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
• Disease Acronyms (UniProt): EDM2, 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:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005594	Component	Collagen type IX trimer	IDA	8660302
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
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:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231

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

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Connective tissue disease	Connective Tissue Diseases	rs5742905, rs80338688, rs80356506, rs104894800, rs104894948, rs28931614, rs121913482, rs28933068, rs121913483, rs137854464, rs121912870, rs387906980, rs587777352, rs527236145, rs189754995, rs730880214, rs794728188, rs863223852, rs745672741, rs763514968, rs1064793914, rs1085307608, rs1131691804, rs1555399144, rs1554787779, rs1555167139, rs1939205327	12244547
Epiphyseal dysplasia	Epiphyseal dysplasia, Epiphyseal dysplasia, multiple, 2	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817	12244547, 21671392, 20358595
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Multiple epiphyseal dysplasia	Multiple Epiphyseal Dysplasia, Multiple epiphyseal dysplasia due to collagen 9 anomaly	rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368, rs752248403, rs312262900, rs386833495, rs386833497, rs386833499, rs200963884, rs149551600, rs397515546, rs786204675, rs886039282, rs1057517523, rs1057517496, rs1057517462, rs1057517504, rs763198695, rs1057517483, rs1057517461, rs1057517524, rs1057517514, rs1057517526, rs1057517495, rs1057517532, rs1057517471, rs1057517502, rs1057517511, rs1057517482, rs1057517530, rs1057517474, rs762137330, rs1057517513, rs1014317450, rs1554095084, rs769859976, rs1554095145, rs1554095356, rs1554095374, rs1554095137, rs1554095156, rs745774620, rs1554095364, rs1481910744, rs1554095097, rs1554095125, rs1554095154, rs769657401, rs1554095381, rs1554095167, rs1554095266, rs1225601391, rs1554095296, rs1554095395, rs1235928535, rs1568554988, rs1561822760, rs1601054002, rs1601057167, rs1601054715, rs2055184939	20358595
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Stickler syndrome	Stickler syndrome (disorder), Stickler syndrome, type 1, STICKLER SYNDROME, TYPE V, Autosomal recessive Stickler syndrome	rs121912943, rs121912931, rs121912866, rs2136528572, rs121912869, rs121912870, rs121912872, rs121912873, rs121912876, rs794727377, rs2136508504, rs2136577259, rs121912882, rs1057524696, rs121912884, rs121912885, rs2136637244, rs121912893, rs1592232116, rs1592196064, rs121912896, rs121912897, rs121912898, rs80356554, rs606231376, rs398122828, rs189754995, rs672601354, rs672601355, rs748459670, rs886041713, rs886043356, rs886043410, rs886044244, rs1057517989, rs1057524114, rs72667036, rs1085307608, rs1131691822, rs1555165494, rs1553404310, rs1555166555, rs1553193910, rs1553223152, rs1555168965, rs1555164735, rs1555165204, rs1555166218, rs1555166295, rs1555166658, rs1025202963, rs1555168309, rs1246771678, rs866783525, rs201035486, rs1565679039, rs1557847904, rs1557877041, rs1557932876, rs1592233968, rs1592196744, rs1592217071, rs1592235241, rs1592202517, rs753342774, rs1592205758, rs1592206729, rs1269619781, rs1592196867, rs1592218346, rs1399676515, rs1939312423	15710493, 23530037, 27666725, 23159952, 20686772, 25852475, 15802199, 21671392, 17721977, 12244547, 20358595
Thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	rs121964962, rs121964964, rs5742905, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs587776600, rs121908172, rs121908173, rs121918714, rs104893809, rs104893815, rs104893810, rs104893811, rs104893816, rs104893817, rs104893819, rs111854391, rs113605875, rs111426349, rs267606902, rs121913552, rs267606796, rs137854458, rs137854461, rs137854463, rs137854464, rs137854466, rs112989722, rs137854476, rs137854477, rs137854478, rs137854479, rs137854480, rs137854485, rs786200923, rs113485686, rs397509370, rs121912927, rs121912923, rs121912926, rs121434526, rs121434527, rs121434528, rs387906592, rs387906606, rs387906623, rs387906697, rs387906781, rs387906782, rs387906850, rs587776881, rs387906853, rs193922183, rs193922185, rs193921256, rs112202622, rs193922198, rs193922204, rs113871094, rs147195031, rs193922236, rs397514558, rs397514590, rs397515757, rs113812345, rs25403, rs397515766, rs397515767, rs25404, rs397515774, rs397515784, rs397515788, rs397515793, rs397515805, rs397515808, rs397515811, rs397515812, rs111231312, rs113905529, rs113249837, rs397515821, rs397515823, rs397515829, rs111687884, rs113080385, rs397515848, rs397515854, rs397515867, rs397516685, rs112901682, rs397515330, rs587779450, rs587779461, rs587779471, rs587779476, rs587779478, rs587779479, rs587779482, rs587779490, rs587779504, rs397509372, rs587779518, rs587779534, rs587779536, rs587779540, rs587779550, rs587779535, rs587779563, rs587779583, rs587779584, rs587779596, rs587779604, rs587779609, rs587779500, rs587779620, rs587779625, rs587779626, rs587779541, rs587779650, rs587779671, rs112371422, rs587779685, rs587779687, rs587779691, rs587779692, rs587779695, rs587779533, rs587779706, rs587779712, rs587782948, rs587782977, rs587782979, rs587781259, rs767864243, rs146579504, rs864309481, rs370547023, rs727503476, rs727503472, rs727504292, rs727503054, rs140593, rs727503057, rs727505006, rs727504421, rs730880223, rs730880102, rs112645512, rs730880097, rs730880214, rs771298943, rs764160782, rs770095972, rs781444670, rs794727798, rs149119723, rs794728040, rs794728054, rs794728057, rs794728060, rs112602953, rs794728021, rs794728288, rs794728283, rs794728281, rs794728280, rs794728337, rs112118237, rs794728336, rs794728270, rs794728319, rs794728262, rs794728253, rs76702162, rs794728335, rs794728334, rs763091520, rs761857514, rs794728234, rs140627, rs140630, rs794728228, rs794728216, rs763449629, rs794728208, rs794728204, rs794728306, rs794728203, rs794728305, rs794728322, rs794728195, rs794728194, rs794728190, rs794728188, rs113422242, rs794728166, rs794728325, rs794728165, rs794728162, rs112660651, rs796051885, rs863223796, rs863223792, rs863223847, rs863223852, rs863223854, rs863223444, rs863223478, rs863223473, rs863223829, rs760079636, rs863223818, rs863223750, rs863223762, rs863223756, rs768713596, rs745672741, rs863223759, rs863223760, rs863223737, rs863223738, rs863223739, rs863223740, rs863223768, rs863223754, rs372010465, rs148865119, rs863224935, rs864622754, rs869025531, rs869025537, rs869025494, rs112642323, rs869025414, rs869025411, rs869025418, rs869312903, rs876657852, rs878854610, rs878854611, rs878853686, rs878853689, rs878853682, rs745409628, rs794728044, rs886038853, rs886038952, rs863223845, rs886039106, rs886038783, rs886038919, rs886038954, rs886038978, rs746972765, rs886038870, rs886038869, rs886038975, rs886038786, rs886038955, rs886038930, rs886039092, rs886039158, rs886038894, rs886038949, rs886038967, rs886038976, rs886039047, rs886038957, rs794728241, rs886038959, rs886038790, rs886039167, rs886038838, rs886038979, rs886039120, rs886038970, rs886038940, rs886039035, rs886039196, rs886038802, rs886038956, rs886038996, rs886038877, rs886039054, rs886039038, rs886038984, rs886038972, rs886039034, rs886039036, rs886039072, rs886039066, rs886038987, rs565513365, rs886039551, rs886039492, rs140583, rs886039550, rs886037823, rs886039820, rs886040966, rs886041046, rs886044547, rs755952006, rs1057518075, rs397514037, rs1057518653, rs1057521150, rs1057521106, rs1057524810, rs1057523796, rs1057523647, rs1057521101, rs1060501984, rs104893807, rs1060502045, rs1060502046, rs1060502827, rs1555399379, rs1060501035, rs1555412070, rs1555394151, rs1060501051, rs753486471, rs1060500770, rs1060500766, rs1060501092, rs1060501055, rs1060501021, rs1060501038, rs1060500773, rs1064796256, rs1064797017, rs1064794130, rs1064796636, rs1064794789, rs1555414236, rs757106110, rs1085307921, rs1085308004, rs1131691996, rs1131691766, rs363804, rs397515764, rs1555394195, rs113603747, rs528689432, rs587782947, rs1553303213, rs1553630171, rs1555360368, rs1555393875, rs1555395256, rs1555396427, rs1555397548, rs1006530719, rs587779704, rs587779578, rs104893812, rs1553630235, rs1553630289, rs1553630426, rs1553631693, rs1554122857, rs1057524497, rs1554700672, rs1555395486, rs1555396998, rs1555360229, rs1555412069, rs1555413579, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555400373, rs1555405031, rs1555397008, rs1555405108, rs1015798796, rs1553631968, rs1555394904, rs1553303352, rs1553508338, rs1555398835, rs1555401011, rs1555395826, rs1555399481, rs1347651454, rs1553508039, rs1553507180, rs1553507867, rs1553808296, rs727503475, rs1554799402, rs1554701881, rs1554702262, rs1555393516, rs1555393856, rs1555394142, rs1555395209, rs1555395742, rs1555396638, rs1555398830, rs1555399166, rs1555399387, rs1555400378, rs1555401687, rs1555459260, rs1433428588, rs1401035675, rs1553292123, rs1553303357, rs1553303745, rs1393544920, rs1553507574, rs1553507991, rs587779433, rs587779458, rs1553508957, rs1553509869, rs1554122896, rs1554123064, rs1554787526, rs1554792869, rs1554805638, rs1554726251, rs1554698926, rs1554700603, rs869025352, rs1555360047, rs1555393539, rs1555393823, rs1555393837, rs1555393844, rs1555393871, rs1555393880, rs1555394146, rs1555394149, rs1555394196, rs1555394396, rs1555394400, rs1555394433, rs112550005, rs1555394566, rs112836174, rs1555394781, rs1555394927, rs1555395002, rs1555395206, rs794728247, rs1304643689, rs1555395461, rs1555395652, rs1555395658, rs1555395840, rs765387131, rs1555396429, rs1555396760, rs1555396835, rs1555397000, rs1555397014, rs1555397016, rs1555397148, rs1555397154, rs778710767, rs1555397557, rs1555397646, rs1555397704, rs1555398143, rs1555398272, rs1555398406, rs372404949, rs1555398680, rs1555398681, rs1555398828, rs1057523406, rs1555399143, rs1555399147, rs1555399205, rs1555399257, rs1555399361, rs1555399388, rs1555399764, rs1555399835, rs1555399839, rs1555400285, rs1555401686, rs1555401699, rs363852, rs1555404819, rs1555405039, rs1555405056, rs1555405534, rs1555407416, rs1555405092, rs730880215, rs1557179684, rs1555395980, rs1555396789, rs1555399816, rs1555393647, rs1555395645, rs1556337063, rs1553507614, rs1553509391, rs1553630438, rs1553630274, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555395663, rs1555397652, rs1555398283, rs1445085747, rs1554702463, rs363810, rs363806, rs1555395820, rs1555394189, rs1555394397, rs1555394399, rs1555394783, rs363815, rs1555395267, rs111239111, rs1555396993, rs1060501076, rs113693945, rs1555398404, rs1555398625, rs1555399162, rs1555399210, rs193922188, rs1060501017, rs1060501041, rs1555400049, rs1555400278, rs1555400279, rs1156747241, rs1555400372, rs1555400387, rs752010116, rs1555401679, rs1555404810, rs141502207, rs1553292145, rs375737772, rs1566891654, rs1566897374, rs1566905976, rs1566891655, rs1346043320, rs1566999621, rs1567002059, rs1567002115, rs1567003613, rs863223832, rs1566891808, rs1245476075, rs1566890005, rs1352478541, rs1566913670, rs1566894230, rs765692335, rs1566914030, rs1566999458, rs1569482431, rs886039176, rs1566891701, rs1566999423, rs1566999601, rs1566999610, rs1559472349, rs1566891668, rs1566891675, rs1566892872, rs1566898120, rs1566900492, rs1566903914, rs1566904526, rs1555397419, rs1566906506, rs1555398627, rs1566919637, rs869312034, rs1566900540, rs794728192, rs1566938153, rs1566892735, rs1603360542, rs1597516325, rs1597531796, rs755528878, rs1575165264, rs1597512600, rs1597516347, rs1555398144, rs1595942351, rs1595960447, rs1595965925, rs1595965945, rs1576468385, rs1595956832, rs1320208623, rs1575165272, rs1597562812, rs1575166666, rs1588477255, rs794728193, rs1688258933, rs1699392675, rs760797386, rs1699709401, rs1827902114, rs2035418540, rs2043116624, rs1555395745, rs2043594915, rs2043746138, rs2043846274, rs2044515247, rs1291288543, rs373782713, rs2042873946, rs1688274077

Associations from Text Mining
Disease Name	Relationship Type	References
Achondroplasia	Associate	9258750
alpha Thalassemia	Associate	26377141
Anemia Sickle Cell	Associate	35319015
Diastrophic dysplasia	Associate	10465113
Encephalocele	Associate	21311409
Epiphyseal dysplasia multiple 2	Associate	9258750
Fibrocartilaginous embolism	Associate	16586133
Intervertebral Disc Degeneration	Associate	16133074
Intervertebral Disc Degeneration	Stimulate	16586133
Intervertebral disc disease	Associate	14644861, 16133074, 16586133, 21311409, 28002589
Lumbar Stenosis Familial	Associate	14644861
Microscopic Polyangiitis	Associate	23690996, 28569178
Muscular Atrophy	Associate	19995321
Muscular Diseases	Associate	20358595, 39596690
Myopia	Associate	29346494
Nerve Degeneration	Associate	21311409
Nonsyndromic Deafness	Associate	29346494
Obesity	Associate	27421018
Osteochondritis Dissecans	Associate	20358595, 39596690
Osteochondrodysplasias	Associate	10090888, 10364514, 10465113, 11565064, 19995321, 20358595, 21922596, 30740902, 39596690, 7942845
Patella Fracture	Associate	30740902
Patellofemoral Pain Syndrome	Associate	19995321
Personality Disorders	Associate	33450964
Prostatic Neoplasms	Associate	30027097, 33450964
Pseudoachondroplasia	Associate	9258750
Pyle disease	Associate	9258750
Sciatica	Associate	16133074
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Associate	19995321
Spondyloepimetaphyseal Dysplasia X Linked	Associate	9258750
Spondylolisthesis	Associate	21311409
Stickler syndrome type 1	Associate	33570243, 34405586