COL9A3 (collagen type IX alpha 3 chain)

Gene

• Entrez ID: 1299
• Gene name: Collagen type IX alpha 3 chain
• Gene symbol: COL9A3
• Synonyms (NCBI Gene): DJ885L7.4.1, EDM3, IDD, MED, STL6
• Chromosome: 20
• Chromosome location: 20q13.33
• Summary: This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61734651	C>T	Risk-factor, likely-benign, benign	Coding sequence variant, missense variant
rs146578812	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 3 prime UTR variant, synonymous variant
rs150153886	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs606231367	G>A	Pathogenic	Splice acceptor variant
rs747896279	C>A,T	Pathogenic	Intron variant, coding sequence variant, stop gained, synonymous variant
rs766029215	G>A,T	Likely-pathogenic	Splice donor variant
rs1027769042	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, stop gained
rs1057518693	T>C	Pathogenic	Splice donor variant
rs1422176468	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555821817	A>C	Likely-pathogenic	Intron variant
rs1555824129	C>G	Pathogenic	Coding sequence variant, missense variant
rs1600786629	A>T	Pathogenic	Splice acceptor variant
rs1600786748	G>A	Pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018445	hsa-miR-335-5p	Microarray	18185580
MIRT903251	hsa-miR-129-5p	CLIP-seq
MIRT903252	hsa-miR-3137	CLIP-seq
MIRT903253	hsa-miR-3664-5p	CLIP-seq
MIRT903254	hsa-miR-4714-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005594	Component	Collagen type IX trimer	IBA
GO:0005594	Component	Collagen type IX trimer	IDA	8660302
GO:0005594	Component	Collagen type IX trimer	IPI	27897211
GO:0005594	Component	Collagen type IX trimer	TAS	8586434
GO:0005604	Component	Basement membrane	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IC	8660302
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0042803	Function	Protein homodimerization activity	IPI	8660302

Other IDs

• MIM: 120270
• HGNC: 2219
• e!Ensembl: ENSG00000092758

Protein

• UniProt ID: Q14050
• Protein name: Collagen alpha-3(IX) chain
• Protein function: Structural component of hyaline cartilage and vitreous of the eye.
• PDB: 5CTD, 5CTI, 5CVA, 5CVB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	24 → 84	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	62 → 118	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	178 → 237	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	349 → 426	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	460 → 522	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	549 → 610	Collagen triple helix repeat (20 copies)	Repeat

• Sequence:

  MAGPRACAPLLLLLLLGELLAAAGAQRVGLPGPPGPPGPPGKPGQDGIDGEAGPPGLPGP
  PGPKGAPGKPGKPGEAGLPGLPGVDGLTGRDGPPGPKGAPGERGSLGPPGPPGLGGKGLP
  GPPGEAGVSGPPGGIGLRGPPGPSGLPGLPGPPGPPGPPGHPGVLPEGATDLQCPSICPP
  GPPGPPGMPGFKGPTGYKGEQGEVGKDGEKGDPGPPGPAGLPGSVGLQGPRGLRGLPGPL
  GPPGDRGPIGFRGPPGIPGAPGKAGDRGERGPEGFRGPKGDLGRPGPKGTPGVAGPSGEP
  GMPGKDGQNGVPGLDGQKGEAGRNGAPGEKGPNGLPGLPGRAGSKGEKGERGRAGELGEA
  GPSGEPGVPGDAGMPGERGEAGHRGSAGALGPQGPPGAPGVRGFQGQKGSMGDPGLPGPQ
  GLRGDVGDRGPGGAAGPKGDQGIAGSDGLPGDKGELGPSGLVGPKGESGSRGELGPKGTQ
  GPNGTSGVQGVPGPPGPLGLQGVPGVPGITGKPGVPGKEASEQRIRELCGGMISEQIAQL
  AAHLRKPLAPGSIGRPGPAGPPGPPGPPGSIGHPGARGPPGYRGPTGELGDPGPRGNQGD
  RGDKGAAGAGLDGPEGDQGPQGPQGVPGTSKDGQDGAPGEPGPPGDPGLPGAIGAQGTPG
  ICDTSACQGAVLGGVGEKSGSRSS

• Sequence length: 684

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Protein digestion and absorption
Human papillomavirus infection

Reactome:

Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization

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
Autosomal recessive Stickler syndrome	Likely pathogenic	rs2063547889	RCV001291129	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL9A3-related disorder	Pathogenic	rs1423359801, rs606231367	RCV003896898 RCV004730850	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Likely pathogenic; Pathogenic	rs2147205530, rs2147208638	RCV002278707 RCV002278708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epiphyseal dysplasia, multiple, 3	Pathogenic; Likely pathogenic	rs2147195552, rs1201247953, rs2516030998, rs1600786629, rs1600786748, rs606231367, rs1555821817, rs1991037713	RCV002238719 RCV002502051 RCV002283859 RCV000018676 RCV000018678 RCV004795925 RCV000578427 RCV001198019	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epiphyseal dysplasia, multiple, 3, with myopathy	Pathogenic	rs606231367	RCV000018679	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral disc disorder	Likely pathogenic; Pathogenic	rs1201247953	RCV002502051	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lattice retinal degeneration	Likely pathogenic	rs1384292566	RCV001283725	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal detachment	Likely pathogenic	rs1384292566	RCV001283725	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome	Pathogenic; Likely pathogenic	rs763259234, rs1201247953	RCV002238720 RCV002238721	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome, type 6	Pathogenic; Likely pathogenic	rs2147208658, rs1470627424, rs763259234, rs1201247953, rs989413835, rs2516029074, rs606231470, rs747896279	RCV002305621 RCV002279978 RCV002279980 RCV002279981 RCV002280060 RCV002280061 RCV002279937 RCV002279960	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral sensorineural hearing impairment	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	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
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERVERTEBRAL DISC DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral disc disease, susceptibility to	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely 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	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	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
Multiple Epiphyseal Dysplasia, Dominant	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE VI	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitreoretinopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	29476661	Associate	★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022		★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	10973135, 11378664, 12028055, 1520607, 22924376		★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	10973135, 11378664, 12028055, 1520607, 22924376		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29805540		★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30643080		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27818061, 30147856		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	7612220		★☆☆☆☆ Found in Text Mining only
Autosomal recessive Stickler syndrome	Stickler Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bipolar Disorder	Bipolar Disorder	BEFREE	30147856		★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	18546327		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33691689	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31590967		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar medulloblastoma	Cerebellar medulloblastoma	BEFREE	9420431		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28038565		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	GENOMICS_ENGLAND_DG	15551337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	12096843, 20077500		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30664617		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29349514		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30147856		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29778537, 7612220, 7931087		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29778537, 7612220, 7931087		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28427244	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21169553, 28314937, 30342505		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28427244, 31590967		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	18553123		★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	27798555		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	31415586		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysplastic Nevus	Dysplastic Nevus	BEFREE	8752657		★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	21311409	Associate	★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3	Epiphyseal dysplasia	UNIPROT_DG	10090888, 25381065		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3	Epiphyseal dysplasia	GENOMICS_ENGLAND_DG	10678658, 15551337, 24273071		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3	Epiphyseal dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3	Epiphyseal dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY	Multiple Epiphyseal Dysplasia With Myopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epiphyseal Dysplasia, Multiple, with Myopathy	Multiple Epiphyseal Dysplasia With Myopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	9788574		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33078831	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	33570243, 33633367	Associate	★☆☆☆☆ Found in Text Mining only
Hemoglobin H Disease	Hemoglobin H Disease	BEFREE	1642095		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	17347910, 8828968, 8882879		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	8828968, 8882879		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30194545		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	12461395, 14644861, 16133074, 26342701, 30342505, 30785069		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	16133074	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	14644861, 16133074, 16586133, 21311409, 38166944	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	15167667, 24273071, 24636772, 28314937, 30342505		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral disc disorder	Intervertebral Disc Disorder	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral disc disorder	Intervertebral Disc Disorder	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral Disk Displacement	Intervertebral Disk Displacement	BEFREE	29145327		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	29506578		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	16133074, 21311409, 29506578		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31435916		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022, 9788574		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23799842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	30664617		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17347910		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	10090888, 10655510, 11479597, 11528506, 15183431, 15551337, 15694129, 16440132, 16514635, 17200202, 18193163, 21922596, 24273071, 25381065		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	GENOMICS_ENGLAND_DG	15551337		★☆☆☆☆ Found in Text Mining only
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Multiple Epiphyseal Dysplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10655510		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	33570243	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25955013, 28938620		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21868677		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16133074	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30147856		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12461395		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	12096843	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	12096843	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	10090888, 10655510, 11565064, 20358595, 21922596, 25381065, 30740902, 33633367, 39596690	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	27613720		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24101134		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31072097		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	21169553		★☆☆☆☆ Found in Text Mining only
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	15183431, 18193163, 18546327, 21042783, 21922596, 9021009		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	33570243, 33633367	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	33633367	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal Detachment	Retinal Detachment	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Sarcoma	BEFREE	20212452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30147856		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	9258750		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	CLINGEN_DG	15802199, 18448257, 20686772, 24273071, 30450842, 31090205		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	30362103, 30450842, 31090205		★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Stickler syndrome	Pubtator	33570243, 33633367, 34405586, 34824372, 35241111	Associate	★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	GENOMICS_ENGLAND_DG	24273071		★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	30362103, 30450842, 31090205		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28938620		★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only