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	5352
Gene name	Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
Gene symbol	PLOD2
Synonyms (NCBI Gene)	BRKS2LH2TLH
Chromosome	3
Chromosome location	3q24
Summary	The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptide

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs115199093	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs121434459	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121434460	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121434461	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs145809663	T>C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, non coding transcript variant
rs749709000	G>-,GG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs778360818	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs893004444	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057524250	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057524251	A>G	Pathogenic	Splice donor variant

112

Show/Hide all (112)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024186	hsa-miR-221-3p	Sequencing	20371350
MIRT027724	hsa-miR-98-5p	Microarray	19088304
MIRT029832	hsa-miR-26b-5p	Microarray	19088304
MIRT047089	hsa-miR-183-5p	CLASH	23622248
MIRT040384	hsa-miR-615-3p	CLASH	23622248
MIRT039306	hsa-miR-425-5p	CLASH	23622248
MIRT052752	hsa-miR-1260b	CLASH	23622248
MIRT439946	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT439946	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT029832	hsa-miR-26b-5p	Luciferase reporter assay	27310702
MIRT029832	hsa-miR-26b-5p	Luciferase reporter assay	27310702
MIRT029832	hsa-miR-26b-5p	Luciferase reporter assay	27310702
MIRT029832	hsa-miR-26b-5p	Luciferase reporter assay	27310702
MIRT1243030	hsa-miR-1197	CLIP-seq
MIRT1243031	hsa-miR-4474-5p	CLIP-seq
MIRT1243032	hsa-miR-4477b	CLIP-seq
MIRT1243033	hsa-miR-548ac	CLIP-seq
MIRT1243034	hsa-miR-548d-3p	CLIP-seq
MIRT1243035	hsa-miR-548z	CLIP-seq
MIRT1243036	hsa-miR-649	CLIP-seq
MIRT1243037	hsa-miR-3685	CLIP-seq
MIRT1243038	hsa-miR-384	CLIP-seq
MIRT1243039	hsa-miR-4720-3p	CLIP-seq
MIRT1243040	hsa-miR-4804-3p	CLIP-seq
MIRT1243041	hsa-miR-889	CLIP-seq
MIRT1552359	hsa-miR-1297	CLIP-seq
MIRT1552360	hsa-miR-1305	CLIP-seq
MIRT1552361	hsa-miR-2278	CLIP-seq
MIRT1552362	hsa-miR-24	CLIP-seq
MIRT1552363	hsa-miR-26a	CLIP-seq
MIRT1552364	hsa-miR-26b	CLIP-seq
MIRT1552365	hsa-miR-3065-5p	CLIP-seq
MIRT1552366	hsa-miR-3136-3p	CLIP-seq
MIRT1552367	hsa-miR-3145-3p	CLIP-seq
MIRT1552368	hsa-miR-3166	CLIP-seq
MIRT1552369	hsa-miR-323-3p	CLIP-seq
MIRT1552370	hsa-miR-328	CLIP-seq
MIRT1552371	hsa-miR-338-5p	CLIP-seq
MIRT1552372	hsa-miR-3609	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1552375	hsa-miR-382	CLIP-seq
MIRT1552376	hsa-miR-4436b-5p	CLIP-seq
MIRT1552377	hsa-miR-4465	CLIP-seq
MIRT1552378	hsa-miR-4468	CLIP-seq
MIRT1243032	hsa-miR-4477b	CLIP-seq
MIRT1552379	hsa-miR-4670-3p	CLIP-seq
MIRT1552380	hsa-miR-4714-3p	CLIP-seq
MIRT1243039	hsa-miR-4720-3p	CLIP-seq
MIRT1243040	hsa-miR-4804-3p	CLIP-seq
MIRT1552381	hsa-miR-498	CLIP-seq
MIRT1552382	hsa-miR-520g	CLIP-seq
MIRT1552383	hsa-miR-520h	CLIP-seq
MIRT1243033	hsa-miR-548ac	CLIP-seq
MIRT1552384	hsa-miR-548ae	CLIP-seq
MIRT1552385	hsa-miR-548ah	CLIP-seq
MIRT1552386	hsa-miR-548aj	CLIP-seq
MIRT1552387	hsa-miR-548am	CLIP-seq
MIRT1243034	hsa-miR-548d-3p	CLIP-seq
MIRT1552388	hsa-miR-548x	CLIP-seq
MIRT1243035	hsa-miR-548z	CLIP-seq
MIRT1243041	hsa-miR-889	CLIP-seq
MIRT2071826	hsa-miR-3163	CLIP-seq
MIRT2071827	hsa-miR-3978	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1552359	hsa-miR-1297	CLIP-seq
MIRT1552360	hsa-miR-1305	CLIP-seq
MIRT1552363	hsa-miR-26a	CLIP-seq
MIRT1552364	hsa-miR-26b	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1552377	hsa-miR-4465	CLIP-seq
MIRT1552381	hsa-miR-498	CLIP-seq
MIRT2595762	hsa-miR-200b	CLIP-seq
MIRT2595763	hsa-miR-200c	CLIP-seq
MIRT2595764	hsa-miR-3117-5p	CLIP-seq
MIRT2595765	hsa-miR-3161	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1243037	hsa-miR-3685	CLIP-seq
MIRT2595766	hsa-miR-3688-3p	CLIP-seq
MIRT2595767	hsa-miR-369-3p	CLIP-seq
MIRT1243038	hsa-miR-384	CLIP-seq
MIRT2071827	hsa-miR-3978	CLIP-seq
MIRT2595768	hsa-miR-429	CLIP-seq
MIRT1552376	hsa-miR-4436b-5p	CLIP-seq
MIRT2595769	hsa-miR-4694-3p	CLIP-seq
MIRT2595770	hsa-miR-4699-5p	CLIP-seq
MIRT1243039	hsa-miR-4720-3p	CLIP-seq
MIRT1243040	hsa-miR-4804-3p	CLIP-seq
MIRT2595771	hsa-miR-7	CLIP-seq
MIRT1243041	hsa-miR-889	CLIP-seq
MIRT2595762	hsa-miR-200b	CLIP-seq
MIRT2595763	hsa-miR-200c	CLIP-seq
MIRT2595764	hsa-miR-3117-5p	CLIP-seq
MIRT2595765	hsa-miR-3161	CLIP-seq
MIRT1552373	hsa-miR-3653	CLIP-seq
MIRT1552374	hsa-miR-3658	CLIP-seq
MIRT1243037	hsa-miR-3685	CLIP-seq
MIRT2595766	hsa-miR-3688-3p	CLIP-seq
MIRT2595767	hsa-miR-369-3p	CLIP-seq
MIRT1243038	hsa-miR-384	CLIP-seq
MIRT2071827	hsa-miR-3978	CLIP-seq
MIRT2595768	hsa-miR-429	CLIP-seq
MIRT1552376	hsa-miR-4436b-5p	CLIP-seq
MIRT2595769	hsa-miR-4694-3p	CLIP-seq
MIRT2595770	hsa-miR-4699-5p	CLIP-seq
MIRT1243039	hsa-miR-4720-3p	CLIP-seq
MIRT1243040	hsa-miR-4804-3p	CLIP-seq
MIRT2595771	hsa-miR-7	CLIP-seq
MIRT1243041	hsa-miR-889	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEP	15174142
GO:0005506	Function	Iron ion binding	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	9054364
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IBA
GO:0006493	Process	Protein O-linked glycosylation	IDA	10934207
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IBA
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IDA	10934207
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IEA
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	ISS	9582318
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	TAS	9054364
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0017185	Process	Peptidyl-lysine hydroxylation	IDA	10934207
GO:0017185	Process	Peptidyl-lysine hydroxylation	ISS	9582318
GO:0030199	Process	Collagen fibril organization	IBA
GO:0030867	Component	Rough endoplasmic reticulum membrane	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0033823	Function	Procollagen glucosyltransferase activity	IDA	10934207
GO:0036211	Process	Protein modification process	TAS	9054364
GO:0046872	Function	Metal ion binding	IEA
GO:0046947	Process	Hydroxylysine biosynthetic process	IDA	10934207
GO:0051213	Function	Dioxygenase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
601865	9082	ENSG00000152952

O00469

Protein name

Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (EC 1.14.11.4) (Lysyl hydroxylase 2) (LH2)

Protein function

Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. {ECO:0000250|UniProtKB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03171	2OG-FeII_Oxy	645 → 737	2OG-Fe(II) oxygenase superfamily	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in pancreas and muscle. Isoform 1 and isoform 2 are expressed in the majority of the examined cell types. Isoform 2 is specifically expressed in skin, lung, dura and aorta. {ECO:0000269|PubMed:10372558}.

Sequence

MGGCTVKPQLLLLALVLHPWNPCLGADSEKPSSIPTDKLLVITVATKESDGFHRFMQSAK
YFNYTVKVLGQGEEWRGGDGINSIGGGQKVRLMKEVMEHYADQDDLVVMFTECFDVIFAG
GPEEVLKKFQKANHKVVFAADGILWPDKRLADKYPVVHIGKRYLNSGGFIGYAPYVNRIV
QQWNLQDNDDDQLFYTKVYIDPLKREAINITLDHKCKIFQTLNGAVDEVVLKFENGKARA
KNTFYETLPVAINGNGPTKILLNYFGNYVPNSWTQDNGCTLCEFDTVDLSAVDVHPNVSI
GVFIEQPTPFLPRFLDILLTLDYPKEALKLFIHNKEVYHEKDIKVFFDKAKHEIKTIKIV
GPEENLSQAEARNMGMDFCRQDEKCDYYFSVDADVVLTNPRTLKILIEQNRKIIAPLVTR
HGKLWSNFWGALSPDGYYARSEDYVDIVQGNRVGVWNVPYMANVYLIKGKTLRSEMNERN
YFVRDKLDPDMALCRNAREMGVFMYISNRHEFGRLLSTANYNTSHYNNDLWQIFENPVDW
KEKYINRDYSKIFTENIVEQPCPDVFWFPIFSEKACDELVEEMEHYGKWSGGKHHDSRIS
GGYENVPTDDIHMKQVDLENVWLHFIREFIAPVTLKVFAGYYTKGFALLNFVVKYSPERQ
RSLRPHHDASTFTINIALNNVGEDFQGGGCKFLRYNCSIESPRKGWSFMHPGRLTHLHEG
LPVKNGTRYIAVSFIDP

Sequence length

737

Interactions

View interactions

	KEGG		Reactome
	Lysine degradation Metabolic pathways		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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bruck syndrome 2	Pathogenic; Likely pathogenic	rs2108157679, rs1436930576, rs1353563172, rs2108057452, rs121434459, rs121434460, rs121434461, rs778254905, rs1248510301, rs2473220795, rs780770356, rs749709000, rs1937608887	RCV001784855 RCV001782659 RCV005025531 RCV002267184 RCV000008080 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs1353563172, rs749709000	RCV002266071 RCV004799755	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (33)

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.
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BOWED LONG BONES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUCK SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BURULI ULCER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT SOFT PALATE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CAMPTODACTYLY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPLASIA OF FEMUR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD, GWAS catalog CTD, 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
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLOD2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (117)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29072684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	30105440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27310702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	CTD_human_DG	15865105		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	23378577, 30563531, 31005809, 31170987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33257795, 37155842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	24285264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruck syndrome	Bruck Syndrome	BEFREE	15523624, 20839288, 22085994, 22689593, 22949511, 25238597, 28378777, 29177700, 29178448, 31472299, 9927692		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bruck syndrome	Bruck Syndrome	ORPHANET_DG	15523624, 22689593		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bruck syndrome	Bruck Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bruck syndrome	Bruck Syndrome	GENOMICS_ENGLAND_DG	22689593		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bruck syndrome 1	Bruck Syndrome	ORPHANET_DG	15523624, 22689593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruck syndrome 1	Bruck syndrome	Pubtator	25238597, 27298363, 29178448, 31472299, 39769143, 9927692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruck syndrome 1	Bruck syndrome	Pubtator	31472299	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruck syndrome 2	Bruck Syndrome	UNIPROT_DG	12881513, 15523624		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 2	Bruck Syndrome	ORPHANET_DG	15523624, 22689593		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 2	Bruck Syndrome	GENOMICS_ENGLAND_DG	15523624, 22689593		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 2	Bruck syndrome	Pubtator	20839288, 29178448, 31472299	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 2	Bruck syndrome	Pubtator	31472299	Stimulate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 2	Bruck Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bruck syndrome 2	Bruck Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Camptodactyly 1	Camptodactyly	Pubtator	29178448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21338529, 34258263, 36071678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35560794, 38052560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27310702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	31455288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27803159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32958051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26983694, 31446433, 32986937, 33287763, 33836688, 34388114, 36901940, 37328520, 38008826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33887877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28507454		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	28507454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	29178448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Soft Palate	Cleft Soft Palate	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31742425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29453334, 36071678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37227305	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common ventricle	Complete Atrioventricular Canal Defect	BEFREE	30905411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	28279775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital contracture	Congenital contracture	BEFREE	20839288, 22085994, 22689593, 29178448, 31472299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	22689593, 28378777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26983694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24574225, 29898378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	29738359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	LHGDN	15589118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29146390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	37227305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36042592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	20604837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	26396155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16254489, 35682709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28423580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28423580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28410212, 28423580		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28410212	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23423382, 37452322, 40500522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28410212, 37146419, 38008826	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33287763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	32432748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	31455288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22098155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	26396155		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	22098155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34944486, 36042592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	CTD_human_DG	15865105		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23378577, 30563531, 31005809, 31170987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29146390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	31455288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27803159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26805763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29603227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27310702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27803159, 28415047, 28507454, 29072684, 30589612, 30905411, 31455288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28507454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	BEFREE	30488123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22098155, 23378577, 27803159, 28423580, 30777851, 30786814, 31170987, 31446858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29072684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	27734147		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis Imperfecta	BEFREE	15523624, 22689593, 29178448, 30905411, 31472299		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	21829228, 29178448	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis Imperfecta	Osteogenesis Imperfecta	GENOMICS_ENGLAND_DG	22689593		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type III (disorder)	Osteogenesis Imperfecta	BEFREE	22085994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37227305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26805763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	29178448, 31472299		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26983694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	23906982, 30777851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	20131247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	37246768	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28861165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33887877, 34257533, 34565301, 34944486, 37452322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29603227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34281542, 35789544, 37227305	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	12881513, 16139999, 20131247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	37328520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27310702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	21338529, 32258155, 34116656, 34258263, 36281082	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine Diseases	BEFREE	28179197		★★★★★ ★☆☆☆☆ Found in Text Mining only

PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)