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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1302
Gene name	Collagen type XI alpha 2 chain
Gene symbol	COL11A2
Synonyms (NCBI Gene)	DFNA13DFNB53FBCG2HKE5OSMEDAOSMEDBPARPSTL3
Chromosome	6
Chromosome location	6p21.32
Summary	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chai

Show/Hide all (46)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41266697	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs41268014	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs113067047	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs121912945	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912946	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912947	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912948	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912949	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs121912950	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121912951	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121912952	G>T	Likely-pathogenic, pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs145499142	G>A	Uncertain-significance, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs147576338	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs200523422	A>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs200947059	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs374156844	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs375268140	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs376797260	G>A	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs550153707	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs606231410	C>A,T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs727502939	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs745434198	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs746754428	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs748440351	G>-,GG	Pathogenic-likely-pathogenic, uncertain-significance	Intron variant, frameshift variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, upstream transcript variant
rs750995470	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs764450149	G>A,C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, stop gained
rs768569721	C>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs786205578	A>G,T	Likely-pathogenic	Synonymous variant, upstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs797044915	C>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs864309477	GCCCCGGGGGGCCTGGGTGACCTCTCT>-	Pathogenic	Genic downstream transcript variant, inframe indel, coding sequence variant
rs864309523	G>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs886044584	CTTCC>T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs911722283	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1554218503	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1554220864	->C	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1554223504	G>A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, intron variant
rs1554225999	GG>C	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554226209	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1562312539	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562315748	C>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1562336726	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583287711	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1583335192	TTCC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583351636	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583366400	->G	Likely-pathogenic	Intron variant, frameshift variant, upstream transcript variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant
rs1583394539	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments
MIRT902436	hsa-miR-3157-5p	CLIP-seq
MIRT902437	hsa-miR-3170	CLIP-seq
MIRT902438	hsa-miR-3173-5p	CLIP-seq
MIRT902439	hsa-miR-4690-3p	CLIP-seq
MIRT902440	hsa-miR-4734	CLIP-seq
MIRT902441	hsa-miR-1912	CLIP-seq
MIRT902438	hsa-miR-3173-5p	CLIP-seq
MIRT902442	hsa-miR-3190	CLIP-seq
MIRT902440	hsa-miR-4734	CLIP-seq
MIRT902443	hsa-miR-7	CLIP-seq
MIRT1967696	hsa-miR-421	CLIP-seq
MIRT1967697	hsa-miR-4686	CLIP-seq
MIRT2203454	hsa-miR-1236	CLIP-seq
MIRT902442	hsa-miR-3190	CLIP-seq
MIRT2203455	hsa-miR-4753-3p	CLIP-seq
MIRT2203456	hsa-miR-4768-5p	CLIP-seq
MIRT902443	hsa-miR-7	CLIP-seq
MIRT2203457	hsa-miR-942	CLIP-seq
MIRT2506461	hsa-miR-1913	CLIP-seq
MIRT2506462	hsa-miR-3176	CLIP-seq
MIRT2506463	hsa-miR-324-3p	CLIP-seq
MIRT2506464	hsa-miR-3616-3p	CLIP-seq
MIRT2506465	hsa-miR-3922-3p	CLIP-seq
MIRT2506466	hsa-miR-4721	CLIP-seq
MIRT2506467	hsa-miR-4763-5p	CLIP-seq
MIRT2506461	hsa-miR-1913	CLIP-seq
MIRT2506462	hsa-miR-3176	CLIP-seq
MIRT2506463	hsa-miR-324-3p	CLIP-seq
MIRT2506464	hsa-miR-3616-3p	CLIP-seq
MIRT2506465	hsa-miR-3922-3p	CLIP-seq
MIRT2506466	hsa-miR-4721	CLIP-seq
MIRT2506467	hsa-miR-4763-5p	CLIP-seq

Show/Hide all (6)

Transcription factor	Regulation	Reference
HMGA2	Activation	16375854
SOX10	Activation	12783851
SOX9	Activation	12783851
SP1	Activation	16734381
SP3	Activation	16734381
SP7	Activation	16734381

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	10677296
GO:0001501	Process	Skeletal system development	NAS	7859284, 8838804
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005515	Function	Protein binding	IPI	17703188
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005585	Component	Collagen type II trimer	IDA	24113490
GO:0005592	Component	Collagen type XI trimer	NAS	7859284, 8838804, 17876790
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IMP	10581026
GO:0007605	Process	Sensory perception of sound	IMP	9188673, 10677296, 16033917
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	NAS	7859284, 8838804
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	28675934
GO:0030199	Process	Collagen fibril organization	IBA
GO:0030199	Process	Collagen fibril organization	IDA	9188673
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	10677296
GO:0031012	Component	Extracellular matrix	HDA	28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051216	Process	Cartilage development	IBA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	IMP	9188673
GO:0060021	Process	Roof of mouth development	IMP	12673280
GO:0060023	Process	Soft palate development	IMP	10677296

MIM	HGNC	e!Ensembl
120290	2187	ENSG00000204248

P13942

Protein name

Collagen alpha-2(XI) chain

Protein function

May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02210	Laminin_G_2	92 → 211	Laminin G domain	Domain
PF01391	Collagen	396 → 450	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	485 → 546	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	528 → 606	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	832 → 900	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1099 → 1156	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1114 → 1175	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1539 → 1621	Fibrillar collagen C-terminal domain	Family
PF01410	COLFI	1616 → 1734	Fibrillar collagen C-terminal domain	Family

Sequence

MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAY
RVARPAQLSAPTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPV
RFLYEDQTGRPQPPSQPVFRGLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSAR
PVLDTHGVIIFGARILDEEVFEGDVQELAIVPGVQAAYESCEQKELECEGGQRERPQNQQ
PHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYYDVMTTGTTPDYQDPTPGEEE
EILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGYGDDYREETEL
GPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPG
PVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQ
ARLALRGPPGPMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRA
GADGARGMPGDPGVKGDRGFDGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPR
GLPGESGPRGLLGPKGPPGIPGPPGVRGMDGPQGPKGSLGPQGEPGPPGQQGTPGTQGLP
GPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPGTKGNQGPSGPQGPLGYPGPR
GVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGPEGPKGRTGPT
GDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGER
GPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKD
GLPGHPGQRGEVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTA
GKEGTKGDPGPPGAPGKDGPAGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGER
GAAGSGGPIGPPGRPGPQGPPGAAGEKGVPGEKGPIGPTGRDGVQGPVGLPGPAGPPGVA
GEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPGAAGADGEPGARGPQGHFGAK
GDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGPNGADGPQGPP
GGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDD
GPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKR
GPAGSPGSEGRQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRP
GATGQAGPPGPVGPPGLPGLRGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSP
GQKGEMGIPGASGPIGPGGPPGLPGPAGPKGAKGATGPGGPKGEKGVQGPPGHPGPPGEV
IQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGLEEIFGSLDSLREEIEQMRRP
TGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGETCVTPRDDVT
QFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSP
YVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG

Sequence length

1736

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Protein digestion and absorption		Collagen degradation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Non-integrin membrane-ECM interactions MET activates PTK2 signaling Collagen chain trimerization

1281

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 13	Likely pathogenic; Pathogenic	rs2150532832, rs2534810137, rs2534413642, rs764045158, rs121912947, rs121912948, rs121912950, rs121912951, rs911722283, rs1583335192	RCV003155546 RCV005036902 RCV005037022 RCV005040599 RCV000018662 RCV000018663 RCV000761299 RCV002496405 RCV002489177 RCV003326527
Autosomal recessive nonsyndromic hearing loss 53	Likely pathogenic; Pathogenic	rs1404134749, rs606231410, rs864309523, rs2534810137, rs2534413642, rs764045158, rs121912951, rs911722283, rs1562336726, rs550153707, rs1583366400	RCV002250856 RCV000202598 RCV000202578 RCV005036902 RCV005037022 RCV005040599 RCV002496405 RCV002489177 RCV000785022 RCV001004793 RCV001004792
COL11A2-related disorder	Likely pathogenic; Pathogenic	rs1387164225, rs149697159, rs2534796103, rs2534743360, rs757215211, rs121912947, rs121912950, rs1280126526	RCV003408012 RCV004542204 RCV003404678 RCV003909159 RCV003913950 RCV003398542 RCV004748528 RCV004544209
Fibrochondrogenesis 2	Pathogenic; Likely pathogenic	rs1455983505, rs2534810137, rs2534413642, rs764045158, rs121912951, rs2150577320, rs2150551158, rs911722283, rs1583335192	RCV001844332 RCV005036902 RCV005037022 RCV005040599 RCV002496405 RCV000022498 RCV000022499 RCV002489177 RCV000995511
Nonsyndromic Deafness	Pathogenic	rs606231410	RCV000148342
Oculodentodigital dysplasia, autosomal recessive	Likely pathogenic; Pathogenic	rs746754428	RCV005645112
Otospondylomegaepiphyseal dysplasia, autosomal dominant	Likely pathogenic; Pathogenic	rs2150555528, rs1417182811, rs2534894263, rs2534810137, rs2534413642, rs764045158, rs750995470, rs864309477, rs121912946, rs121912950, rs121912951, rs911722283, rs1554220864, rs1583287711	RCV001809269 RCV005860278 RCV005622221 RCV005036902 RCV005037022 RCV005040599 RCV000018657 RCV000018659 RCV000018660 RCV000018665 RCV002496405 RCV002489177 RCV004813122 RCV000856785
Otospondylomegaepiphyseal dysplasia, autosomal recessive	Likely pathogenic; Pathogenic	rs2150548120, rs2535107319, rs770271840, rs2535272417, rs886044584, rs2534810137, rs2534413642, rs764045158, rs121912949, rs121912951, rs1562315748, rs911722283, rs1583351636, rs1583394539, rs1583335192	RCV001809326 RCV002468858 RCV004007574 RCV003314309 RCV003224871 RCV005036902 RCV005037022 RCV005040599 RCV000018664 RCV000018666 RCV000018668 RCV002489177 RCV000987676 RCV000987677 RCV001257573
Rare genetic deafness	Likely pathogenic; Pathogenic	rs121912947, rs1554216943	RCV000605765 RCV000602313
Retinal dystrophy	Likely pathogenic	rs1770116834	RCV001073747
See cases	Likely pathogenic; Pathogenic	rs367706373, rs1583394539	RCV002252751 RCV002252280
Sensorineural hearing loss disorder	Likely pathogenic	rs745434198	RCV000415302

Show/Hide Unknown Diseases (33)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs41317102, rs41317098	RCV005904126 RCV005904131
Autosomal dominant nonsyndromic hearing loss 33	Conflicting classifications of pathogenicity	rs143965711	RCV004527391
Cervical cancer	Benign	rs73741509	RCV005905562
Cholangiocarcinoma	Benign	rs2855459, rs41317102, rs41317098	RCV005923531 RCV005904130 RCV005904135
Clear cell carcinoma of kidney	Benign; Likely benign	rs73741539	RCV005894922
Connective tissue disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs151319255, rs200635355, rs2150579159, rs745859259, rs759890035, rs186720023, rs2229790, rs1799912, rs142962835, rs138380958, rs41268014, rs146555195, rs114580597, rs143186319, rs376797260 View all (43 more)	RCV002276800 RCV002277021 RCV002278764 RCV002278772 RCV002278784 RCV002277307 RCV002277311 RCV002277310 RCV002277309 RCV000680466 RCV002277298 RCV000680464 RCV000659344 RCV002277308 RCV000680469 RCV002277379 RCV002277402 RCV002277418 RCV002277425 RCV002277571 RCV002277576 RCV002277577 RCV002277575 RCV000659335 RCV000680476 RCV002277574 RCV000659333 RCV002278614 RCV000680470 RCV000659330 RCV000659339 RCV002279375 RCV000680475 RCV000680468 RCV000659346 RCV000659345 RCV000659343 RCV000659342 RCV000659341 RCV000659340 RCV000659338 RCV000659337 RCV000659334 RCV000659332 RCV000659331 RCV000659329 RCV000659328 RCV000680465 RCV000680467 RCV000680471 RCV000680472 RCV000680473 RCV000680474 RCV000680477 RCV000659336 RCV002277129 RCV002277130 RCV002277131 RCV002277132
Cystic hygroma	Conflicting classifications of pathogenicity; Uncertain significance	rs748440351, rs1771229712	RCV001257368 RCV001257367
Deafness	Conflicting classifications of pathogenicity	rs748440351	RCV004798844
Down syndrome	Conflicting classifications of pathogenicity	rs751612997	RCV001375154
Ear malformation	Conflicting classifications of pathogenicity	rs748440351	RCV001814194
Familial cancer of breast	Benign	rs116015488, rs986521, rs2744512, rs970901	RCV005911519 RCV005924504 RCV005894277 RCV005890135
Fibrochondrogenesis 1	Benign; Likely benign; Conflicting classifications of pathogenicity	rs555657704, rs147815324, rs55730247, rs151319255, rs372250466, rs533843327	RCV000268722 RCV000362977 RCV000338458 RCV000331778 RCV000310865 RCV000311770
Gastric cancer	Benign	rs41317102, rs41317098	RCV005904129 RCV005904134
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	rs1366292773, rs780071501, rs758796613, rs2150522213, rs184399988, rs957902805, rs1482152365, rs199866657, rs141140798, rs121912952, rs147927477, rs1583334125	RCV001375282 RCV001375300 RCV001375206 RCV001375326 RCV001375158 RCV001375385 RCV001375447 RCV005625370 RCV001375359 RCV001375391 RCV001375473 RCV001002792
Heart, malformation of	Conflicting classifications of pathogenicity; Uncertain significance	rs748440351, rs1771229712	RCV001257368 RCV001257367
Hepatocellular carcinoma	Benign	rs3116955, rs986521, rs2855459, rs2744512, rs970901, rs2254287	RCV005918072 RCV005924505 RCV005923529 RCV005894278 RCV005890136 RCV005904111
Infantile hypophosphatasia	Uncertain significance	rs1413052565	RCV001542662
Intellectual disability	Conflicting classifications of pathogenicity	rs1259912377	RCV001255333
Larsen-like syndrome, B3GAT3 type	Conflicting classifications of pathogenicity	rs770888294	RCV000171392
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign; Uncertain significance	rs370055023, rs151098305, rs376636281	RCV005919301 RCV005892002 RCV005934851
Malignant tumor of urinary bladder	Benign; Likely benign	rs141815296	RCV005888497
Melanoma	Benign; Likely benign	rs151098305	RCV005892003
Monogenic hearing loss	Conflicting classifications of pathogenicity	rs2150565478	RCV006272151
Nonsyndromic genetic hearing loss	Conflicting classifications of pathogenicity; Benign; Likely benign	rs139116571, rs145871842, rs543145528	RCV005361084 RCV005357877 RCV005357904
Nonsyndromic Hearing Loss, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity	rs147815324, rs151319255, rs372250466, rs533843327	RCV000366636 RCV000274352 RCV000365478 RCV000262388
Ovarian serous cystadenocarcinoma	Benign	rs73741509	RCV005905564
Sarcoma	Benign	rs41317102, rs73741509, rs41317098	RCV005904128 RCV005905563 RCV005904133
Short long bone	Conflicting classifications of pathogenicity; Uncertain significance	rs748440351, rs1771229712	RCV001257368 RCV001257367
Stickler Syndrome, Dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs186720023, rs2229790, rs1799912, rs34055850, rs727504460, rs147576338, rs138380958, rs61730262, rs549704545, rs41268014, rs146555195, rs114580597, rs143186319, rs150877886, rs146093235 View all (83 more)	RCV000329091 RCV000403779 RCV000343257 RCV000274971 RCV000368741 RCV000338212 RCV000330030 RCV000272763 RCV000299559 RCV000297041 RCV000381519 RCV000328356 RCV000327231 RCV000385490 RCV000383522 RCV000360575 RCV000320721 RCV000293819 RCV000265543 RCV000407039 RCV000280159 RCV000310534 RCV000347444 RCV000392185 RCV000376785 RCV000391267 RCV000379548 RCV000336770 RCV000308347 RCV000295481 RCV000272333 RCV000278458 RCV000333347 RCV000299857 RCV000369185 RCV000259748 RCV000404470 RCV000295270 RCV000306065 RCV000325506 RCV000348277 RCV000283442 RCV000370811 RCV000383614 RCV000324005 RCV000388124 RCV000278978 RCV000292764 RCV000274889 RCV000274842 RCV000288376 RCV000389201 RCV000276412 RCV000370467 RCV000398590 RCV000304362 RCV000273187 RCV000403042 RCV000285044 RCV000353615 RCV000318306 RCV000280238 RCV000346715 RCV000307051 RCV000340039 RCV000400742 RCV000263379 RCV000379465 RCV000341141 RCV000401417 RCV000403286 RCV000270693 RCV000357271 RCV000314487 RCV000323351 RCV000382942 RCV000309896 RCV000400234 RCV000278172 RCV000291185 RCV000327462 RCV000368528 RCV000285523 RCV000390997 RCV000359665 RCV000381463 RCV000376294 RCV000348798 RCV000261779 RCV000312865 RCV000322266 RCV000408207 RCV000292997 RCV000266076 RCV000350927 RCV000299712 RCV000266541 RCV000280998
Thickened nuchal skin fold	Conflicting classifications of pathogenicity; Uncertain significance	rs748440351, rs1771229712	RCV001257368 RCV001257367
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs754205211	RCV005924250
Uterine carcinosarcoma	Benign	rs116015488, rs2855459, rs73741509	RCV005911520 RCV005923530 RCV005905565
Uveal melanoma	Benign	rs41317102, rs41317098	RCV005904127 RCV005904132

Show/Hide Text Mining Associations (92)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	38182570
Aortic Valve Insufficiency	Stimulate	34148301
Arthritis Rheumatoid	Associate	35363175
Ataxia Telangiectasia	Associate	37524790
Breast Neoplasms	Associate	19242112, 19589159, 22915752, 22987487, 27708239, 28765325, 29587668, 32657779, 33121449, 35279688, 37298108, 37756561, 39243563, 40421962
Burkitt Lymphoma	Associate	36012375
Calcinosis Cutis	Associate	32657779
Carcinoma Non Small Cell Lung	Associate	21801305
Carcinoma Ovarian Epithelial	Associate	33352687
Cartilage Diseases	Associate	26973327
Cholangiocarcinoma	Associate	40527032
Chromosomal Instability	Associate	36142413
Chronobiology Disorders	Associate	19940360
Colonic Neoplasms	Associate	31040202
Colorectal Neoplasms	Associate	28049506
Constriction Pathologic	Associate	14644861
Coronary Disease	Associate	34347013
Deafness	Associate	16033917, 30682115
Developmental Dysplasia of the Hip	Associate	32396528
DNA Repair Deficiency Disorders	Associate	36883553, 37129948, 38124367
Drug Hypersensitivity	Inhibit	30982887
Drug Related Side Effects and Adverse Reactions	Associate	18603276, 26340617, 31995555
Eccrine Porocarcinoma	Associate	34045664
Endometrial Neoplasms	Associate	35725817
Fatigue	Associate	28300138
Fetal Diseases	Associate	31299979
Fever	Inhibit	28574821
Fibrocartilaginous embolism	Associate	33536009
Fibrochondrogenesis	Associate	22246659
Gallbladder Neoplasms	Associate	29513793
Genetic Diseases Inborn	Associate	10677296
Glioblastoma	Associate	24356817, 36076555
Hearing Loss	Associate	35363175
Hearing Loss Conductive	Associate	24378291
Hearing Loss Sensorineural	Associate	21208667
Hereditary Breast and Ovarian Cancer Syndrome	Associate	28765325, 35642638, 35893033
Hypothermia	Inhibit	19596001
Hypoxia	Inhibit	18366759
Immunologic Deficiency Syndromes	Associate	34019811
Insulin Resistance	Associate	27477082
Intervertebral Disc Degeneration	Associate	16133074, 30548218, 33536009
Intervertebral disc disease	Associate	30548218
Leukemia Lymphoma Adult T Cell	Associate	30782173
Leukemia Myeloid Acute	Associate	29339439, 35273342
Lumbar Stenosis Familial	Associate	14644861
Lymphoma B Cell	Associate	36012375
Lymphoma Large B Cell Diffuse	Associate	21148756
Lymphoma Non Hodgkin	Associate	21148756
Lymphoma Primary Effusion	Associate	36012375
Lymphoproliferative Disorders	Associate	22868923
Malignant hyperthermia susceptibility type 1	Associate	32486089
Megaepiphyseal dwarfism	Associate	10677296, 21208667, 33348901, 9188673
Mesothelioma	Associate	32004714
Metabolic Syndrome	Associate	28219716
Mitochondrial Diseases	Associate	30139961
Mouth Neoplasms	Associate	36849997
Multiple Myeloma	Associate	30301882
Myelodysplastic Syndromes	Associate	35273342
Nasopharyngeal Carcinoma	Associate	25337187, 30717758
Necrosis	Associate	26312527, 29075784
Neoplasm Metastasis	Associate	31685261, 36941406
Neoplasms	Associate	22253870, 24099794, 24356817, 26798410, 29654063, 30111871, 30833416, 30889466, 31186408, 32049041, 32127357, 34257602, 34363951, 34718742, 34897998 View all (13 more)
Neoplasms	Inhibit	34593815
Neuroblastoma	Associate	37020276
Nonsyndromic Deafness	Associate	23990876, 9382104
Nonsyndromic sensorineural hearing loss	Associate	16033917
Obesity	Associate	28219716
Orofacial Cleft 1	Associate	28603561, 37350193
Ossification of Posterior Longitudinal Ligament	Associate	11341341, 14644861
Ossification of the posterior longitudinal ligament of the spine	Associate	10234570, 27246988, 35363175
Osteoarthritis	Associate	26973327, 31173883, 35363175
Osteoarthritis Knee	Associate	15922184, 28741447
Osteosarcoma	Associate	20225287
Ovarian Neoplasms	Associate	25499884, 28497333, 32193378, 33352723, 33722571, 34363951, 35200549, 35642638, 35964058, 36142413, 36224341, 36969741
Pain	Associate	28741447
Pancreatic Neoplasms	Associate	38194775
Patellofemoral Pain Syndrome	Associate	28741447
Post Infectious Disorders	Associate	22303462
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	34695805
Prostatic Neoplasms	Associate	25127709, 26026052, 28415632, 28450425, 30833416, 31232159, 31796516, 32071115, 32127357, 33012578, 34045297, 34897998, 35131040, 36650183, 37170264, 39577422 View all (1 more)
Prostatic Neoplasms Castration Resistant	Associate	31796516, 32086346, 39577422
Prostatitis	Associate	32127357
Recombinant chromosome 8 syndrome	Associate	31499327, 32164626, 33352687, 36048535, 38039432, 39844055
Small Cell Lung Carcinoma	Associate	28212573, 33339368
Stickler syndrome type 1	Associate	22522174, 32558342, 33348901, 33570243, 34405586, 9188673
Stickler syndrome type 2	Associate	33348901
Stomach Neoplasms	Associate	17007014, 26511885, 35000531, 37129948
Triple Negative Breast Neoplasms	Associate	22915752, 36941406
Urinary Bladder Neoplasms	Associate	27595989, 32277642
Uterine Cervical Neoplasms	Associate	26439985
Uterine Diseases	Associate	25144715
Uveal melanoma	Associate	28138035

COL11A2 (collagen type XI alpha 2 chain)