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.	1302
Gene name Gene Name - the full gene name approved by the HGNC.	Collagen type XI alpha 2 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COL11A2
Synonyms (NCBI Gene) Gene synonyms aliases	DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DFNA13, DFNB53, FBCG2, OSMEDA, OSMEDB
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.32
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. 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

Transcription factors

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(25)

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	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17703188
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IBA	21873635
GO:0005592	Component	Collagen type XI trimer	NAS	7859284, 8838804
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007605	Process	Sensory perception of sound	IBA	21873635
GO:0007605	Process	Sensory perception of sound	IMP	9188673, 10581026, 10677296, 16033917
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
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:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030199	Process	Collagen fibril organization	IBA	21873635
GO:0030199	Process	Collagen fibril organization	IDA	9188673
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	10677296
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0051216	Process	Cartilage development	IBA	21873635
GO:0051216	Process	Cartilage development	IMP	9188673
GO:0060021	Process	Roof of mouth development	IMP	12673280
GO:0060023	Process	Soft palate development	IMP	10677296
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28344315, 28675934

MIM	HGNC	e!Ensembl
120290	2187	ENSG00000204248

Protein

UniProt ID

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

Show/Hide Causal Diseases (17)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 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)	22246659
Deafness	Deafness, Autosomal Recessive 53, Deafness, Autosomal Dominant 13	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822 View all (1019 more)	14234962, 25633957, 9805126, 16033917, 15372529, 10581026
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Epiphyseal dysplasia	Epiphyseal dysplasia	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817
Fibrochondrogenesis	Fibrochondrogenesis, FIBROCHONDROGENESIS 2	rs730882190, rs387906611, rs1557812993, rs2147483647, rs1570877567, rs1583335192	22246659, 9805126
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder), Sensory hearing loss, Hearing Loss, Mixed Conductive-Sensorineural	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)	16637051
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	2760050, 9805126, 10581026, 10486316, 7859284, 813535, 9188673, 9506662, 21671392, 22246659, 10353778, 10677296, 10733181, 8838804, 16637051, 16033917, 2463256 View all (2 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	10581026, 25633957, 19486694, 26445815, 16033917, 15141750
Otospondylomegaepiphyseal dysplasia	Otospondylomegaepiphyseal dysplasia, Autosomal dominant otospondylomegaepiphyseal dysplasia	rs750995470, rs121912945, rs864309477, rs121912946, rs121912949, rs121912950, rs121912951, rs1562315748, rs886044584, rs1554220864, rs1565683138, rs1583287711, rs1481453913, rs1045330263, rs1583351636, rs1583394539, rs1583335192 View all (2 more)	22796475, 16637051, 21438135, 15558753, 10677296, 15141750, 15372529, 11668593, 21208667, 7859284, 9805126, 25780254, 14234962, 22246659, 9506662, 19486694, 15922184, 21204229 View all (3 more)
Pierre-robin syndrome	Pierre Robin Syndrome, Pierre Robin syndrome with fetal chondrodysplasia	rs1057519389, rs1057518986	15372529, 9506662, 10677296, 21208667, 21204229, 11668593, 14234962, 7859284, 25780254, 15922184, 16637051, 9805126, 19486694, 15141750, 22246659, 15558753, 22796475 View all (2 more)
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	17804836, 19503088
Stickler syndrome	Stickler syndrome, type 3	rs121912943, rs121912931, rs121912866, rs2136528572, rs121912869, rs121912870, rs121912872, rs121912873, rs121912876, rs794727377, rs2136508504, rs2136577259, rs121912882, rs1057524696, rs121912884 View all (57 more)	15372529
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (6)

Disease term	Disease name	References	Source
Unknown
Coronary heart disease	Coronary heart disease	21347282	ClinVar
Otospondylomegaepiphyseal Dysplasia	otospondylomegaepiphyseal dysplasia, autosomal dominant, otospondylomegaepiphyseal dysplasia, autosomal recessive		GenCC
Asthma	Asthma		GWAS
Hypothyroidism	Hypothyroidism		GWAS
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome		GWAS
Psoriasis	Psoriasis		GWAS

Show/Hide Text Mining Associations (92)

Disease Name	Relationship Type	References
Associations from Text Mining
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)