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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1301
Gene name Gene Name - the full gene name approved by the HGNC.	Collagen type XI alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COL11A1
Synonyms (NCBI Gene) Gene synonyms aliases	CO11A1, COLL6, DFNA37, STL2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DFNA37, STL2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p21.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

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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:0001503	Process	Ossification	IEA
GO:0002063	Process	Chondrocyte development	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	NAS	10486316
GO:0005576	Component	Extracellular region	TAS
GO:0005592	Component	Collagen type XI trimer	IBA	21873635
GO:0005592	Component	Collagen type XI trimer	IDA	3182841
GO:0005592	Component	Collagen type XI trimer	NAS	10486316
GO:0005615	Component	Extracellular space	IBA	21873635
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:0008201	Function	Heparin binding	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	28327460, 28675934
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	NAS	10486316
GO:0030199	Process	Collagen fibril organization	NAS	3182841
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	10486316
GO:0031012	Component	Extracellular matrix	IBA	21873635
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:0050840	Function	Extracellular matrix binding	NAS	3182841
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IMP	10889003
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28327460, 28675934
GO:1904399	Function	Heparan sulfate binding	IEA

MIM	HGNC	e!Ensembl
120280	2186	ENSG00000060718

Protein

UniProt ID

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

Show/Hide Causal Diseases (30)

Disease term	Disease name	dbSNP ID	References
Causal
Achromatopsia	Achromatopsia 3	rs121918344, rs267606739, rs397515360, rs121918537, rs121918538, rs786200908, rs796051871, rs121918539, rs387906401, rs267606936, rs786200909, rs786200910, rs267606934, rs267606937, rs267606935 View all (196 more)	8872475
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	30664745
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Connective tissue disease	Connective Tissue Diseases	rs5742905, rs80338688, rs80356506, rs104894800, rs104894948, rs28931614, rs121913482, rs28933068, rs121913483, rs137854464, rs121912870, rs387906980, rs587777352, rs527236145, rs189754995 View all (12 more)
Ectopia lentis	Ectopia Lentis	rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806
Epiphyseal dysplasia	Epiphyseal dysplasia	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817
Fibrochondrogenesis	Fibrochondrogenesis, FIBROCHONDROGENESIS 1	rs730882190, rs387906611, rs1557812993, rs2147483647, rs1570877567, rs1583335192	21035103, 8872475
Glaucoma	Glaucoma, Glaucoma, Open-Angle	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)	22922875, 29891935
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819 View all (18 more)
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699 View all (13 more)	29266176
Marshall syndrome	Marshall syndrome	rs121912944, rs2101038943, rs398122828, rs1553193910	17236192, 9529347, 8872475
Melnick-needles syndrome	Melnick-Needles Syndrome	rs28935472, rs28935473	19638309
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	21668896, 25240749, 19449424, 17236192, 21035103, 9529347
Multiple epiphyseal dysplasia	Multiple Epiphyseal Dysplasia	rs786200881, rs104893915, rs104893919, rs104893916, rs386833492, rs104893924, rs104893645, rs104893637, rs28939677, rs104893641, rs137852654, rs193922900, rs137852655, rs869320730, rs28936368 View all (58 more)	19638309
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061	19638309
Pierre-robin syndrome	Pierre Robin Syndrome	rs1057519389, rs1057518986
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Retinitis pigmentosa	RETINITIS PIGMENTOSA 45	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)	8872475
Schwartz-jampel syndrome	Schwartz-Jampel Syndrome	rs886039909, rs927473035, rs1572304438, rs1572356343	19638309
Spondyloenchondrodysplasia	Spondyloepiphyseal Dysplasia Tarda, X-Linked	rs121908616, rs267606734, rs121908617, rs121908618, rs1589509884, rs121908619, rs121908620, rs145538723, rs267606733, rs267606732, rs587776752, rs121912870, rs121912871, rs121912875, rs121912880 View all (39 more)	19638309
Spondyloepiphyseal dysplasia	Spondyloepiphyseal Dysplasia	rs72555367, rs121908950, rs121908951, rs121908952, rs104893637, rs104893639, rs387906534, rs121913568, rs606231241, rs606231242, rs786200933, rs606231243, rs786200934, rs397515546, rs797045099 View all (10 more)	19638309
Stickler syndrome	STICKLER SYNDROME, TYPE II (disorder), Stickler syndrome, type 1, Autosomal recessive Stickler syndrome, Stickler syndrome type 2	rs121912943, rs121912931, rs121912866, rs2136528572, rs121912869, rs121912870, rs121912872, rs121912873, rs121912876, rs794727377, rs2136508504, rs2136577259, rs121912882, rs1057524696, rs121912884 View all (57 more)	20513134, 8872475, 10486316, 11668615, 27081569, 17236192, 10725403
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 View all (614 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Deafness	hearing loss, autosomal dominant 37	GenCC
Metabolic Syndrome	Metabolic Syndrome	GWAS
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	GWAS
Mental Depression	Mental Depression	GWAS
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining
Ovarian Neoplasms	Associate	32312965

COL11A1 (collagen type XI alpha 1 chain)