PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)

Gene

• Entrez ID: 5351
• Gene name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
• Gene symbol: PLOD1
• Synonyms (NCBI Gene): EDS6, EDSKCL1, LH, LH1, LLH, PLOD
• Chromosome: 1
• Chromosome location: 1p36.22
• Summary: Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysy

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112460511	G>C,T	Likely-pathogenic	Splice acceptor variant
rs121913550	C>T	Pathogenic	Stop gained, coding sequence variant
rs121913551	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121913552	C>G	Pathogenic	Stop gained, coding sequence variant
rs121913553	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121913554	C>T	Pathogenic	Stop gained, coding sequence variant
rs138490756	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Missense variant, coding sequence variant
rs138698098	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs140758113	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs142710681	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149425237	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs377406897	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs557317492	C>T	Uncertain-significance, likely-benign, likely-pathogenic	Coding sequence variant, missense variant
rs565513365	A>C,G	Pathogenic	Splice acceptor variant
rs745409628	ACCGCAGGCTGGAGACCAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs763409574	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs771186398	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs797044446	GAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs797044447	A>-	Pathogenic	Splice acceptor variant
rs797044448	G>A	Pathogenic	Splice donor variant
rs886042976	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043926	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043927	T>C	Pathogenic	Splice donor variant
rs1057518879	G>A	Pathogenic	Stop gained, coding sequence variant
rs1224538282	C>T	Pathogenic	Stop gained, coding sequence variant
rs1389548210	G>A,C	Pathogenic	Splice donor variant
rs1401035675	A>G	Likely-pathogenic	Splice acceptor variant
rs1433428588	C>T	Pathogenic	Coding sequence variant, stop gained
rs1439043436	C>T	Pathogenic	Coding sequence variant, stop gained
rs1471557079	->CAGCGGCTCCTGC	Pathogenic	Coding sequence variant, frameshift variant
rs1553134578	C>T	Pathogenic	Coding sequence variant, stop gained
rs1553137486	A>G	Likely-pathogenic	Splice acceptor variant
rs1557500194	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569713366	C>T	Pathogenic	Stop gained, coding sequence variant
rs1569724692	->C	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022239	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024504	hsa-miR-215-5p	Microarray	19074876
MIRT026202	hsa-miR-192-5p	Microarray	19074876
MIRT052618	hsa-let-7a-5p	CLASH	23622248
MIRT046301	hsa-miR-23b-3p	CLASH	23622248
MIRT045528	hsa-miR-149-5p	CLASH	23622248
MIRT041701	hsa-miR-484	CLASH	23622248
MIRT1242998	hsa-miR-1229	CLIP-seq
MIRT1242999	hsa-miR-1257	CLIP-seq
MIRT1243000	hsa-miR-1283	CLIP-seq
MIRT1243001	hsa-miR-1289	CLIP-seq
MIRT1243002	hsa-miR-1324	CLIP-seq
MIRT1243003	hsa-miR-135a	CLIP-seq
MIRT1243004	hsa-miR-135b	CLIP-seq
MIRT1243005	hsa-miR-150	CLIP-seq
MIRT1243006	hsa-miR-1912	CLIP-seq
MIRT1243007	hsa-miR-2117	CLIP-seq
MIRT1243008	hsa-miR-3120-5p	CLIP-seq
MIRT1243009	hsa-miR-3182	CLIP-seq
MIRT1243010	hsa-miR-3198	CLIP-seq
MIRT1243011	hsa-miR-326	CLIP-seq
MIRT1243012	hsa-miR-330-3p	CLIP-seq
MIRT1243013	hsa-miR-330-5p	CLIP-seq
MIRT1243014	hsa-miR-3609	CLIP-seq
MIRT1243015	hsa-miR-3925-3p	CLIP-seq
MIRT1243016	hsa-miR-4294	CLIP-seq
MIRT1243017	hsa-miR-4309	CLIP-seq
MIRT1243018	hsa-miR-4652-5p	CLIP-seq
MIRT1243019	hsa-miR-4685-5p	CLIP-seq
MIRT1243020	hsa-miR-4713-5p	CLIP-seq
MIRT1243021	hsa-miR-516b	CLIP-seq
MIRT1243022	hsa-miR-520d-5p	CLIP-seq
MIRT1243023	hsa-miR-524-5p	CLIP-seq
MIRT1243024	hsa-miR-532-3p	CLIP-seq
MIRT1243025	hsa-miR-548ah	CLIP-seq
MIRT1243026	hsa-miR-548n	CLIP-seq
MIRT1243027	hsa-miR-548t	CLIP-seq
MIRT1243028	hsa-miR-626	CLIP-seq
MIRT1243029	hsa-miR-766	CLIP-seq
MIRT2071807	hsa-miR-3612	CLIP-seq
MIRT2071808	hsa-miR-3652	CLIP-seq
MIRT2071809	hsa-miR-378	CLIP-seq
MIRT2071810	hsa-miR-378b	CLIP-seq
MIRT2071811	hsa-miR-378c	CLIP-seq
MIRT2071812	hsa-miR-378d	CLIP-seq
MIRT2071813	hsa-miR-378e	CLIP-seq
MIRT2071814	hsa-miR-378f	CLIP-seq
MIRT2071815	hsa-miR-378h	CLIP-seq
MIRT2071816	hsa-miR-378i	CLIP-seq
MIRT2071817	hsa-miR-422a	CLIP-seq
MIRT2071818	hsa-miR-4292	CLIP-seq
MIRT2071819	hsa-miR-4308	CLIP-seq
MIRT2071820	hsa-miR-4430	CLIP-seq
MIRT2071821	hsa-miR-4443	CLIP-seq
MIRT2071822	hsa-miR-4802-5p	CLIP-seq
MIRT2071823	hsa-miR-483-3p	CLIP-seq
MIRT2071824	hsa-miR-650	CLIP-seq
MIRT2071825	hsa-miR-668	CLIP-seq
MIRT2298953	hsa-miR-198	CLIP-seq
MIRT2298954	hsa-miR-3591-3p	CLIP-seq
MIRT1243015	hsa-miR-3925-3p	CLIP-seq
MIRT1243019	hsa-miR-4685-5p	CLIP-seq
MIRT1243029	hsa-miR-766	CLIP-seq
MIRT1242998	hsa-miR-1229	CLIP-seq
MIRT1243009	hsa-miR-3182	CLIP-seq
MIRT2595760	hsa-miR-4286	CLIP-seq
MIRT2595761	hsa-miR-4742-5p	CLIP-seq
MIRT2071823	hsa-miR-483-3p	CLIP-seq
MIRT2071825	hsa-miR-668	CLIP-seq
MIRT1242998	hsa-miR-1229	CLIP-seq
MIRT1243001	hsa-miR-1289	CLIP-seq
MIRT1243003	hsa-miR-135a	CLIP-seq
MIRT1243004	hsa-miR-135b	CLIP-seq
MIRT1243005	hsa-miR-150	CLIP-seq
MIRT2298953	hsa-miR-198	CLIP-seq
MIRT1243007	hsa-miR-2117	CLIP-seq
MIRT1243008	hsa-miR-3120-5p	CLIP-seq
MIRT2688136	hsa-miR-3176	CLIP-seq
MIRT1243009	hsa-miR-3182	CLIP-seq
MIRT2688137	hsa-miR-3187-3p	CLIP-seq
MIRT1243010	hsa-miR-3198	CLIP-seq
MIRT1243011	hsa-miR-326	CLIP-seq
MIRT1243013	hsa-miR-330-5p	CLIP-seq
MIRT2298954	hsa-miR-3591-3p	CLIP-seq
MIRT2688138	hsa-miR-3922-3p	CLIP-seq
MIRT2595760	hsa-miR-4286	CLIP-seq
MIRT1243016	hsa-miR-4294	CLIP-seq
MIRT1243017	hsa-miR-4309	CLIP-seq
MIRT2688139	hsa-miR-4492	CLIP-seq
MIRT2688140	hsa-miR-4498	CLIP-seq
MIRT2688141	hsa-miR-4505	CLIP-seq
MIRT2688142	hsa-miR-4529-5p	CLIP-seq
MIRT1243019	hsa-miR-4685-5p	CLIP-seq
MIRT1243020	hsa-miR-4713-5p	CLIP-seq
MIRT2595761	hsa-miR-4742-5p	CLIP-seq
MIRT2071823	hsa-miR-483-3p	CLIP-seq
MIRT1243021	hsa-miR-516b	CLIP-seq
MIRT1243024	hsa-miR-532-3p	CLIP-seq
MIRT2071825	hsa-miR-668	CLIP-seq
MIRT2688143	hsa-miR-762	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PITX2	Unknown	21837767

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEP	15174142
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	26496610, 28514442, 33961781
GO:0005615	Component	Extracellular space	IBA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
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	9724729, 10934207
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IEA
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IMP	8621606
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	ISS	9582318
GO:0008544	Process	Epidermis development	IMP	8449506
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	8621606, 9724729, 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:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1902494	Component	Catalytic complex	IEA

Other IDs

• MIM: 153454
• HGNC: 9081
• e!Ensembl: ENSG00000083444

Protein

• UniProt ID: Q02809
• Protein name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (EC 1.14.11.4) (Lysyl hydroxylase 1) (LH1)
• Protein function: Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03171	2OG-FeII_Oxy	637 → 727	2OG-Fe(II) oxygenase superfamily	Domain

• Sequence:

  MRPLLLLALLGWLLLAEAKGDAKPEDNLLVLTVATKETEGFRRFKRSAQFFNYKIQALGL
  GEDWNVEKGTSAGGGQKVRLLKKALEKHADKEDLVILFADSYDVLFASGPRELLKKFRQA
  RSQVVFSAEELIYPDRRLETKYPVVSDGKRFLGSGGFIGYAPNLSKLVAEWEGQDSDSDQ
  LFYTKIFLDPEKREQINITLDHRCRIFQNLDGALDEVVLKFEMGHVRARNLAYDTLPVLI
  HGNGPTKLQLNYLGNYIPRFWTFETGCTVCDEGLRSLKGIGDEALPTVLVGVFIEQPTPF
  VSLFFQRLLRLHYPQKHMRLFIHNHEQHHKAQVEEFLAQHGSEYQSVKLVGPEVRMANAD
  ARNMGADLCRQDRSCTYYFSVDADVALTEPNSLRLLIQQNKNVIAPLMTRHGRLWSNFWG
  ALSADGYYARSEDYVDIVQGRRVGVWNVPYISNIYLIKGSALRGELQSSDLFHHSKLDPD
  MAFCANIRQQDVFMFLTNRHTLGHLLSLDSYRTTHLHNDLWEVFSNPEDWKEKYIHQNYT
  KALAGKLVETPCPDVYWFPIFTEVACDELVEEMEHFGQWSLGNNKDNRIQGGYENVPTID
  IHMNQIGFEREWHKFLLEYIAPMTEKLYPGYYTRAQFDLAFVVRYKPDEQPSLMPHHDAS
  TFTINIALNRVGVDYEGGGCRFLRYNCSIRAPRKGWTLMHPGRLTHYHEGLPTTRGTRYI
  AVSFVDP

• Sequence length: 727

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

Collagen biosynthesis and modifying enzymes

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ehlers-Danlos syndrome	Pathogenic; Likely pathogenic	rs2100758252, rs2100754171, rs121913550, rs121913552, rs1439043436	RCV002278046 RCV002278053 RCV004798730 RCV002276550 RCV002279546	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome, kyphoscoliotic type 1	Pathogenic; Likely pathogenic	rs1189324317, rs1645691337, rs746930362, rs2100764790, rs2100760068, rs2100756997, rs2100743480, rs1440249864, rs1434924385, rs1375808651, rs199730384, rs1362343873, rs776398739, rs571824470, rs2522862314, rs184406592, rs2522875121, rs2522834464, rs745409628, rs565513365, rs769451292, rs886042976, rs886043926, rs886043927, rs2522849935, rs2522862242, rs1301268055, rs2522850390, rs1389548210, rs2522799594, rs1645686564, rs2522804871, rs2100743498, rs143294623, rs2522849913, rs121913550, rs121913551, rs797044446, rs797044447, rs121913552, rs797044448, rs121913553, rs121913554, rs2522861951, rs2522822079, rs1553137486, rs2522852329, rs2522828917, rs2522875116, rs2522799648, rs766724096, rs2522852699, rs2522814526, rs369038766, rs2522831501, rs779676937, rs2522874604, rs2522805333, rs1433428588, rs1401035675, rs1224538282, rs1557500194, rs1569713366, rs1439043436, rs112460511, rs1569724692, rs1645855563	RCV001386992 RCV001382370 RCV001979458 RCV001966442 RCV001960636 RCV002007501 RCV001946668 RCV001880899 RCV001899020 RCV002009040 RCV003514548 RCV003104293 RCV002780144 RCV002903718 RCV003005478 RCV003034261 RCV003046167 RCV003226125 RCV001387123 RCV001002397 RCV003236406 RCV000819031 RCV003629111 RCV001038850 RCV003330284 RCV003515423 RCV003514763 RCV003515652 RCV003516132 RCV003516284 RCV003516285 RCV003516308 RCV003514976 RCV003515777 RCV003516019 RCV000015438 RCV000015442 RCV000015443 RCV000015444 RCV000015447 RCV000015448 RCV000015449 RCV000015440 RCV003629385 RCV003630260 RCV003630200 RCV003630447 RCV003630541 RCV003630704 RCV003630779 RCV003630829 RCV003630854 RCV003630796 RCV003628622 RCV003628628 RCV003628843 RCV003628992 RCV003811599 RCV004577205 RCV001865680 RCV001853637 RCV003767816 RCV001855284 RCV000680071 RCV000680070 RCV000803703 RCV000816388 RCV000800852 RCV000986239 RCV001045967	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs1440249864, rs199730384, rs571824470, rs2522874923, rs745409628, rs565513365, rs121913552, rs1433428588, rs1401035675	RCV004651770 RCV005704894 RCV004661498 RCV003176797 RCV002311073 RCV002401967 RCV002313712 RCV002315149 RCV002315161	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PLOD1-related disorder	Likely pathogenic; Pathogenic	rs2522850390, rs761014653, rs121913552	RCV003404199 RCV003399575 RCV003904842	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BYZANTHINE ARCH PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	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
CONGENITAL CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OMPHALOCELE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEEP VEIN THROMBOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME TYPE 6	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	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
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	BEFREE	28757364		★☆☆☆☆ Found in Text Mining only
Aneurysm, Dissecting	Aortic Aneurysm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	11157981		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	23525417		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	23525417	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31199049		★☆☆☆☆ Found in Text Mining only
Bone Fragility with Contractures Arterial Rupture and Deafness	Bone fragility with contractures, arterial rupture, and deafness	Pubtator	21699693	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone Fragility with Contractures Arterial Rupture and Deafness	Bone fragility with contractures, arterial rupture, and deafness	Pubtator	25277362, 33129265	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	9714013		★☆☆☆☆ Found in Text Mining only
Bruck syndrome 1	Bruck syndrome	Pubtator	30721533	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of bladder	Bladder carcinoma	BEFREE	31199049		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31446433, 33287763	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29723071, 31452782		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	BEFREE	28757364		★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	15979919		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31446433		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	9714013		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	11157981, 15979919, 21699693, 25266621, 29982180		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ehlers-Danlos syndrome kyphoscoliotic type	Kyphoscoliotic Ehlers-Danlos Syndrome	BEFREE	11157981, 28757364		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome kyphoscoliotic type	Kyphoscoliotic Ehlers-Danlos Syndrome	CTD_human_DG	15666309		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome type 6	Ehlers-Danlos Syndrome	BEFREE	10329027, 10686424, 10874315, 11001813, 11286629, 15523625, 25266621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 6	Ehlers-Danlos Syndrome	CLINVAR_DG	10329027, 10874315, 9220536		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 6	Ehlers-Danlos Syndrome	UNIPROT_DG	10686424, 15666309, 15854030, 15979919, 8163671, 9617436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 6	Ehlers-Danlos Syndrome	CTD_human_DG	15666309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 6	Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	15666309, 25277362, 8163671, 8449506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome type 6	Ehlers-Danlos Syndrome	ORPHANET_DG	15979919		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal carcinoma	Gastrointestinal carcinoma	BEFREE	29723071		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	32163230	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	39809184	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor And Sensory Neuropathy VI	Hereditary motor and sensory neuropathies	Pubtator	21699693, 28667723	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	24006081		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30257451	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30481795		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Neoplasms	Kidney neoplasm	Pubtator	33287763	Associate	★☆☆☆☆ Found in Text Mining only
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	Kyphoscoliotic Ehlers-Danlos Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22098155		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	29723071		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31199049		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29723071, 31199049		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29723071		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya Disease	Moyamoya Disease	GWASCAT_DG	29273593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	GWASCAT_DG	29273593		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28617417		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopia	Myopia	Pubtator	21527992, 32174067	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31446433		★☆☆☆☆ Found in Text Mining only
Nevo syndrome (disorder)	Nevo Syndrome	CTD_human_DG	15666309		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33134376, 34455762	Associate	★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Progressive congenital scoliosis	Congenital Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31940282	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	20212451	Associate	★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	BEFREE	11157981		★☆☆☆☆ Found in Text Mining only
Rupture of artery	Rupture Of Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	35627171	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	BEFREE	28757364		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	21527992		★☆☆☆☆ Found in Text Mining only
Spontaneous rupture of the globe	Globe Rupture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28861165		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34304093, 34455762	Associate	★☆☆☆☆ Found in Text Mining only
Subcutaneous hemorrhage	Subcutaneous hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracolumbar scoliosis	Thoracolumbar scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31199049, 34455762	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34400365	Associate	★☆☆☆☆ Found in Text Mining only