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	1301
Gene name	Collagen type XI alpha 1 chain
Gene symbol	COL11A1
Synonyms (NCBI Gene)	CO11A1COLL6DFNA37STL2
Chromosome	1
Chromosome location	1p21.1
Summary	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated wit

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1676486	A>G,T	Benign, risk-factor	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs55821405	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs78046647	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs121912943	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912944	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs140250347	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs141817156	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs141978499	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant, missense variant
rs143651470	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs147247206	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs183130583	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs387906611	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397514455	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs398122828	C>T	Pathogenic	Splice donor variant
rs544663655	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs587782990	A>C,G	Pathogenic	Genic upstream transcript variant, intron variant
rs727503881	C>T	Pathogenic	Splice acceptor variant
rs730882190	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs747787770	T>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs754222130	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs755987732	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs866783525	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs886039743	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs886042653	C>A	Pathogenic	Splice donor variant
rs886042660	CTTGTCACCACC>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs886044242	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs886044244	C>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1057517989	T>-	Pathogenic	Splice acceptor variant
rs1057518666	C>T	Likely-pathogenic, pathogenic	Intron variant
rs1057524237	C>T	Likely-pathogenic, pathogenic	Intron variant
rs1064797115	C>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1343199316	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs1553193910	C>A	Likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1553193913	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1553196233	A>G	Likely-pathogenic	Splice donor variant
rs1553196515	T>A	Likely-pathogenic	Intron variant
rs1553200431	CCTCACCAGATGGGCCAG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1553200868	C>T	Pathogenic	Splice donor variant
rs1553223152	C>T	Likely-pathogenic	Splice donor variant
rs1553227204	->TCT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe insertion
rs1553234339	C>T	Likely-pathogenic	Splice donor variant
rs1557812993	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1557847904	CA>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, splice donor variant
rs1557877041	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1557891760	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1557932876	TGAGGACCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs1570630126	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs1570712875	A>C	Likely-pathogenic	Splice donor variant
rs1570712889	C>T	Pathogenic	Splice donor variant
rs1570740272	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1570877567	TCATACTTACA>-	Pathogenic	Splice donor variant, non coding transcript variant, coding sequence variant, intron variant
rs1571079651	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1571238944	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017414	hsa-miR-335-5p	Microarray	18185580
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq
MIRT2427400	hsa-miR-767-5p	CLIP-seq
MIRT2436278	hsa-miR-129-5p	CLIP-seq
MIRT2436279	hsa-miR-139-5p	CLIP-seq
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2436280	hsa-miR-3065-3p	CLIP-seq
MIRT2436281	hsa-miR-3120-3p	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq
MIRT2436282	hsa-miR-3671	CLIP-seq
MIRT2436283	hsa-miR-3978	CLIP-seq
MIRT2436284	hsa-miR-4496	CLIP-seq
MIRT2436285	hsa-miR-4694-3p	CLIP-seq
MIRT2436286	hsa-miR-607	CLIP-seq
MIRT2427400	hsa-miR-767-5p	CLIP-seq
MIRT2506426	hsa-miR-1193	CLIP-seq
MIRT2506427	hsa-miR-1208	CLIP-seq
MIRT2506428	hsa-miR-1255a	CLIP-seq
MIRT2506429	hsa-miR-1255b	CLIP-seq
MIRT2506430	hsa-miR-1273e	CLIP-seq
MIRT2436278	hsa-miR-129-5p	CLIP-seq
MIRT2506431	hsa-miR-132	CLIP-seq
MIRT2436279	hsa-miR-139-5p	CLIP-seq
MIRT2506432	hsa-miR-144	CLIP-seq
MIRT2506433	hsa-miR-1914	CLIP-seq
MIRT2506434	hsa-miR-212	CLIP-seq
MIRT2506435	hsa-miR-219-1-3p	CLIP-seq
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2506436	hsa-miR-300	CLIP-seq
MIRT2436280	hsa-miR-3065-3p	CLIP-seq
MIRT2436281	hsa-miR-3120-3p	CLIP-seq
MIRT2506437	hsa-miR-3134	CLIP-seq
MIRT2506438	hsa-miR-329	CLIP-seq
MIRT2506439	hsa-miR-339-5p	CLIP-seq
MIRT2506440	hsa-miR-362-3p	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq
MIRT2436282	hsa-miR-3671	CLIP-seq
MIRT2506441	hsa-miR-3690	CLIP-seq
MIRT2506442	hsa-miR-381	CLIP-seq
MIRT2506443	hsa-miR-3941	CLIP-seq
MIRT2436283	hsa-miR-3978	CLIP-seq
MIRT2506444	hsa-miR-4254	CLIP-seq
MIRT2506445	hsa-miR-4428	CLIP-seq
MIRT2506446	hsa-miR-4446-5p	CLIP-seq
MIRT2506447	hsa-miR-4477a	CLIP-seq
MIRT2436284	hsa-miR-4496	CLIP-seq
MIRT2506448	hsa-miR-452	CLIP-seq
MIRT2506449	hsa-miR-466	CLIP-seq
MIRT2506450	hsa-miR-4666-3p	CLIP-seq
MIRT2506451	hsa-miR-4672	CLIP-seq
MIRT2506452	hsa-miR-4676-3p	CLIP-seq
MIRT2436285	hsa-miR-4694-3p	CLIP-seq
MIRT2506453	hsa-miR-4731-3p	CLIP-seq
MIRT2506454	hsa-miR-4755-5p	CLIP-seq
MIRT2506455	hsa-miR-4793-5p	CLIP-seq
MIRT2506456	hsa-miR-4801	CLIP-seq
MIRT2506457	hsa-miR-580	CLIP-seq
MIRT2506458	hsa-miR-587	CLIP-seq
MIRT2506459	hsa-miR-603	CLIP-seq
MIRT2436286	hsa-miR-607	CLIP-seq
MIRT2506460	hsa-miR-670	CLIP-seq
MIRT2427400	hsa-miR-767-5p	CLIP-seq
MIRT2506426	hsa-miR-1193	CLIP-seq
MIRT2506427	hsa-miR-1208	CLIP-seq
MIRT2506428	hsa-miR-1255a	CLIP-seq
MIRT2506429	hsa-miR-1255b	CLIP-seq
MIRT2506430	hsa-miR-1273e	CLIP-seq
MIRT2436278	hsa-miR-129-5p	CLIP-seq
MIRT2506431	hsa-miR-132	CLIP-seq
MIRT2436279	hsa-miR-139-5p	CLIP-seq
MIRT2506432	hsa-miR-144	CLIP-seq
MIRT2506433	hsa-miR-1914	CLIP-seq
MIRT2506434	hsa-miR-212	CLIP-seq
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2506436	hsa-miR-300	CLIP-seq
MIRT2436280	hsa-miR-3065-3p	CLIP-seq
MIRT2436281	hsa-miR-3120-3p	CLIP-seq
MIRT2506437	hsa-miR-3134	CLIP-seq
MIRT2506438	hsa-miR-329	CLIP-seq
MIRT2506439	hsa-miR-339-5p	CLIP-seq
MIRT2506440	hsa-miR-362-3p	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq
MIRT2436282	hsa-miR-3671	CLIP-seq
MIRT2506441	hsa-miR-3690	CLIP-seq
MIRT2506442	hsa-miR-381	CLIP-seq
MIRT2506443	hsa-miR-3941	CLIP-seq
MIRT2436283	hsa-miR-3978	CLIP-seq
MIRT2506444	hsa-miR-4254	CLIP-seq
MIRT2678385	hsa-miR-4320	CLIP-seq
MIRT2506446	hsa-miR-4446-5p	CLIP-seq
MIRT2506447	hsa-miR-4477a	CLIP-seq
MIRT2506448	hsa-miR-452	CLIP-seq
MIRT2506449	hsa-miR-466	CLIP-seq
MIRT2506450	hsa-miR-4666-3p	CLIP-seq
MIRT2506451	hsa-miR-4672	CLIP-seq
MIRT2506452	hsa-miR-4676-3p	CLIP-seq
MIRT2436285	hsa-miR-4694-3p	CLIP-seq
MIRT2506453	hsa-miR-4731-3p	CLIP-seq
MIRT2506454	hsa-miR-4755-5p	CLIP-seq
MIRT2506455	hsa-miR-4793-5p	CLIP-seq
MIRT2506456	hsa-miR-4801	CLIP-seq
MIRT2506457	hsa-miR-580	CLIP-seq
MIRT2506458	hsa-miR-587	CLIP-seq
MIRT2506459	hsa-miR-603	CLIP-seq
MIRT2436286	hsa-miR-607	CLIP-seq
MIRT2506460	hsa-miR-670	CLIP-seq
MIRT2427400	hsa-miR-767-5p	CLIP-seq
MIRT2427396	hsa-miR-29a	CLIP-seq
MIRT2427397	hsa-miR-29b	CLIP-seq
MIRT2427398	hsa-miR-29c	CLIP-seq
MIRT2427399	hsa-miR-3663-3p	CLIP-seq

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Transcription factor	Regulation	Reference
CEBPZ	Repression	12805369

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001502	Process	Cartilage condensation	IEA
GO:0002063	Process	Chondrocyte development	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	NAS	10486316
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005583	Component	Fibrillar collagen trimer	IEA
GO:0005585	Component	Collagen type II trimer	IDA	24113490
GO:0005592	Component	Collagen type XI trimer	IDA	3182841
GO:0005592	Component	Collagen type XI trimer	NAS	10486316, 17876790
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0007601	Process	Visual perception	IMP	8872475, 10573014
GO:0007605	Process	Sensory perception of sound	IMP	10573014
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	28327460, 28675934
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	10486316
GO:0031012	Component	Extracellular matrix	HDA	28327460, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0035989	Process	Tendon development	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0050840	Function	Extracellular matrix binding	NAS	3182841
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IMP	10889003
GO:0051216	Process	Cartilage development	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA

MIM	HGNC	e!Ensembl
120280	2186	ENSG00000060718

P12107

Protein name

Collagen alpha-1(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	112 → 228	Laminin G domain	Domain
PF01391	Collagen	435 → 493	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	527 → 589	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	583 → 643	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	615 → 680	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	634 → 700	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1429 → 1498	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1483 → 1545	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1575 → 1804	Fibrillar collagen C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon.

Sequence

MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGF
CTNRKNSKGSDTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYN
EHGIQQIGVEVGRSPVFLFEDHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIV
DCKKKTTKPLDRSERAIVDTNGITVFGTRILDEEVFEGDIQQFLITGDPKAAYDYCEHYS
PDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKEAESVTEGPTVTEETIAQTEA
NIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDSQRKNSEDTLY
ENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHG
AYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLP
GADGLPGPPGTMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRP
GPVGGPGSSGAKGESGDPGPQGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDR
GFDGLPGLPGDKGHRGERGPQGPPGPPGDDGMRGEDGEIGPRGLPGEAGPRGLLGPRGTP
GAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQGLPGPQGPIGPPGEKGPQGKP
GLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGVRGLKGSKGEK
GEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVP
GLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKP
GPKGTSGGDGPPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKT
GPPGPGGVVGPQGPTGETGPIGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKD
GPAGLRGFPGERGLPGAQGAPGLKGGEGPQGPPGPVGSPGERGSAGTAGPIGLPGRPGPQ
GPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAGSPGEDGDKGEIGEPGQKGSK
GDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGFPGPPGPIGLQ
GLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEA
GNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPP
GEPGPAGQDGVGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAK
GEAGAEGPPGKTGPVGPQGPAGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLP
GLKGDPGSKGEKGHPGLIGLIGPPGEQGEKGDRGLPGTQGSPGAKGDGGIPGPAGPLGPP
GPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPGEVIQPLPILSSKKTRRHTEG
MQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDLQLSHPDFPDG
EYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKL
LSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDE
EMSYDNNPFIKTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVG
PVCFLG

Sequence length

1806

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

1088

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism	Likely pathogenic	rs2101678782	RCV002226908
COL11A1-related disorder	Likely pathogenic; Pathogenic	rs766849561, rs1663311706, rs2101595036, rs2101282041, rs2525063877, rs2524263343, rs2524694574, rs2524264000, rs1662763051, rs2524792669, rs2525015022, rs2524255933, rs2525370664, rs398122828, rs1553193910, rs776004614 View all (1 more)	RCV004738382 RCV004528511 RCV004533996 RCV004538912 RCV004545856 RCV004527923 RCV004527943 RCV004536771 RCV004537095 RCV004545697 RCV004539451 RCV004532019 RCV004736693 RCV003313929 RCV004737861 RCV004556819
Familial cancer of breast	Likely pathogenic	rs1553196233	RCV005898587
Fibrochondrogenesis	Pathogenic	rs730882190, rs387906611, rs1557812993	RCV001804153 RCV001804155 RCV001804156
Fibrochondrogenesis 1	Likely pathogenic; Pathogenic	rs766849561, rs1469787406, rs763199410, rs372419698, rs2101800665, rs755987732, rs1570877567, rs1667208458	RCV002503269 RCV001334963 RCV001535915 RCV001825009 RCV005040348 RCV005036087 RCV000986391 RCV001249607
Hearing impairment	Likely pathogenic	rs1064797115, rs1553196233	RCV001375056 RCV001375057
Hearing loss, autosomal dominant 37	Likely pathogenic; Pathogenic	rs766849561, rs2101794024, rs2100852418, rs763199410, rs372419698, rs2101800665, rs886042653, rs1570781670, rs1064797115, rs1553196233, rs1553193910, rs755987732, rs747787770	RCV002503269 RCV001526390 RCV001806225 RCV001535915 RCV001825009 RCV005040348 RCV003136272 RCV002287209 RCV001449577 RCV001449578 RCV001799515 RCV005036087 RCV000824676
Intervertebral disc disorder	Likely pathogenic; Pathogenic	rs766849561, rs763199410, rs2101800665, rs755987732	RCV002503269 RCV001535915 RCV005040348 RCV005036087
Marshall syndrome	Likely pathogenic; Pathogenic	rs766849561, rs1469787406, rs2100852418, rs763199410, rs372419698, rs2101800665, rs2101038943, rs2525109250, rs2526190236, rs2525370664, rs398122828, rs1553193910, rs755987732, rs1667208458, rs1663313424	RCV002503269 RCV002260151 RCV001806225 RCV001535915 RCV001825009 RCV005040348 RCV000018672 RCV004787086 RCV004555447 RCV004556009 RCV000032995 RCV000624108 RCV005036087 RCV001249607 RCV001253407 RCV001293722
Marshall/Stickler syndrome	Pathogenic	rs121912944	RCV000018671
Neurodevelopmental delay	Likely pathogenic	rs2101678782	RCV002226908
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs886044244	RCV001778881
See cases	Likely pathogenic	rs2101074856	RCV002252913
sporadic abdominal aortic aneurysm	Pathogenic	rs587782990	RCV000144033
Stickler syndrome	Pathogenic	rs2101869722, rs1057517989	RCV006281040 RCV001174947
Stickler syndrome type 2	Likely pathogenic; Pathogenic	rs1665610030, rs766849561, rs1469787406, rs2100852418, rs763199410, rs2101653580, rs372419698, rs2101074868, rs2101800665, rs2101595036, rs2101406339, rs2525581300, rs2524688567, rs2524484819, rs886044244 View all (14 more)	RCV001330656 RCV002503269 RCV005416124 RCV001806225 RCV001535915 RCV001542538 RCV001825009 RCV001619774 RCV005040348 RCV002250987 RCV002272626 RCV003989809 RCV003330334 RCV003315111 RCV004767219 RCV003482200 RCV000018669 RCV003988754 RCV004556009 RCV001542539 RCV002468558 RCV001799515 RCV004767434 RCV000679954 RCV000760162 RCV005036087 RCV000761265 RCV000761264 RCV001249607
Thyroid cancer, nonmedullary, 1	Pathogenic	rs2101066494	RCV005931331

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal recessive Stickler syndrome	Uncertain significance	rs1377996908	RCV005863749
Cervical cancer	Likely benign	rs200309861	RCV005912898
CHEK2-related cancer predisposition	Conflicting classifications of pathogenicity	rs1475867666	RCV005863729
Childhood onset hearing loss	Uncertain significance; Conflicting classifications of pathogenicity	rs1666772918, rs544289862	RCV001328015 RCV001328014
Cholangiocarcinoma	Likely benign; Benign	rs200309861, rs11164653	RCV005912899 RCV005905690
Clear cell carcinoma of kidney	Benign	rs74108036	RCV005914814
Connective tissue disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs371551881, rs748315186, rs772357889, rs772950506, rs187171126, rs147637674, rs71752747, rs141548164, rs78046647, rs36076089, rs112577505, rs55821405, rs140250347, rs139064549, rs371455495 View all (34 more)	RCV002276788 RCV002276883 RCV002278734 RCV002278741 RCV000659324 RCV000680458 RCV002277301 RCV002277395 RCV000680459 RCV002277414 RCV002277415 RCV000659325 RCV000659326 RCV000680455 RCV002277562 RCV002277582 RCV000659319 RCV002278170 RCV000659305 RCV002278320 RCV002278325 RCV002278327 RCV000680462 RCV000659312 RCV002278328 RCV000659308 RCV002278329 RCV002278330 RCV002276556 RCV000680456 RCV000659322 RCV000659313 RCV000659310 RCV002279391 RCV000680460 RCV000659327 RCV000659323 RCV000659321 RCV000659320 RCV000659318 RCV000659317 RCV000659316 RCV000659315 RCV000659314 RCV000659311 RCV000659309 RCV000659306 RCV000680457 RCV000680461 RCV000680463 RCV002279556 RCV002277143
Gastric cancer	Likely benign	rs36076089	RCV005871361
Lumbar disk herniation, susceptibility to	Benign	rs1676486	RCV000018675
Lung cancer	Likely benign	rs200309861, rs77713323	RCV005912900 RCV005916099
Malignant lymphoma, large B-cell, diffuse	Benign	rs4353117, rs11801437, rs11164653	RCV005914664 RCV005924491 RCV005905689
Malignant tumor of esophagus	Likely benign; Benign	rs200309861, rs12135438, rs186245518	RCV005912897 RCV005916639 RCV005892539
Malignant tumor of urinary bladder	Likely benign	rs1665609097	RCV005935000
Meniere disease	Conflicting classifications of pathogenicity; Likely benign	rs775660447, rs142753283, rs140954784, rs141978499, rs149558726, rs141304474	RCV004570890 RCV004571205 RCV004567841 RCV004567844 RCV004567842 RCV004567843
Neurodevelopmental abnormality	Likely benign	rs1658599034	RCV001264682
Osteogenesis imperfecta type III	Uncertain significance	rs1234981157	RCV000860019
Ovarian cancer	Benign	rs74108036	RCV005914813
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs74108036, rs12133536	RCV005914815 RCV005917544
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs367824632, rs749290763, rs1180040869, rs2525014999, rs202065765, rs2524791148, rs199539580	RCV004815572 RCV004815619 RCV004815706 RCV004818290 RCV004816495 RCV004818318 RCV004816520
Sarcoma	Likely benign	rs12133536	RCV005917543
Sensorineural hearing loss disorder	Uncertain significance	rs375443900	RCV001291838
Short stature	Uncertain significance	rs2525388875	RCV003530274
Skeletal dysplasia	Conflicting classifications of pathogenicity	rs56230601	RCV005625277
Squamous cell carcinoma of the head and neck	Conflicting classifications of pathogenicity	rs142753283	RCV005916085
Stickler Syndrome, Dominant	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs71752747, rs36076089, rs532806397, rs34228277, rs748850423, rs35232764, rs781736900, rs886044981, rs886044983	RCV000384516 RCV000288796 RCV000263527 RCV000335457 RCV000389263 RCV000342705 RCV000385822 RCV000347832 RCV000344187 RCV000299923 RCV000388292 RCV000380527 RCV000308603 RCV000298954 RCV000264210
Thymoma	Benign	rs12135438	RCV005916641
Uterine carcinosarcoma	Benign	rs4353117, rs12135438, rs2622868	RCV005914665 RCV005916640 RCV005922968
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs200309861, rs77713323, rs12133536, rs11164653	RCV005912901 RCV005916100 RCV005917545 RCV005905691

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ovarian Neoplasms	Associate	32312965

COL11A1 (collagen type XI alpha 1 chain)