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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84695
Gene name	Lysyl oxidase like 3
Gene symbol	LOXL3
Synonyms (NCBI Gene)	LOXLMYP28
Chromosome	2
Chromosome location	2p13.1
Summary	This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and

174

Show/Hide all (174)

miRTarBase ID	miRNA	Experiments
MIRT1115386	hsa-miR-2113	CLIP-seq
MIRT1115387	hsa-miR-2467-3p	CLIP-seq
MIRT1115388	hsa-miR-323-5p	CLIP-seq
MIRT1115389	hsa-miR-34a	CLIP-seq
MIRT1115390	hsa-miR-34c-5p	CLIP-seq
MIRT1115391	hsa-miR-3616-3p	CLIP-seq
MIRT1115392	hsa-miR-3678-3p	CLIP-seq
MIRT1115393	hsa-miR-4265	CLIP-seq
MIRT1115394	hsa-miR-4296	CLIP-seq
MIRT1115395	hsa-miR-4322	CLIP-seq
MIRT1115396	hsa-miR-4417	CLIP-seq
MIRT1115397	hsa-miR-4436b-3p	CLIP-seq
MIRT1115398	hsa-miR-449a	CLIP-seq
MIRT1115399	hsa-miR-449b	CLIP-seq
MIRT1115400	hsa-miR-876-3p	CLIP-seq
MIRT2262964	hsa-miR-320a	CLIP-seq
MIRT2262965	hsa-miR-320b	CLIP-seq
MIRT2262966	hsa-miR-320c	CLIP-seq
MIRT2262967	hsa-miR-320d	CLIP-seq
MIRT2262968	hsa-miR-361-3p	CLIP-seq
MIRT2262969	hsa-miR-3679-3p	CLIP-seq
MIRT2262970	hsa-miR-4429	CLIP-seq
MIRT2262971	hsa-miR-4446-5p	CLIP-seq
MIRT2438380	hsa-let-7a	CLIP-seq
MIRT2438381	hsa-let-7b	CLIP-seq
MIRT2438382	hsa-let-7c	CLIP-seq
MIRT2438383	hsa-let-7d	CLIP-seq
MIRT2438384	hsa-let-7e	CLIP-seq
MIRT2438385	hsa-let-7f	CLIP-seq
MIRT2438386	hsa-let-7g	CLIP-seq
MIRT2438387	hsa-let-7i	CLIP-seq
MIRT2438388	hsa-miR-1200	CLIP-seq
MIRT2438389	hsa-miR-202	CLIP-seq
MIRT2438390	hsa-miR-4324	CLIP-seq
MIRT2438391	hsa-miR-4458	CLIP-seq
MIRT2438392	hsa-miR-4500	CLIP-seq
MIRT2438393	hsa-miR-544b	CLIP-seq
MIRT2438394	hsa-miR-578	CLIP-seq
MIRT2438395	hsa-miR-629	CLIP-seq
MIRT2438396	hsa-miR-98	CLIP-seq
MIRT2453202	hsa-miR-1226	CLIP-seq
MIRT2453203	hsa-miR-1343	CLIP-seq
MIRT2453204	hsa-miR-1470	CLIP-seq
MIRT2453205	hsa-miR-3144-3p	CLIP-seq
MIRT2453206	hsa-miR-3163	CLIP-seq
MIRT2453207	hsa-miR-3185	CLIP-seq
MIRT2453208	hsa-miR-3646	CLIP-seq
MIRT2453209	hsa-miR-378g	CLIP-seq
MIRT2453210	hsa-miR-410	CLIP-seq
MIRT2453211	hsa-miR-4282	CLIP-seq
MIRT2453212	hsa-miR-4437	CLIP-seq
MIRT2453213	hsa-miR-4447	CLIP-seq
MIRT2453214	hsa-miR-4472	CLIP-seq
MIRT2453215	hsa-miR-4488	CLIP-seq
MIRT2453216	hsa-miR-4667-3p	CLIP-seq
MIRT2453217	hsa-miR-4674	CLIP-seq
MIRT2453218	hsa-miR-4697-5p	CLIP-seq
MIRT2453219	hsa-miR-4736	CLIP-seq
MIRT2453220	hsa-miR-486-3p	CLIP-seq
MIRT2453221	hsa-miR-634	CLIP-seq
MIRT2453222	hsa-miR-760	CLIP-seq
MIRT2453223	hsa-miR-875-5p	CLIP-seq
MIRT2438380	hsa-let-7a	CLIP-seq
MIRT2438381	hsa-let-7b	CLIP-seq
MIRT2438382	hsa-let-7c	CLIP-seq
MIRT2438383	hsa-let-7d	CLIP-seq
MIRT2438384	hsa-let-7e	CLIP-seq
MIRT2438385	hsa-let-7f	CLIP-seq
MIRT2438386	hsa-let-7g	CLIP-seq
MIRT2438387	hsa-let-7i	CLIP-seq
MIRT2438388	hsa-miR-1200	CLIP-seq
MIRT2562327	hsa-miR-1207-3p	CLIP-seq
MIRT2562328	hsa-miR-1252	CLIP-seq
MIRT2562329	hsa-miR-1273e	CLIP-seq
MIRT2562330	hsa-miR-130a	CLIP-seq
MIRT2562331	hsa-miR-130b	CLIP-seq
MIRT2453203	hsa-miR-1343	CLIP-seq
MIRT2438389	hsa-miR-202	CLIP-seq
MIRT2562332	hsa-miR-2277-3p	CLIP-seq
MIRT2562333	hsa-miR-301a	CLIP-seq
MIRT2562334	hsa-miR-301b	CLIP-seq
MIRT2453206	hsa-miR-3163	CLIP-seq
MIRT2562335	hsa-miR-3173-3p	CLIP-seq
MIRT2562336	hsa-miR-3176	CLIP-seq
MIRT2453207	hsa-miR-3185	CLIP-seq
MIRT2562337	hsa-miR-3666	CLIP-seq
MIRT2562338	hsa-miR-3692	CLIP-seq
MIRT2453209	hsa-miR-378g	CLIP-seq
MIRT2562339	hsa-miR-3922-3p	CLIP-seq
MIRT2453210	hsa-miR-410	CLIP-seq
MIRT2562340	hsa-miR-4295	CLIP-seq
MIRT2438390	hsa-miR-4324	CLIP-seq
MIRT2453212	hsa-miR-4437	CLIP-seq
MIRT2438391	hsa-miR-4458	CLIP-seq
MIRT2438392	hsa-miR-4500	CLIP-seq
MIRT2562341	hsa-miR-4502	CLIP-seq
MIRT2562342	hsa-miR-4527	CLIP-seq
MIRT2562343	hsa-miR-454	CLIP-seq
MIRT2562344	hsa-miR-4645-3p	CLIP-seq
MIRT2562345	hsa-miR-4671-3p	CLIP-seq
MIRT2453217	hsa-miR-4674	CLIP-seq
MIRT2562346	hsa-miR-4757-5p	CLIP-seq
MIRT2562347	hsa-miR-4779	CLIP-seq
MIRT2438393	hsa-miR-544b	CLIP-seq
MIRT2562348	hsa-miR-570	CLIP-seq
MIRT2438394	hsa-miR-578	CLIP-seq
MIRT2562349	hsa-miR-628-5p	CLIP-seq
MIRT2438395	hsa-miR-629	CLIP-seq
MIRT2453222	hsa-miR-760	CLIP-seq
MIRT2562350	hsa-miR-885-3p	CLIP-seq
MIRT2438396	hsa-miR-98	CLIP-seq
MIRT2438380	hsa-let-7a	CLIP-seq
MIRT2438381	hsa-let-7b	CLIP-seq
MIRT2438382	hsa-let-7c	CLIP-seq
MIRT2438383	hsa-let-7d	CLIP-seq
MIRT2438384	hsa-let-7e	CLIP-seq
MIRT2438385	hsa-let-7f	CLIP-seq
MIRT2438386	hsa-let-7g	CLIP-seq
MIRT2438387	hsa-let-7i	CLIP-seq
MIRT2438388	hsa-miR-1200	CLIP-seq
MIRT2562327	hsa-miR-1207-3p	CLIP-seq
MIRT2562328	hsa-miR-1252	CLIP-seq
MIRT2562329	hsa-miR-1273e	CLIP-seq
MIRT2562330	hsa-miR-130a	CLIP-seq
MIRT2562331	hsa-miR-130b	CLIP-seq
MIRT2453203	hsa-miR-1343	CLIP-seq
MIRT2438389	hsa-miR-202	CLIP-seq
MIRT2562332	hsa-miR-2277-3p	CLIP-seq
MIRT2562333	hsa-miR-301a	CLIP-seq
MIRT2562334	hsa-miR-301b	CLIP-seq
MIRT2453205	hsa-miR-3144-3p	CLIP-seq
MIRT2453206	hsa-miR-3163	CLIP-seq
MIRT2562335	hsa-miR-3173-3p	CLIP-seq
MIRT2562336	hsa-miR-3176	CLIP-seq
MIRT2453207	hsa-miR-3185	CLIP-seq
MIRT1115388	hsa-miR-323-5p	CLIP-seq
MIRT2453208	hsa-miR-3646	CLIP-seq
MIRT2562337	hsa-miR-3666	CLIP-seq
MIRT2562338	hsa-miR-3692	CLIP-seq
MIRT2453209	hsa-miR-378g	CLIP-seq
MIRT2562339	hsa-miR-3922-3p	CLIP-seq
MIRT2453210	hsa-miR-410	CLIP-seq
MIRT2684069	hsa-miR-4278	CLIP-seq
MIRT2453211	hsa-miR-4282	CLIP-seq
MIRT2562340	hsa-miR-4295	CLIP-seq
MIRT2438390	hsa-miR-4324	CLIP-seq
MIRT2453212	hsa-miR-4437	CLIP-seq
MIRT2453213	hsa-miR-4447	CLIP-seq
MIRT2438391	hsa-miR-4458	CLIP-seq
MIRT2453214	hsa-miR-4472	CLIP-seq
MIRT2438392	hsa-miR-4500	CLIP-seq
MIRT2562341	hsa-miR-4502	CLIP-seq
MIRT2562342	hsa-miR-4527	CLIP-seq
MIRT2562343	hsa-miR-454	CLIP-seq
MIRT2684070	hsa-miR-4640-5p	CLIP-seq
MIRT2562344	hsa-miR-4645-3p	CLIP-seq
MIRT2562345	hsa-miR-4671-3p	CLIP-seq
MIRT2453217	hsa-miR-4674	CLIP-seq
MIRT2684071	hsa-miR-4688	CLIP-seq
MIRT2684072	hsa-miR-4722-3p	CLIP-seq
MIRT2684073	hsa-miR-4726-5p	CLIP-seq
MIRT2562346	hsa-miR-4757-5p	CLIP-seq
MIRT2684074	hsa-miR-4769-3p	CLIP-seq
MIRT2562347	hsa-miR-4779	CLIP-seq
MIRT2438393	hsa-miR-544b	CLIP-seq
MIRT2562348	hsa-miR-570	CLIP-seq
MIRT2438394	hsa-miR-578	CLIP-seq
MIRT2562349	hsa-miR-628-5p	CLIP-seq
MIRT2438395	hsa-miR-629	CLIP-seq
MIRT2453222	hsa-miR-760	CLIP-seq
MIRT2453223	hsa-miR-875-5p	CLIP-seq
MIRT1115400	hsa-miR-876-3p	CLIP-seq
MIRT2562350	hsa-miR-885-3p	CLIP-seq
MIRT2438396	hsa-miR-98	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	16096638
GO:0001968	Function	Fibronectin binding	IEA
GO:0001968	Function	Fibronectin binding	ISS
GO:0004720	Function	Protein-lysine 6-oxidase activity	IBA
GO:0004720	Function	Protein-lysine 6-oxidase activity	IDA	28065600
GO:0004720	Function	Protein-lysine 6-oxidase activity	IEA
GO:0004720	Function	Protein-lysine 6-oxidase activity	NAS	11284725
GO:0005507	Function	Copper ion binding	IEA
GO:0005507	Function	Copper ion binding	NAS	11284725
GO:0005515	Function	Protein binding	IPI	16096638, 28065600, 29758265
GO:0005576	Component	Extracellular region	IDA	11284725
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005634	Component	Nucleus	IDA	28065600
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16096638
GO:0005737	Component	Cytoplasm	IDA	28065600
GO:0005737	Component	Cytoplasm	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	8272873
GO:0009888	Process	Tissue development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016641	Function	Oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor	IEA
GO:0018057	Process	Peptidyl-lysine oxidation	IDA	28065600
GO:0021510	Process	Spinal cord development	IEA
GO:0021510	Process	Spinal cord development	ISS
GO:0030199	Process	Collagen fibril organization	IBA
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	16096638
GO:0046872	Function	Metal ion binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060021	Process	Roof of mouth development	ISS
GO:0061053	Process	Somite development	IEA
GO:0061053	Process	Somite development	ISS
GO:0072540	Process	T-helper 17 cell lineage commitment	TAS	27893700
GO:1905590	Process	Fibronectin fibril organization	IEA
GO:1905590	Process	Fibronectin fibril organization	ISS
GO:2000329	Process	Negative regulation of T-helper 17 cell lineage commitment	IDA	28065600
GO:2000329	Process	Negative regulation of T-helper 17 cell lineage commitment	IEA
GO:2000329	Process	Negative regulation of T-helper 17 cell lineage commitment	ISS
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	IEA
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	ISS

MIM	HGNC	e!Ensembl
607163	13869	ENSG00000115318

P58215

Protein name

Lysyl oxidase homolog 3 (EC 1.4.3.-) (EC 1.4.3.13) (Lysyl oxidase-like protein 3)

Protein function

Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins (PubMed:17018530, PubMed:28065600). Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00530	SRCR	50 → 145	Scavenger receptor cysteine-rich domain	Domain
PF00530	SRCR	181 → 282	Scavenger receptor cysteine-rich domain	Domain
PF00530	SRCR	310 → 407	Scavenger receptor cysteine-rich domain	Domain
PF00530	SRCR	420 → 525	Scavenger receptor cysteine-rich domain	Domain
PF01186	Lysyl_oxidase	529 → 729	Lysyl oxidase	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1: Predominantly detected in the heart, placenta, lung, and small intestine (PubMed:17018530). Isoform 2: Highly detected in the kidney, pancreas, spleen, and thymus, and is absent in lung (PubMed:17018530). In eye, present in

Sequence

MRPVSVWQWSPWGLLLCLLCSSCLGSPSPSTGPEKKAGSQGLRFRLAGFPRKPYEGRVEI
QRAGEWGTICDDDFTLQAAHILCRELGFTEATGWTHSAKYGPGTGRIWLDNLSCSGTEQS
VTECASRGWGNSDCTHDEDAGVICKDQRLPGFSDSNVIEVEHHLQVEEVRIRPAVGWGRR
PLPVTEGLVEVRLPDGWSQVCDKGWSAHNSHVVCGMLGFPSEKRVNAAFYRLLAQRQQHS
FGLHGVACVGTEAHLSLCSLEFYRANDTARCPGGGPAVVSCVPGPVYAASSGQKKQQQSK
PQGEARVRLKGGAHPGEGRVEVLKASTWGTVCDRKWDLHAASVVCRELGFGSAREALSGA
RMGQGMGAIHLSEVRCSGQELSLWKCPHKNITAEDCSHSQDAGVRCNLPYTGAETRIRLS
GGRSQHEGRVEVQIGGPGPLRWGLICGDDWGTLEAMVACRQLGLGYANHGLQETWYWDSG
NITEVVMSGVRCTGTELSLDQCAHHGTHITCKRTGTRFTAGVICSETASDLLLHSALVQE
TAYIEDRPLHMLYCAAEENCLASSARSANWPYGHRRLLRFSSQIHNLGRADFRPKAGRHS
WVWHECHGHYHSMDIFTHYDILTPNGTKVAEGHKASFCLEDTECQEDVSKRYECANFGEQ
GITVGCWDLYRHDIDCQWIDITDVKPGNYILQVVINPNFEVAESDFTNNAMKCNCKYDGH
RIWVHNCHIGDAFSEEANRRFERYPGQTSNQII

Sequence length

753

Interactions

View interactions

	Reactome
			Elastic fibre formation Crosslinking of collagen fibrils

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Myopia 28, autosomal recessive	Pathogenic	rs2104441352, rs2530025111	RCV001843703 RCV004798952	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
AUTOSOMAL RECESSIVE STICKLER SYNDROME	—	Orphanet Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOXL3-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOXL3-related Stickler syndrome, autosomal recessive	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Stickler syndrome type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME TYPE 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34539672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive Stickler syndrome	Stickler Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	19015874, 22231744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19015874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	36917121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34539672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34360836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31504232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29053339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	17287949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	38242344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22231744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21519871, 30536539		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29229995, 31340433		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	29229995, 36324258, 39273022	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	26957899, 36917121	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	29229995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28867147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31580073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	26957899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	25663169, 26957899, 30362103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Stickler syndrome	Pubtator	26957899, 36917121	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stickler syndrome, type 1	Stickler syndrome	BEFREE	25663169, 26957899, 30362103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	GENOMICS_ENGLAND_DG	25663169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	29802726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

LOXL3 (lysyl oxidase like 3)