COL9A2 (collagen type IX alpha 2 chain)

Gene

• Entrez ID: 1298
• Gene name: Collagen type IX alpha 2 chain
• Gene symbol: COL9A2
• Synonyms (NCBI Gene): DJ39G22.4, EDM2, MED, STL5
• Chromosome: 1
• Chromosome location: 1p34.2
• 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. This chain

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138882727	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs148362133	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150687987	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs373264436	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs535212284	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs606231376	TCGTCACC>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs761748258	G>-,GG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064797109	C>T	Likely-pathogenic	Splice donor variant
rs1085307973	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant
rs1557793484	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569763108	C>G	Pathogenic	Intron variant
rs1569763139	A>G	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019087	hsa-miR-335-5p	Microarray	18185580
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT668937	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT668936	hsa-miR-148b-5p	HITS-CLIP	23824327
MIRT668935	hsa-miR-6874-3p	HITS-CLIP	23824327
MIRT668934	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT668933	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT668932	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT668931	hsa-miR-204-3p	HITS-CLIP	23824327
MIRT668930	hsa-miR-4646-5p	HITS-CLIP	23824327
MIRT668929	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT668928	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT668927	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT668926	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT668925	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT668924	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT668923	hsa-miR-4314	HITS-CLIP	23824327
MIRT668922	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT528431	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT528438	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT528437	hsa-miR-4794	PAR-CLIP	22012620
MIRT528436	hsa-miR-664a-5p	PAR-CLIP	22012620
MIRT528435	hsa-miR-1273f	PAR-CLIP	22012620
MIRT528434	hsa-miR-6069	PAR-CLIP	22012620
MIRT528433	hsa-miR-193b-5p	PAR-CLIP	22012620
MIRT528432	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT528431	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT528430	hsa-miR-3170	PAR-CLIP	22012620
MIRT528429	hsa-miR-6855-5p	PAR-CLIP	22012620
MIRT528428	hsa-miR-2113	PAR-CLIP	22012620
MIRT528427	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT496787	hsa-miR-323b-3p	PAR-CLIP	22291592
MIRT496786	hsa-miR-4786-3p	PAR-CLIP	22291592
MIRT496785	hsa-miR-7843-3p	PAR-CLIP	22291592
MIRT496784	hsa-miR-3611	PAR-CLIP	22291592
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT668937	hsa-miR-148a-5p	HITS-CLIP	23824327
MIRT668936	hsa-miR-148b-5p	HITS-CLIP	23824327
MIRT668935	hsa-miR-6874-3p	HITS-CLIP	23824327
MIRT668934	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT668933	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT668932	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT668931	hsa-miR-204-3p	HITS-CLIP	23824327
MIRT668930	hsa-miR-4646-5p	HITS-CLIP	23824327
MIRT668929	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT668928	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT668927	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT668926	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT668925	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT668924	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT668923	hsa-miR-4314	HITS-CLIP	23824327
MIRT668922	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT619000	hsa-miR-4494	HITS-CLIP	23824327
MIRT618999	hsa-miR-499b-5p	HITS-CLIP	23824327
MIRT618998	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT618997	hsa-miR-4711-5p	HITS-CLIP	23824327
MIRT618996	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT618995	hsa-miR-507	HITS-CLIP	23824327
MIRT618994	hsa-miR-557	HITS-CLIP	23824327
MIRT618993	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT618992	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT528431	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT528438	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT528437	hsa-miR-4794	PAR-CLIP	22012620
MIRT528436	hsa-miR-664a-5p	PAR-CLIP	22012620
MIRT528435	hsa-miR-1273f	PAR-CLIP	22012620
MIRT528434	hsa-miR-6069	PAR-CLIP	22012620
MIRT528433	hsa-miR-193b-5p	PAR-CLIP	22012620
MIRT528432	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT528431	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT528430	hsa-miR-3170	PAR-CLIP	22012620
MIRT528429	hsa-miR-6855-5p	PAR-CLIP	22012620
MIRT528428	hsa-miR-2113	PAR-CLIP	22012620
MIRT528427	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT496787	hsa-miR-323b-3p	PAR-CLIP	22291592
MIRT496786	hsa-miR-4786-3p	PAR-CLIP	22291592
MIRT496785	hsa-miR-7843-3p	PAR-CLIP	22291592
MIRT496784	hsa-miR-3611	PAR-CLIP	22291592
MIRT903232	hsa-miR-1275	CLIP-seq
MIRT903233	hsa-miR-1343	CLIP-seq
MIRT903234	hsa-miR-200b	CLIP-seq
MIRT903235	hsa-miR-200c	CLIP-seq
MIRT903236	hsa-miR-3160-3p	CLIP-seq
MIRT903237	hsa-miR-3175	CLIP-seq
MIRT903238	hsa-miR-3192	CLIP-seq
MIRT903239	hsa-miR-3689a-3p	CLIP-seq
MIRT903240	hsa-miR-3689c	CLIP-seq
MIRT903241	hsa-miR-429	CLIP-seq
MIRT903242	hsa-miR-4487	CLIP-seq
MIRT903243	hsa-miR-4525	CLIP-seq
MIRT903244	hsa-miR-4665-5p	CLIP-seq
MIRT903245	hsa-miR-4723-5p	CLIP-seq
MIRT903246	hsa-miR-4728-5p	CLIP-seq
MIRT903247	hsa-miR-493	CLIP-seq
MIRT903248	hsa-miR-558	CLIP-seq
MIRT903249	hsa-miR-625	CLIP-seq
MIRT903250	hsa-miR-637	CLIP-seq
MIRT1967817	hsa-miR-1324	CLIP-seq
MIRT903233	hsa-miR-1343	CLIP-seq
MIRT1967818	hsa-miR-148a	CLIP-seq
MIRT1967819	hsa-miR-148b	CLIP-seq
MIRT1967820	hsa-miR-152	CLIP-seq
MIRT1967821	hsa-miR-3127-3p	CLIP-seq
MIRT903247	hsa-miR-493	CLIP-seq
MIRT2203655	hsa-miR-1207-5p	CLIP-seq
MIRT2203656	hsa-miR-1252	CLIP-seq
MIRT2203657	hsa-miR-1827	CLIP-seq
MIRT903234	hsa-miR-200b	CLIP-seq
MIRT903235	hsa-miR-200c	CLIP-seq
MIRT903236	hsa-miR-3160-3p	CLIP-seq
MIRT903238	hsa-miR-3192	CLIP-seq
MIRT2203658	hsa-miR-3612	CLIP-seq
MIRT903239	hsa-miR-3689a-3p	CLIP-seq
MIRT903240	hsa-miR-3689c	CLIP-seq
MIRT903241	hsa-miR-429	CLIP-seq
MIRT903242	hsa-miR-4487	CLIP-seq
MIRT2203659	hsa-miR-4533	CLIP-seq
MIRT903246	hsa-miR-4728-5p	CLIP-seq
MIRT2203660	hsa-miR-4747-5p	CLIP-seq
MIRT2203661	hsa-miR-4763-3p	CLIP-seq
MIRT903248	hsa-miR-558	CLIP-seq
MIRT2203662	hsa-miR-650	CLIP-seq
MIRT2203663	hsa-miR-940	CLIP-seq
MIRT2386350	hsa-miR-3150a-3p	CLIP-seq
MIRT903237	hsa-miR-3175	CLIP-seq
MIRT2386351	hsa-miR-3936	CLIP-seq
MIRT2386352	hsa-miR-4651	CLIP-seq
MIRT2386353	hsa-miR-491-5p	CLIP-seq
MIRT2386354	hsa-miR-542-5p	CLIP-seq
MIRT2386355	hsa-miR-608	CLIP-seq
MIRT2386356	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	10364514
GO:0005515	Function	Protein binding	IPI	32296183
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	10364514
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:0031012	Component	Extracellular matrix	IBA
GO:0042803	Function	Protein homodimerization activity	IPI	8660302

Other IDs

• MIM: 120260
• HGNC: 2218
• e!Ensembl: ENSG00000049089

Protein

• UniProt ID: Q14055
• Protein name: Collagen alpha-2(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	25 → 81	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	60 → 116	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	114 → 171	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	176 → 236	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	314 → 386	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	406 → 481	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	460 → 524	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	550 → 611	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	609 → 667	Collagen triple helix repeat (20 copies)	Repeat

• Sequence:

  MAAATASPRSLLVLLQVVVLALAQIRGPPGERGPPGPPGPPGVPGSDGIDGDNGPPGKAG
  PPGPKGEPGKAGPDGPDGKPGIDGLTGAKGEPGPMGIPGVKGQPGLPGPPGLPGPGFAGP
  PGPPGPVGLPGEIGIRGPKGDPGPDGPSGPPGPPGKPGRPGTIQGLEGSADFLCPTNCPP
  GMKGPPGLQGVKGHAGKRGILGDPGHQGKPGPKGDVGASGEQGIPGPPGPQGIRGYPGMA
  GPKGETGPHGYKGMVGAIGATGPPGEEGPRGPPGRAGEKGDEGSPGIRGPQGITGPKGAT
  GPPGINGKDGTPGTPGMKGSAGQAGQPGSPGHQGLAGVPGQPGTKGGPGDQGEPGPQGLP
  GFSGPPGKEGEPGPRGEIGPQGIMGQKGDQGERGPVGQPGPQGRQGPKGEQGPPGIPGPQ
  GLPGVKGDKGSPGKTGPRGKVGDPGVAGLPGEKGEKGESGEPGPKGQQGVRGEPGYPGPS
  GDAGAPGVQGYPGPPGPRGLAGNRGVPGQPGRQGVEGRDATDQHIVDVALKMLQEQLAEV
  AVSAKREALGAVGMMGPPGPPGPPGYPGKQGPHGHPGPRGVPGIVGAVGQIGNTGPKGKR
  GEKGDPGEVGRGHPGMPGPPGIPGLPGRPGQAINGKDGDRGSPGAPGEAGRPGLPGPVGL
  PGFCEPAACLGASAYASARLTEPGSIKGP

• Sequence length: 689

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
COL9A2-related disorder	Likely pathogenic; Pathogenic	rs2522561294, rs2522513640, rs1085307973, rs756694568	RCV003400099 RCV003892245 RCV004740263 RCV003396351	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epiphyseal dysplasia, multiple, 2	Likely pathogenic; Pathogenic	rs1040081238, rs2124062571, rs1569763139, rs1569763108, rs1085307973, rs775401012, rs756694568	RCV003485720 RCV001775396 RCV000018680 RCV000018682 RCV000018684 RCV003990751 RCV001807641 RCV004783853	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs1431787303	RCV001261389	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome	Likely pathogenic; Pathogenic	rs781682527	RCV001375166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stickler syndrome, type 5	Likely pathogenic; Pathogenic	rs1040081238, rs606231376	RCV003451810 RCV000022493	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE STICKLER SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	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
Connective tissue disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPIPHYSEAL DYSPLASIA	—	Disgenet	★★☆☆☆ 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	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral disc disease, susceptibility to	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral disc disorder	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Conflicting classifications of pathogenicity; Benign; 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; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOCHONDRODYSPLASIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE V	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	Pubtator	9258750	Associate	★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022		★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	26377141	Associate	★☆☆☆☆ 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
Anemia Sickle Cell	Sickle cell anemia	Pubtator	35319015	Associate	★☆☆☆☆ 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
Autosomal recessive Stickler syndrome	Stickler Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases, Developmental	Bone Disease	BEFREE	18546327		★☆☆☆☆ 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	12244547		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	21159828		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Degenerative polyarthritis	Arthritis	BEFREE	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
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31590967		★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	10465113	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	18553123		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ 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 + Unknown/Other Associations
Epiphyseal dysplasia multiple 2	Epiphyseal dysplasia	Pubtator	9258750	Associate	★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia, multiple, 2	Epiphyseal dysplasia	GENOMICS_ENGLAND_DG	12244547, 20358595, 21671392		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epiphyseal dysplasia, multiple, 2	Epiphyseal dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	9788574		★☆☆☆☆ 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	14644861, 16371896, 18246003, 26342701		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	16133074	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	16586133	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	14644861, 16133074, 16586133, 21311409, 28002589	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	10411504, 11118298, 15167667, 24636772, 28002589		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intervertebral disc disorder	Intervertebral Disc Disorder	UNIPROT_DG	10411504		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intervertebral disc disorder	Intervertebral Disc Disorder	GENOMICS_ENGLAND_DG	20358595, 21671392		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LAURIN-SANDROW SYNDROME	Laurin-Sandrow syndrome	BEFREE	21228751		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	21159828, 29506578, 30288688		★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	16133074, 17024315, 18080148, 21159828, 21311409, 24983932, 27798555, 29506578, 30288688		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	15367707, 21720807, 24756834, 2478022, 9788574		★☆☆☆☆ Found in Text Mining only
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
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	23690996, 28569178	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	10090888, 10364514, 10842095, 11479597, 11528506, 12244547, 15183431, 15694129, 16440132, 16514635, 17200202, 18193163, 20358595, 9605591		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	GENOMICS_ENGLAND_DG	20358595		★☆☆☆☆ 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	20358595		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28938620		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	21868677		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27421018	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	21159828		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondritis Dissecans	Osteochondritis Dissecans	BEFREE	20358595, 26122666		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	10090888, 10364514, 10465113, 11565064, 19995321, 20358595, 21922596, 30740902, 39596690, 7942845	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	LHGDN	12244547, 16440132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrosis	Osteochondrosis	BEFREE	17065790		★☆☆☆☆ 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
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30027097, 33450964	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoachondroplasia	Pseudoachondroplasia	BEFREE	15183431, 18193163, 18546327, 21922596, 9021009, 9258750		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16249825		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20212452		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal stenosis of lumbar region	Spinal Stenosis Of Lumbar Region	BEFREE	21228751		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	9258750		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	CLINGEN_DG	15710493, 15802199, 17721977, 20686772, 21671392, 23159952, 23530037, 25852475, 27666725		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	BEFREE	21671392, 23922384		★☆☆☆☆ Found in Text Mining only
Stickler syndrome (disorder)	Stickler syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stickler syndrome type 1	Stickler syndrome	Pubtator	33570243, 34405586	Associate	★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	BEFREE	21671392, 23922384		★☆☆☆☆ Found in Text Mining only
Stickler syndrome, type 1	Stickler syndrome	GENOMICS_ENGLAND_DG	21671392		★☆☆☆☆ Found in Text Mining only
STICKLER SYNDROME, TYPE V	Stickler syndrome	GENOMICS_ENGLAND_DG	12244547, 20358595, 21671392		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE V	Stickler syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STICKLER SYNDROME, TYPE V	Stickler syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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