19436308	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35937944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32951492, 37081465	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	19550437, 19781681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	35327962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26330293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39276275	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35190588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35190588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobstein Disease	Lobstein Disease	CTD_human_DG	18566967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35190588	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19436308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	19862557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	17277775, 17925189, 18566967, 19088120, 19550437, 19629171, 19781681, 19862557, 19907330, 20089953, 20485499, 20839288, 20946018, 21282188, 21667357 View all (6 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	17277775, 18566967, 18996919, 19550437, 19781681, 20089953, 20188343, 20839288, 21282188, 21829228, 22281939, 22615817, 23301918, 25742658, 26634552 View all (6 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	LHGDN	18566967, 18996919		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	CTD_human_DG	18566967		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta type 2	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 2A	Osteogenesis imperfecta	Pubtator	18996919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	18566967, 35327962	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type 3	Osteogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	29329516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IX	Osteogenesis imperfecta	Pubtator	19781681, 28802583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type VIII	Osteogenesis imperfecta	Pubtator	23301918, 27383115, 28802583, 36833249, 36963805, 37437959	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	BEFREE	18996919		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, dominant perinatal lethal	Osteogenesis Imperfecta	ORPHANET_DG	21438135		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, type VIII	Osteogenesis Imperfecta	CLINVAR_DG	17277775, 19088120, 22281939, 27509835, 29150909		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, type VIII	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	19088120		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, type VIII	Osteogenesis Imperfecta	BEFREE	27383115, 27864101, 28802583		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta, type VIII	Osteogenesis Imperfecta	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	29329516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	29329516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	BEFREE	20089953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

P3H1 (prolyl 3-hydroxylase 1)