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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1298
Gene name	Collagen type IX alpha 2 chain
Gene symbol	COL9A2
Synonyms (NCBI Gene)	DJ39G22.4EDM2MEDSTL5
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

Show/Hide all (12)

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

210

Show/Hide all (210)

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

Show/Hide all (16)

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

MIM	HGNC	e!Ensembl
120260	2218	ENSG00000049089

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

Interactions

View interactions

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

262

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
COL9A2-related disorder	Likely pathogenic; Pathogenic	rs2522561294, rs2522513640, rs1085307973, rs756694568	RCV003400099 RCV003892245 RCV004740263 RCV003396351
Epiphyseal dysplasia, multiple, 2	Likely pathogenic; Pathogenic	rs1040081238, rs2124062571, rs1569763139, rs1569763108, rs1085307973, rs775401012, rs756694568	RCV003485720 RCV001775396 RCV000018680 RCV000018682 RCV000018684 RCV003990751 RCV001807641 RCV004783853
Intellectual disability	Likely pathogenic	rs1431787303	RCV001261389
See cases	Likely pathogenic	rs2124082390, rs2124040438	RCV002252436 RCV002252450
Stickler syndrome	Likely pathogenic; Pathogenic	rs781682527	RCV001375166
Stickler syndrome, type 5	Likely pathogenic; Pathogenic	rs1040081238, rs606231376	RCV003451810 RCV000022493

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity; Likely benign	rs76810153, rs368209124, rs79627294, rs117728155	RCV005892525 RCV005891697 RCV005891702 RCV005905460
Cervical cancer	Benign; Uncertain significance; Likely benign	rs6676129, rs760647943, rs117728155	RCV005917109 RCV005931431 RCV005905462
Clear cell carcinoma of kidney	Likely benign	rs138949427	RCV005891693
Colorectal cancer	Conflicting classifications of pathogenicity	rs368209124	RCV005891698
Connective tissue disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs752181922, rs3831927, rs201772619, rs370130857, rs745727857, rs1643933460, rs1643933432, rs1643933277, rs150075912, rs140697524, rs150687987, rs2229826, rs140041506, rs117563156, rs145327896 View all (6 more)	RCV002276727 RCV002276754 RCV002276758 RCV002277017 RCV002277033 RCV002278702 RCV002278703 RCV002278704 RCV002277356 RCV002277382 RCV002277394 RCV002278154 RCV002278153 RCV002278152 RCV002278151 RCV002278158 RCV002278157 RCV002278156 RCV002278155 RCV002278382 RCV002278383
Familial cancer of breast	Conflicting classifications of pathogenicity	rs368209124	RCV005891696
Gastric cancer	Likely benign	rs117728155	RCV005905463
Hepatocellular carcinoma	Benign	rs6676129	RCV005917108
Intervertebral disc disease, susceptibility to	Benign	rs137853213	RCV000018683
Intervertebral disc disorder	Conflicting classifications of pathogenicity	rs201847956	RCV000477829
Lung cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs368209124, rs79627294, rs117728155	RCV005891700 RCV005891703 RCV005905465
Malignant lymphoma, large B-cell, diffuse	Benign	rs3737815	RCV005892529
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity; Likely benign	rs76810153, rs373264436, rs117728155	RCV005892526 RCV005891695 RCV005905461
Melanoma	Conflicting classifications of pathogenicity	rs745522018	RCV005912829
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	rs760368550, rs142151614, rs201847956	RCV004571244 RCV004567848 RCV004568139
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs6676129, rs2124065362, rs76810153, rs368209124, rs138949427	RCV005917111 RCV005930027 RCV005892527 RCV005891699 RCV005891694
Sarcoma	Benign	rs6676129	RCV005917110
Thymoma	Benign; Likely benign	rs76810153, rs117728155	RCV005892528 RCV005905464
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	rs6676129, rs368209124	RCV005917112 RCV005891701

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

COL9A2 (collagen type IX alpha 2 chain)