MCID: OTS002
MIFTS: 41

Otospondylomegaepiphyseal Dysplasia

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Otospondylomegaepiphyseal Dysplasia

MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia:

Name: Otospondylomegaepiphyseal Dysplasia 12 77 26 30 13 6 15
Chondrodystrophy with Sensorineural Deafness 12 26
Oto-Spondylo-Megaepiphyseal Dysplasia 26 38
Nance-Sweeney Chondrodysplasia 12 26
Nance-Insley Syndrome 12 26
Dysplasia, Otospondylomegaepiphyseal 41
Mega-Epiphyseal Dwarfism 26
Megaepiphyseal Dwarfism 74
Insley-Astley Syndrome 26
Osmed 26

Classifications:



Summaries for Otospondylomegaepiphyseal Dysplasia

Genetics Home Reference : 26 Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The term "otospondylomegaepiphyseal" refers to the parts of the body that this condition affects: the ears (oto-), the bones of the spine (spondylo-), and the ends (epiphyses) of long bones in the arms and legs. The features of this condition significantly overlap those of two similar conditions, Weissenbacher-Zweym├╝ller syndrome and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell the conditions apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.

MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, also known as chondrodystrophy with sensorineural deafness, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and otospondylomegaepiphyseal dysplasia, autosomal dominant, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include bone, skin and epiphysis in, and related phenotypes are malar flattening and joint stiffness

Disease Ontology : 12 An osteochondrodysplasia that results from mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss.

Wikipedia : 77 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that... more...

Related Diseases for Otospondylomegaepiphyseal Dysplasia

Diseases in the Otospondylomegaepiphyseal Dysplasia family:

Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

Diseases related to Otospondylomegaepiphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 47, show less)
# Related Disease Score Top Affiliating Genes
1 otospondylomegaepiphyseal dysplasia, autosomal recessive 33.8 COL11A2 COL2A1
2 otospondylomegaepiphyseal dysplasia, autosomal dominant 33.4 COL11A1 COL11A2 COL2A1
3 osteoarthritis 29.6 COL11A2 COL2A1
4 stickler syndrome 29.2 COL11A1 COL11A2 COL2A1
5 megaepiphyseal dwarfism 11.2
6 stickler syndrome, type i 10.5
7 melanoma 10.3
8 breast cancer 10.2
9 leukemia 10.2
10 autosomal recessive disease 10.1
11 helix syndrome 10.1
12 rere-related disorders 10.1
13 fibrochondrogenesis 10.0 COL11A1 COL11A2
14 systemic lupus erythematosus 9.9
15 myeloma, multiple 9.9
16 asthma 9.9
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
18 burns 9.9
19 sarcoma 9.9
20 vogt-koyanagi-harada disease 9.9
21 in situ carcinoma 9.9
22 breast carcinoma in situ 9.9
23 skin melanoma 9.9
24 irritable bowel syndrome 9.9
25 glioma 9.9
26 mediastinal endodermal sinus tumors 9.9
27 stickler syndrome, type 3 9.9
28 streptococcal group a invasive disease 9.9
29 marshall syndrome 9.9 COL11A1 COL2A1
30 vitreous syneresis 9.9 COL11A1 COL2A1
31 macroglossia 9.9 COL11A1 COL2A1
32 vitreoretinal dystrophy 9.8 COL11A1 COL2A1
33 vitreoretinal degeneration 9.8 COL11A1 COL2A1
34 achondrogenesis, type ii 9.8 COL11A1 COL2A1
35 kniest dysplasia 9.8 COL11A1 COL2A1
36 hypochondrogenesis 9.8 COL11A1 COL2A1
37 donnai-barrow syndrome 9.8 COL11A1 COL2A1
38 spondyloepiphyseal dysplasia congenita 9.8 COL11A1 COL2A1
39 spinal stenosis 9.7 COL11A2 COL2A1
40 retinal detachment 9.7 COL11A1 COL2A1
41 campomelic dysplasia 9.7 COL11A2 COL2A1
42 multiple epiphyseal dysplasia 9.7 COL11A2 COL2A1
43 strabismus 9.7 COL11A1 COL2A1
44 retinal perforation 9.5 COL11A1 COL11A2 COL2A1
45 cleft palate, isolated 9.5 COL11A1 COL11A2 COL2A1
46 sensorineural hearing loss 9.5 COL11A1 COL11A2 COL2A1
47 myopia 9.5 COL11A1 COL2A1

Graphical network of the top 20 diseases related to Otospondylomegaepiphyseal Dysplasia:



Diseases related to Otospondylomegaepiphyseal Dysplasia

Symptoms & Phenotypes for Otospondylomegaepiphyseal Dysplasia

Human phenotypes related to Otospondylomegaepiphyseal Dysplasia:

33 (showing 18, show less)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 hallmark (90%) HP:0000272
2 joint stiffness 33 hallmark (90%) HP:0001387
3 sensorineural hearing impairment 33 hallmark (90%) HP:0000407
4 anteverted nares 33 hallmark (90%) HP:0000463
5 cleft palate 33 hallmark (90%) HP:0000175
6 abnormality of the metaphysis 33 hallmark (90%) HP:0000944
7 platyspondyly 33 hallmark (90%) HP:0000926
8 micromelia 33 hallmark (90%) HP:0002983
9 depressed nasal ridge 33 hallmark (90%) HP:0000457
10 kyphosis 33 frequent (33%) HP:0002808
11 hyperlordosis 33 frequent (33%) HP:0003307
12 feeding difficulties in infancy 33 frequent (33%) HP:0008872
13 recurrent pneumonia 33 frequent (33%) HP:0006532
14 abnormality of the skin 33 frequent (33%) HP:0000951
15 strabismus 33 occasional (7.5%) HP:0000486
16 ventricular septal defect 33 occasional (7.5%) HP:0001629
17 synostosis of carpal bones 33 occasional (7.5%) HP:0005048
18 abnormal lacrimal duct morphology 33 occasional (7.5%) HP:0011481

UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia:


arthralgia

MGI Mouse Phenotypes related to Otospondylomegaepiphyseal Dysplasia:

47 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 COL11A1 COL11A2 COL2A1
2 hearing/vestibular/ear MP:0005377 9.13 COL11A1 COL11A2 COL2A1
3 skeleton MP:0005390 8.8 COL11A1 COL11A2 COL2A1

Drugs & Therapeutics for Otospondylomegaepiphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Otospondylomegaepiphyseal Dysplasia

Genetic Tests for Otospondylomegaepiphyseal Dysplasia

Genetic tests related to Otospondylomegaepiphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Otospondylomegaepiphyseal Dysplasia 30 COL11A2

Anatomical Context for Otospondylomegaepiphyseal Dysplasia

MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia:

42
Bone, Skin

The Foundational Model of Anatomy Ontology organs/tissues related to Otospondylomegaepiphyseal Dysplasia:

20
Epiphysis In, Foot

Publications for Otospondylomegaepiphyseal Dysplasia

Articles related to Otospondylomegaepiphyseal Dysplasia:

(showing 9, show less)
# Title Authors Year
1
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. ( 21208667 )
2011
2
Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene. ( 18381781 )
2008
3
Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia. ( 18846651 )
2008
4
Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. ( 16637051 )
2006
5
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). ( 15558753 )
2005
6
Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). ( 11668593 )
2001
7
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. ( 10677296 )
2000
8
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. ( 9188673 )
1997
9
Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature. ( 8205326 )
1994

Variations for Otospondylomegaepiphyseal Dysplasia

ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia:

6 (showing 214, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh37 Chromosome 6, 33144993: 33144993
2 COL11A2 NM_080680.2(COL11A2): c.1981G> A (p.Gly661Arg) single nucleotide variant Pathogenic rs121912945 GRCh38 Chromosome 6, 33177216: 33177216
3 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh37 Chromosome 6, 33141825: 33141825
4 COL11A2 NM_080680.2(COL11A2): c.2492C> A (p.Ser831Ter) single nucleotide variant Pathogenic rs121912949 GRCh38 Chromosome 6, 33174048: 33174048
5 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh37 Chromosome 6, 33135599: 33135599
6 COL11A2 NM_080680.2(COL11A2): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs121912951 GRCh38 Chromosome 6, 33167822: 33167822
7 COL11A2 NM_080680.2(COL11A2): c.3962delG (p.Gly1321Valfs) deletion Pathogenic GRCh38 Chromosome 6, 33167851: 33167851
8 COL11A2 NM_080680.2(COL11A2): c.3962delG (p.Gly1321Valfs) deletion Pathogenic GRCh37 Chromosome 6, 33135628: 33135628
9 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh37 Chromosome 6, 33148878: 33148878
10 COL11A2 NM_080680.2(COL11A2): c.1179+10G> A single nucleotide variant Benign rs2744507 GRCh38 Chromosome 6, 33181101: 33181101
11 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh37 Chromosome 6, 33147589: 33147589
12 COL11A2 NM_080680.2(COL11A2): c.1360-7A> C single nucleotide variant Benign rs3129201 GRCh38 Chromosome 6, 33179812: 33179812
13 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh37 Chromosome 6, 33146747: 33146747
14 COL11A2 NM_080680.2(COL11A2): c.1615C> T (p.Arg539Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145499142 GRCh38 Chromosome 6, 33178970: 33178970
15 COL11A2 NM_080680.2(COL11A2): c.1782C> T (p.Asp594=) single nucleotide variant Benign/Likely benign rs41266697 GRCh37 Chromosome 6, 33146121: 33146121
16 COL11A2 NM_080680.2(COL11A2): c.1782C> T (p.Asp594=) single nucleotide variant Benign/Likely benign rs41266697 GRCh38 Chromosome 6, 33178344: 33178344
17 COL11A2 NM_080680.2(COL11A2): c.2136A> T (p.Gly712=) single nucleotide variant Benign rs1799908 GRCh37 Chromosome 6, 33144243: 33144243
18 COL11A2 NM_080680.2(COL11A2): c.2136A> T (p.Gly712=) single nucleotide variant Benign rs1799908 GRCh38 Chromosome 6, 33176466: 33176466
19 COL11A2 NM_080680.2(COL11A2): c.2520G> A (p.Arg840=) single nucleotide variant Benign/Likely benign rs117237998 GRCh37 Chromosome 6, 33141797: 33141797
20 COL11A2 NM_080680.2(COL11A2): c.2520G> A (p.Arg840=) single nucleotide variant Benign/Likely benign rs117237998 GRCh38 Chromosome 6, 33174020: 33174020
21 COL11A2 NM_080680.2(COL11A2): c.2628+3G> A single nucleotide variant Benign rs970901 GRCh37 Chromosome 6, 33141475: 33141475
22 COL11A2 NM_080680.2(COL11A2): c.2628+3G> A single nucleotide variant Benign rs970901 GRCh38 Chromosome 6, 33173698: 33173698
23 COL11A2 NM_080680.2(COL11A2): c.2681C> T (p.Pro894Leu) single nucleotide variant Benign rs2855430 GRCh37 Chromosome 6, 33141280: 33141280
24 COL11A2 NM_080680.2(COL11A2): c.2681C> T (p.Pro894Leu) single nucleotide variant Benign rs2855430 GRCh38 Chromosome 6, 33173503: 33173503
25 COL11A2 NM_080680.2(COL11A2): c.2700T> C (p.Asp900=) single nucleotide variant Benign rs2229785 GRCh37 Chromosome 6, 33141161: 33141161
26 COL11A2 NM_080680.2(COL11A2): c.2700T> C (p.Asp900=) single nucleotide variant Benign rs2229785 GRCh38 Chromosome 6, 33173384: 33173384
27 COL11A2 NM_080680.2(COL11A2): c.3150+15A> C single nucleotide variant Benign rs2855436 GRCh37 Chromosome 6, 33139475: 33139475
28 COL11A2 NM_080680.2(COL11A2): c.3150+15A> C single nucleotide variant Benign rs2855436 GRCh38 Chromosome 6, 33171698: 33171698
29 COL11A2 NM_080680.2(COL11A2): c.3174G> A (p.Pro1058=) single nucleotide variant Benign rs1799910 GRCh37 Chromosome 6, 33139328: 33139328
30 COL11A2 NM_080680.2(COL11A2): c.3174G> A (p.Pro1058=) single nucleotide variant Benign rs1799910 GRCh38 Chromosome 6, 33171551: 33171551
31 COL11A2 NM_080680.2(COL11A2): c.3313-11C> T single nucleotide variant Benign rs2855437 GRCh37 Chromosome 6, 33138955: 33138955
32 COL11A2 NM_080680.2(COL11A2): c.3313-11C> T single nucleotide variant Benign rs2855437 GRCh38 Chromosome 6, 33171178: 33171178
33 COL11A2 NM_080680.2(COL11A2): c.3946C> A (p.Pro1316Thr) single nucleotide variant Benign rs2229784 GRCh37 Chromosome 6, 33136310: 33136310
34 COL11A2 NM_080680.2(COL11A2): c.3946C> A (p.Pro1316Thr) single nucleotide variant Benign rs2229784 GRCh38 Chromosome 6, 33168533: 33168533
35 COL11A2 NM_080680.2(COL11A2): c.5165C> T (p.Pro1722Leu) single nucleotide variant Benign/Likely benign rs2229792 GRCh37 Chromosome 6, 33131501: 33131501
36 COL11A2 NM_080680.2(COL11A2): c.5165C> T (p.Pro1722Leu) single nucleotide variant Benign/Likely benign rs2229792 GRCh38 Chromosome 6, 33163724: 33163724
37 COL11A2 NM_080680.2(COL11A2): c.826G> A (p.Glu276Lys) single nucleotide variant Benign rs9277934 GRCh37 Chromosome 6, 33153528: 33153528
38 COL11A2 NM_080680.2(COL11A2): c.826G> A (p.Glu276Lys) single nucleotide variant Benign rs9277934 GRCh38 Chromosome 6, 33185751: 33185751
39 COL11A2 NM_080680.2(COL11A2): c.877-4T> A single nucleotide variant Benign rs1799907 GRCh37 Chromosome 6, 33152835: 33152835
40 COL11A2 NM_080680.2(COL11A2): c.877-4T> A single nucleotide variant Benign rs1799907 GRCh38 Chromosome 6, 33185058: 33185058
41 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh38 Chromosome 6, 33163674: 33163674
42 COL11A2 NM_080680.2(COL11A2): c.*4C> T single nucleotide variant Benign/Likely benign rs186720023 GRCh37 Chromosome 6, 33131451: 33131451
43 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh38 Chromosome 6, 33164453: 33164453
44 COL11A2 NM_080680.2(COL11A2): c.4884G> C (p.Glu1628Asp) single nucleotide variant Benign/Likely benign rs2229790 GRCh37 Chromosome 6, 33132230: 33132230
45 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh38 Chromosome 6, 33164916: 33164916
46 COL11A2 NM_080680.2(COL11A2): c.4799G> A (p.Arg1600Gln) single nucleotide variant Benign/Likely benign rs1799912 GRCh37 Chromosome 6, 33132693: 33132693
47 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh37 Chromosome 6, 33133393: 33133393
48 COL11A2 NM_080680.2(COL11A2): c.4683A> G (p.Thr1561=) single nucleotide variant Likely benign rs34055850 GRCh38 Chromosome 6, 33165616: 33165616
49 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
50 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
51 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Conflicting interpretations of pathogenicity rs147576338 GRCh38 Chromosome 6, 33170067: 33170067
52 COL11A2 NM_080680.2(COL11A2): c.3616C> T (p.Leu1206=) single nucleotide variant Conflicting interpretations of pathogenicity rs147576338 GRCh37 Chromosome 6, 33137844: 33137844
53 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh38 Chromosome 6, 33170332: 33170332
54 COL11A2 NM_080680.2(COL11A2): c.3576C> T (p.Gly1192=) single nucleotide variant Likely benign rs138380958 GRCh37 Chromosome 6, 33138109: 33138109
55 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh37 Chromosome 6, 33144064: 33144064
56 COL11A2 NM_080680.2(COL11A2): c.2186G> A (p.Arg729Gln) single nucleotide variant Benign/Likely benign rs61730262 GRCh38 Chromosome 6, 33176287: 33176287
57 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh37 Chromosome 6, 33148107: 33148107
58 COL11A2 NM_080680.2(COL11A2): c.1287C> T (p.Gly429=) single nucleotide variant Likely benign rs549704545 GRCh38 Chromosome 6, 33180330: 33180330
59 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh37 Chromosome 6, 33156845: 33156845
60 COL11A2 NM_080680.2(COL11A2): c.353G> C (p.Arg118Pro) single nucleotide variant Likely benign rs41268014 GRCh38 Chromosome 6, 33189068: 33189068
61 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh38 Chromosome 6, 33164337: 33164337
62 COL11A2 NM_080680.2(COL11A2): c.5000G> A (p.Arg1667His) single nucleotide variant Benign/Likely benign rs146555195 GRCh37 Chromosome 6, 33132114: 33132114
63 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh37 Chromosome 6, 33133555: 33133555
64 COL11A2 NM_080680.2(COL11A2): c.4521G> A (p.Gln1507=) single nucleotide variant Benign/Likely benign rs114580597 GRCh38 Chromosome 6, 33165778: 33165778
65 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh38 Chromosome 6, 33165955: 33165955
66 COL11A2 NM_080680.2(COL11A2): c.4458T> A (p.Gly1486=) single nucleotide variant Benign/Likely benign rs143186319 GRCh37 Chromosome 6, 33133732: 33133732
67 COL11A2 NM_080680.2(COL11A2): c.4040C> A (p.Pro1347Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142890313 GRCh37 Chromosome 6, 33135285: 33135285
68 COL11A2 NM_080680.2(COL11A2): c.4040C> A (p.Pro1347Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142890313 GRCh38 Chromosome 6, 33167508: 33167508
69 COL11A2 NM_080680.2(COL11A2): c.2921C> T (p.Ala974Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376797260 GRCh38 Chromosome 6, 33172356: 33172356
70 COL11A2 NM_080680.2(COL11A2): c.2921C> T (p.Ala974Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376797260 GRCh37 Chromosome 6, 33140133: 33140133
71 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh37 Chromosome 6, 33143391: 33143391
72 COL11A2 NM_080680.2(COL11A2): c.2336C> T (p.Pro779Leu) single nucleotide variant Benign/Likely benign rs150877886 GRCh38 Chromosome 6, 33175614: 33175614
73 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh37 Chromosome 6, 33139529: 33139529
74 COL11A2 NM_080680.2(COL11A2): c.3111G> T (p.Pro1037=) single nucleotide variant Benign/Likely benign rs146093235 GRCh38 Chromosome 6, 33171752: 33171752
75 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh37 Chromosome 6, 33137259: 33137259
76 COL11A2 NM_080680.2(COL11A2): c.3699C> T (p.Arg1233=) single nucleotide variant Benign/Likely benign rs151098305 GRCh38 Chromosome 6, 33169482: 33169482
77 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh37 Chromosome 6, 33133424: 33133424
78 COL11A2 NM_080680.2(COL11A2): c.4652G> A (p.Arg1551Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs145343609 GRCh38 Chromosome 6, 33165647: 33165647
79 COL11A2 NM_080680.2(COL11A2): c.889G> A (p.Gly297Ser) single nucleotide variant Uncertain significance rs139116571 GRCh37 Chromosome 6, 33152819: 33152819
80 COL11A2 NM_080680.2(COL11A2): c.889G> A (p.Gly297Ser) single nucleotide variant Uncertain significance rs139116571 GRCh38 Chromosome 6, 33185042: 33185042
81 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh37 Chromosome 6, 33154514: 33154514
82 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh38 Chromosome 6, 33186737: 33186737
83 COL11A2 NM_080680.2(COL11A2): c.5071-5T> G single nucleotide variant Benign/Likely benign rs368309085 GRCh37 Chromosome 6, 33131600: 33131600
84 COL11A2 NM_080680.2(COL11A2): c.5071-5T> G single nucleotide variant Benign/Likely benign rs368309085 GRCh38 Chromosome 6, 33163823: 33163823
85 COL11A2 NM_080680.2(COL11A2): c.4751-9A> G single nucleotide variant Likely benign rs555680585 GRCh38 Chromosome 6, 33164973: 33164973
86 COL11A2 NM_080680.2(COL11A2): c.4751-9A> G single nucleotide variant Likely benign rs555680585 GRCh37 Chromosome 6, 33132750: 33132750
87 COL11A2 NM_080680.2(COL11A2): c.4392+12C> T single nucleotide variant Benign/Likely benign rs117267045 GRCh37 Chromosome 6, 33134278: 33134278
88 COL11A2 NM_080680.2(COL11A2): c.4392+12C> T single nucleotide variant Benign/Likely benign rs117267045 GRCh38 Chromosome 6, 33166501: 33166501
89 COL11A2 NM_080680.2(COL11A2): c.4383C> T (p.Pro1461=) single nucleotide variant Benign/Likely benign rs148262058 GRCh38 Chromosome 6, 33166522: 33166522
90 COL11A2 NM_080680.2(COL11A2): c.4383C> T (p.Pro1461=) single nucleotide variant Benign/Likely benign rs148262058 GRCh37 Chromosome 6, 33134299: 33134299
91 COL11A2 NM_080680.2(COL11A2): c.4041G> A (p.Pro1347=) single nucleotide variant Benign/Likely benign rs139283268 GRCh37 Chromosome 6, 33135284: 33135284
92 COL11A2 NM_080680.2(COL11A2): c.4041G> A (p.Pro1347=) single nucleotide variant Benign/Likely benign rs139283268 GRCh38 Chromosome 6, 33167507: 33167507
93 COL11A2 NM_080680.2(COL11A2): c.3615C> A (p.Asn1205Lys) single nucleotide variant Benign/Likely benign rs141967872 GRCh37 Chromosome 6, 33137845: 33137845
94 COL11A2 NM_080680.2(COL11A2): c.3615C> A (p.Asn1205Lys) single nucleotide variant Benign/Likely benign rs141967872 GRCh38 Chromosome 6, 33170068: 33170068
95 COL11A2 NM_080680.2(COL11A2): c.3384C> T (p.Pro1128=) single nucleotide variant Benign rs1799911 GRCh37 Chromosome 6, 33138677: 33138677
96 COL11A2 NM_080680.2(COL11A2): c.3384C> T (p.Pro1128=) single nucleotide variant Benign rs1799911 GRCh38 Chromosome 6, 33170900: 33170900
97 COL11A2 NM_080680.2(COL11A2): c.2757C> T (p.Gly919=) single nucleotide variant Benign/Likely benign rs34478777 GRCh37 Chromosome 6, 33140870: 33140870
98 COL11A2 NM_080680.2(COL11A2): c.2757C> T (p.Gly919=) single nucleotide variant Benign/Likely benign rs34478777 GRCh38 Chromosome 6, 33173093: 33173093
99 COL11A2 NM_080680.2(COL11A2): c.2584-5delC deletion Likely benign rs555657704 GRCh37 Chromosome 6, 33141527: 33141527
100 COL11A2 NM_080680.2(COL11A2): c.2584-5delC deletion Likely benign rs555657704 GRCh38 Chromosome 6, 33173750: 33173750
101 COL11A2 NM_080680.2(COL11A2): c.1774-9C> T single nucleotide variant Likely benign rs148243956 GRCh38 Chromosome 6, 33178361: 33178361
102 COL11A2 NM_080680.2(COL11A2): c.1774-9C> T single nucleotide variant Likely benign rs148243956 GRCh37 Chromosome 6, 33146138: 33146138
103 COL11A2 NM_080680.2(COL11A2): c.1666-5_1666-3delCCT deletion Benign/Likely benign rs147815324 GRCh37 Chromosome 6, 33146512: 33146514
104 COL11A2 NM_080680.2(COL11A2): c.1666-5_1666-3delCCT deletion Benign/Likely benign rs147815324 GRCh38 Chromosome 6, 33178735: 33178737
105 COL11A2 NM_080680.2(COL11A2): c.1612-10G> C single nucleotide variant Likely benign rs182657680 GRCh37 Chromosome 6, 33146760: 33146760
106 COL11A2 NM_080680.2(COL11A2): c.1612-10G> C single nucleotide variant Likely benign rs182657680 GRCh38 Chromosome 6, 33178983: 33178983
107 COL11A2 NM_080680.2(COL11A2): c.1098G> A (p.Ala366=) single nucleotide variant Benign/Likely benign rs73741539 GRCh37 Chromosome 6, 33151943: 33151943
108 COL11A2 NM_080680.2(COL11A2): c.1098G> A (p.Ala366=) single nucleotide variant Benign/Likely benign rs73741539 GRCh38 Chromosome 6, 33184166: 33184166
109 COL11A2 NM_080680.2(COL11A2): c.752A> T (p.Gln251Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201399429 GRCh38 Chromosome 6, 33186673: 33186673
110 COL11A2 NM_080680.2(COL11A2): c.752A> T (p.Gln251Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201399429 GRCh37 Chromosome 6, 33154450: 33154450
111 COL11A2 NM_080680.2(COL11A2): c.230C> A (p.Pro77Gln) single nucleotide variant Benign/Likely benign rs35765893 GRCh37 Chromosome 6, 33157099: 33157099
112 COL11A2 NM_080680.2(COL11A2): c.230C> A (p.Pro77Gln) single nucleotide variant Benign/Likely benign rs35765893 GRCh38 Chromosome 6, 33189322: 33189322
113 COL11A2 NM_080680.2(COL11A2): c.2484+13delG deletion Benign rs55730247 GRCh38 Chromosome 6, 33174152: 33174152
114 COL11A2 NM_080680.2(COL11A2): c.2484+13delG deletion Benign rs55730247 GRCh37 Chromosome 6, 33141929: 33141929
115 COL11A2 NM_080680.2(COL11A2): c.4854C> G (p.Asp1618Glu) single nucleotide variant Uncertain significance rs151319255 GRCh37 Chromosome 6, 33132638: 33132638
116 COL11A2 NM_080680.2(COL11A2): c.4854C> G (p.Asp1618Glu) single nucleotide variant Uncertain significance rs151319255 GRCh38 Chromosome 6, 33164861: 33164861
117 COL11A2 NM_080680.2(COL11A2): c.4675C> T (p.Arg1559Trp) single nucleotide variant Uncertain significance rs370966667 GRCh37 Chromosome 6, 33133401: 33133401
118 COL11A2 NM_080680.2(COL11A2): c.4675C> T (p.Arg1559Trp) single nucleotide variant Uncertain significance rs370966667 GRCh38 Chromosome 6, 33165624: 33165624
119 COL11A2 NM_080680.2(COL11A2): c.*248C> A single nucleotide variant Uncertain significance rs886061314 GRCh37 Chromosome 6, 33131207: 33131207
120 COL11A2 NM_080680.2(COL11A2): c.*248C> A single nucleotide variant Uncertain significance rs886061314 GRCh38 Chromosome 6, 33163430: 33163430
121 COL11A2 NM_080680.2(COL11A2): c.4651C> T (p.Arg1551Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141254777 GRCh37 Chromosome 6, 33133425: 33133425
122 COL11A2 NM_080680.2(COL11A2): c.4651C> T (p.Arg1551Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141254777 GRCh38 Chromosome 6, 33165648: 33165648
123 COL11A2 NM_080680.2(COL11A2): c.4586C> T (p.Pro1529Leu) single nucleotide variant Likely benign rs201315111 GRCh37 Chromosome 6, 33133490: 33133490
124 COL11A2 NM_080680.2(COL11A2): c.4586C> T (p.Pro1529Leu) single nucleotide variant Likely benign rs201315111 GRCh38 Chromosome 6, 33165713: 33165713
125 COL11A2 NM_080680.2(COL11A2): c.3654A> G (p.Ser1218=) single nucleotide variant Conflicting interpretations of pathogenicity rs146962984 GRCh38 Chromosome 6, 33169867: 33169867
126 COL11A2 NM_080680.2(COL11A2): c.3654A> G (p.Ser1218=) single nucleotide variant Conflicting interpretations of pathogenicity rs146962984 GRCh37 Chromosome 6, 33137644: 33137644
127 COL11A2 NM_080680.2(COL11A2): c.3328C> T (p.Pro1110Ser) single nucleotide variant Likely benign rs141164483 GRCh38 Chromosome 6, 33171152: 33171152
128 COL11A2 NM_080680.2(COL11A2): c.3328C> T (p.Pro1110Ser) single nucleotide variant Likely benign rs141164483 GRCh37 Chromosome 6, 33138929: 33138929
129 COL11A2 NM_080680.2(COL11A2): c.2848C> T (p.Pro950Ser) single nucleotide variant Uncertain significance rs768902062 GRCh38 Chromosome 6, 33172580: 33172580
130 COL11A2 NM_080680.2(COL11A2): c.2848C> T (p.Pro950Ser) single nucleotide variant Uncertain significance rs768902062 GRCh37 Chromosome 6, 33140357: 33140357
131 COL11A2 NM_080680.2(COL11A2): c.1873-14A> G single nucleotide variant Likely benign rs149099562 GRCh38 Chromosome 6, 33177720: 33177720
132 COL11A2 NM_080680.2(COL11A2): c.1873-14A> G single nucleotide variant Likely benign rs149099562 GRCh37 Chromosome 6, 33145497: 33145497
133 COL11A2 NM_080680.2(COL11A2): c.1208C> T (p.Pro403Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201179101 GRCh38 Chromosome 6, 33180977: 33180977
134 COL11A2 NM_080680.2(COL11A2): c.1208C> T (p.Pro403Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201179101 GRCh37 Chromosome 6, 33148754: 33148754
135 COL11A2 NM_080680.2(COL11A2): c.-226C> T single nucleotide variant Uncertain significance rs886061320 GRCh37 Chromosome 6, 33160243: 33160243
136 COL11A2 NM_080680.2(COL11A2): c.-226C> T single nucleotide variant Uncertain significance rs886061320 GRCh38 Chromosome 6, 33192466: 33192466
137 COL11A2 NM_080680.2(COL11A2): c.*925G> A single nucleotide variant Likely benign rs117470046 GRCh37 Chromosome 6, 33130530: 33130530
138 COL11A2 NM_080680.2(COL11A2): c.*925G> A single nucleotide variant Likely benign rs117470046 GRCh38 Chromosome 6, 33162753: 33162753
139 COL11A2 NM_080680.2(COL11A2): c.*536C> T single nucleotide variant Uncertain significance rs886061312 GRCh37 Chromosome 6, 33130919: 33130919
140 COL11A2 NM_080680.2(COL11A2): c.*536C> T single nucleotide variant Uncertain significance rs886061312 GRCh38 Chromosome 6, 33163142: 33163142
141 COL11A2 NM_080680.2(COL11A2): c.4951G> A (p.Val1651Ile) single nucleotide variant Uncertain significance rs766589324 GRCh37 Chromosome 6, 33132163: 33132163
142 COL11A2 NM_080680.2(COL11A2): c.4951G> A (p.Val1651Ile) single nucleotide variant Uncertain significance rs766589324 GRCh38 Chromosome 6, 33164386: 33164386
143 COL11A2 NM_080680.2(COL11A2): c.4265C> T (p.Pro1422Leu) single nucleotide variant Benign/Likely benign rs555936333 GRCh37 Chromosome 6, 33134570: 33134570
144 COL11A2 NM_080680.2(COL11A2): c.4265C> T (p.Pro1422Leu) single nucleotide variant Benign/Likely benign rs555936333 GRCh38 Chromosome 6, 33166793: 33166793
145 COL11A2 NM_080680.2(COL11A2): c.3583-5T> C single nucleotide variant Benign/Likely benign rs183536190 GRCh38 Chromosome 6, 33170105: 33170105
146 COL11A2 NM_080680.2(COL11A2): c.3583-5T> C single nucleotide variant Benign/Likely benign rs183536190 GRCh37 Chromosome 6, 33137882: 33137882
147 COL11A2 NM_080680.2(COL11A2): c.3370G> A (p.Ala1124Thr) single nucleotide variant Uncertain significance rs886061316 GRCh38 Chromosome 6, 33170914: 33170914
148 COL11A2 NM_080680.2(COL11A2): c.3370G> A (p.Ala1124Thr) single nucleotide variant Uncertain significance rs886061316 GRCh37 Chromosome 6, 33138691: 33138691
149 COL11A2 NM_080680.2(COL11A2): c.3092C> T (p.Pro1031Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs528009333 GRCh38 Chromosome 6, 33171771: 33171771
150 COL11A2 NM_080680.2(COL11A2): c.3092C> T (p.Pro1031Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs528009333 GRCh37 Chromosome 6, 33139548: 33139548
151 COL11A2 NM_080680.2(COL11A2): c.2182A> T (p.Ile728Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs188490457 GRCh38 Chromosome 6, 33176291: 33176291
152 COL11A2 NM_080680.2(COL11A2): c.2182A> T (p.Ile728Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs188490457 GRCh37 Chromosome 6, 33144068: 33144068
153 COL11A2 NM_080680.2(COL11A2): c.1178C> T (p.Pro393Leu) single nucleotide variant Uncertain significance rs140266192 GRCh38 Chromosome 6, 33181112: 33181112
154 COL11A2 NM_080680.2(COL11A2): c.1178C> T (p.Pro393Leu) single nucleotide variant Uncertain significance rs140266192 GRCh37 Chromosome 6, 33148889: 33148889
155 COL11A2 NM_080680.2(COL11A2): c.830C> A (p.Pro277His) single nucleotide variant Uncertain significance rs886061318 GRCh38 Chromosome 6, 33185747: 33185747
156 COL11A2 NM_080680.2(COL11A2): c.830C> A (p.Pro277His) single nucleotide variant Uncertain significance rs886061318 GRCh37 Chromosome 6, 33153524: 33153524
157 COL11A2 NM_080680.2(COL11A2): c.453T> C (p.Arg151=) single nucleotide variant Uncertain significance rs147115504 GRCh38 Chromosome 6, 33188515: 33188515
158 COL11A2 NM_080680.2(COL11A2): c.453T> C (p.Arg151=) single nucleotide variant Uncertain significance rs147115504 GRCh37 Chromosome 6, 33156292: 33156292
159 COL11A2 NM_080680.2(COL11A2): c.-200G> A single nucleotide variant Likely benign rs144092339 GRCh37 Chromosome 6, 33160217: 33160217
160 COL11A2 NM_080680.2(COL11A2): c.-200G> A single nucleotide variant Likely benign rs144092339 GRCh38 Chromosome 6, 33192440: 33192440
161 COL11A2 NM_080680.2(COL11A2): c.*706G> T single nucleotide variant Likely benign rs548143581 GRCh37 Chromosome 6, 33130749: 33130749
162 COL11A2 NM_080680.2(COL11A2): c.*706G> T single nucleotide variant Likely benign rs548143581 GRCh38 Chromosome 6, 33162972: 33162972
163 COL11A2 NM_080680.2(COL11A2): c.*439C> A single nucleotide variant Uncertain significance rs886061313 GRCh37 Chromosome 6, 33131016: 33131016
164 COL11A2 NM_080680.2(COL11A2): c.*439C> A single nucleotide variant Uncertain significance rs886061313 GRCh38 Chromosome 6, 33163239: 33163239
165 COL11A2 NM_080680.2(COL11A2): c.*119G> A single nucleotide variant Likely benign rs183458493 GRCh37 Chromosome 6, 33131336: 33131336
166 COL11A2 NM_080680.2(COL11A2): c.*119G> A single nucleotide variant Likely benign rs183458493 GRCh38 Chromosome 6, 33163559: 33163559
167 COL11A2 NM_080680.2(COL11A2): c.4080G> A (p.Gly1360=) single nucleotide variant Likely benign rs537455619 GRCh37 Chromosome 6, 33135245: 33135245
168 COL11A2 NM_080680.2(COL11A2): c.4080G> A (p.Gly1360=) single nucleotide variant Likely benign rs537455619 GRCh38 Chromosome 6, 33167468: 33167468
169 COL11A2 NM_080680.2(COL11A2): c.3725C> T (p.Ser1242Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs534570825 GRCh37 Chromosome 6, 33137233: 33137233
170 COL11A2 NM_080680.2(COL11A2): c.3725C> T (p.Ser1242Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs534570825 GRCh38 Chromosome 6, 33169456: 33169456
171 COL11A2 NM_080680.2(COL11A2): c.3267G> A (p.Val1089=) single nucleotide variant Uncertain significance rs781462105 GRCh38 Chromosome 6, 33171316: 33171316
172 COL11A2 NM_080680.2(COL11A2): c.3267G> A (p.Val1089=) single nucleotide variant Uncertain significance rs781462105 GRCh37 Chromosome 6, 33139093: 33139093
173 COL11A2 NM_080680.2(COL11A2): c.2416C> T (p.Arg806Cys) single nucleotide variant Uncertain significance rs376355040 GRCh38 Chromosome 6, 33174541: 33174541
174 COL11A2 NM_080680.2(COL11A2): c.2416C> T (p.Arg806Cys) single nucleotide variant Uncertain significance rs376355040 GRCh37 Chromosome 6, 33142318: 33142318
175 COL11A2 NM_080680.2(COL11A2): c.2215-11A> G single nucleotide variant Likely benign rs557236389 GRCh38 Chromosome 6, 33176080: 33176080
176 COL11A2 NM_080680.2(COL11A2): c.2215-11A> G single nucleotide variant Likely benign rs557236389 GRCh37 Chromosome 6, 33143857: 33143857
177 COL11A2 NM_080680.2(COL11A2): c.2054G> C (p.Gly685Ala) single nucleotide variant Uncertain significance rs757431548 GRCh38 Chromosome 6, 33177008: 33177008
178 COL11A2 NM_080680.2(COL11A2): c.2054G> C (p.Gly685Ala) single nucleotide variant Uncertain significance rs757431548 GRCh37 Chromosome 6, 33144785: 33144785
179 COL11A2 NM_080680.2(COL11A2): c.1818+15G> A single nucleotide variant Likely benign rs549588854 GRCh38 Chromosome 6, 33178293: 33178293
180 COL11A2 NM_080680.2(COL11A2): c.1818+15G> A single nucleotide variant Likely benign rs549588854 GRCh37 Chromosome 6, 33146070: 33146070
181 COL11A2 NM_080680.2(COL11A2): c.939G> C (p.Glu313Asp) single nucleotide variant Uncertain significance rs886061317 GRCh38 Chromosome 6, 33184992: 33184992
182 COL11A2 NM_080680.2(COL11A2): c.939G> C (p.Glu313Asp) single nucleotide variant Uncertain significance rs886061317 GRCh37 Chromosome 6, 33152769: 33152769
183 COL11A2 NM_080680.2(COL11A2): c.-92A> G single nucleotide variant Uncertain significance rs886061319 GRCh37 Chromosome 6, 33160109: 33160109
184 COL11A2 NM_080680.2(COL11A2): c.-92A> G single nucleotide variant Uncertain significance rs886061319 GRCh38 Chromosome 6, 33192332: 33192332
185 COL11A2 NM_080680.2(COL11A2): c.-174C> A single nucleotide variant Benign rs138299820 GRCh37 Chromosome 6, 33160191: 33160191
186 COL11A2 NM_080680.2(COL11A2): c.-174C> A single nucleotide variant Benign rs138299820 GRCh38 Chromosome 6, 33192414: 33192414
187 COL11A2 NM_080680.2(COL11A2): c.*822C> G single nucleotide variant Likely benign rs536130072 GRCh37 Chromosome 6, 33130633: 33130633
188 COL11A2 NM_080680.2(COL11A2): c.*822C> G single nucleotide variant Likely benign rs536130072 GRCh38 Chromosome 6, 33162856: 33162856
189 COL11A2 NM_080680.2(COL11A2): c.*544C> G single nucleotide variant Uncertain significance rs199956729 GRCh37 Chromosome 6, 33130911: 33130911
190 COL11A2 NM_080680.2(COL11A2): c.*544C> G single nucleotide variant Uncertain significance rs199956729 GRCh38 Chromosome 6, 33163134: 33163134
191 COL11A2 NM_080680.2(COL11A2): c.*128C> G single nucleotide variant Likely benign rs528560777 GRCh37 Chromosome 6, 33131327: 33131327
192 COL11A2 NM_080680.2(COL11A2): c.*128C> G single nucleotide variant Likely benign rs528560777 GRCh38 Chromosome 6, 33163550: 33163550
193 COL11A2 NM_080680.2(COL11A2): c.4872C> T (p.Tyr1624=) single nucleotide variant Likely benign rs372250466 GRCh37 Chromosome 6, 33132242: 33132242
194 COL11A2 NM_080680.2(COL11A2): c.4872C> T (p.Tyr1624=) single nucleotide variant Likely benign rs372250466 GRCh38 Chromosome 6, 33164465: 33164465
195 COL11A2 NM_080680.2(COL11A2): c.3883G> A (p.Glu1295Lys) single nucleotide variant Uncertain significance rs758507327 GRCh37 Chromosome 6, 33136506: 33136506
196 COL11A2 NM_080680.2(COL11A2): c.3883G> A (p.Glu1295Lys) single nucleotide variant Uncertain significance rs758507327 GRCh38 Chromosome 6, 33168729: 33168729
197 COL11A2 NM_080680.2(COL11A2): c.3850C> T (p.Arg1284Trp) single nucleotide variant Uncertain significance rs886061315 GRCh37 Chromosome 6, 33136734: 33136734
198 COL11A2 NM_080680.2(COL11A2): c.3850C> T (p.Arg1284Trp) single nucleotide variant Uncertain significance rs886061315 GRCh38 Chromosome 6, 33168957: 33168957
199 COL11A2 NM_080680.2(COL11A2): c.2735T> C (p.Val912Ala) single nucleotide variant Likely benign rs548592690 GRCh38 Chromosome 6, 33173349: 33173349
200 COL11A2 NM_080680.2(COL11A2): c.2735T> C (p.Val912Ala) single nucleotide variant Likely benign rs548592690 GRCh37 Chromosome 6, 33141126: 33141126
201 COL11A2 NM_080680.2(COL11A2): c.2684G> C (p.Gly895Ala) single nucleotide variant Likely benign rs555936455 GRCh38 Chromosome 6, 33173400: 33173400
202 COL11A2 NM_080680.2(COL11A2): c.2684G> C (p.Gly895Ala) single nucleotide variant Likely benign rs555936455 GRCh37 Chromosome 6, 33141177: 33141177
203 COL11A2 NM_080680.2(COL11A2): c.2271C> T (p.Gly757=) single nucleotide variant Conflicting interpretations of pathogenicity rs745568808 GRCh38 Chromosome 6, 33175679: 33175679
204 COL11A2 NM_080680.2(COL11A2): c.2271C> T (p.Gly757=) single nucleotide variant Conflicting interpretations of pathogenicity rs745568808 GRCh37 Chromosome 6, 33143456: 33143456
205 COL11A2 NM_080680.2(COL11A2): c.1381G> T (p.Gly461Cys) single nucleotide variant Likely benign rs764998691 GRCh38 Chromosome 6, 33179784: 33179784
206 COL11A2 NM_080680.2(COL11A2): c.1381G> T (p.Gly461Cys) single nucleotide variant Likely benign rs764998691 GRCh37 Chromosome 6, 33147561: 33147561
207 COL11A2 NM_080680.2(COL11A2): c.5A> G (p.Glu2Gly) single nucleotide variant Likely benign rs568840295 GRCh38 Chromosome 6, 33192236: 33192236
208 COL11A2 NM_080680.2(COL11A2): c.5A> G (p.Glu2Gly) single nucleotide variant Likely benign rs568840295 GRCh37 Chromosome 6, 33160013: 33160013
209 COL11A2 NM_080680.2(COL11A2): c.-241G> A single nucleotide variant Likely benign rs533843327 GRCh38 Chromosome 6, 33192481: 33192481
210 COL11A2 NM_080680.2(COL11A2): c.-241G> A single nucleotide variant Likely benign rs533843327 GRCh37 Chromosome 6, 33160258: 33160258
211 COL11A2 NM_080680.2(COL11A2): c.3289A> C (p.Thr1097Pro) single nucleotide variant Uncertain significance rs138045609 GRCh37 Chromosome 6, 33139071: 33139071
212 COL11A2 NM_080680.2(COL11A2): c.3289A> C (p.Thr1097Pro) single nucleotide variant Uncertain significance rs138045609 GRCh38 Chromosome 6, 33171294: 33171294
213 COL2A1 NM_001844.4(COL2A1): c.1420-7_1430del18 deletion Pathogenic GRCh37 Chromosome 12, 48380215: 48380233
214 COL2A1 NM_001844.4(COL2A1): c.1420-7_1430del18 deletion Pathogenic GRCh38 Chromosome 12, 47986433: 47986450

Expression for Otospondylomegaepiphyseal Dysplasia

Search GEO for disease gene expression data for Otospondylomegaepiphyseal Dysplasia.

Pathways for Otospondylomegaepiphyseal Dysplasia

GO Terms for Otospondylomegaepiphyseal Dysplasia

Cellular components related to Otospondylomegaepiphyseal Dysplasia according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.54 COL11A1 COL11A2 COL2A1
2 extracellular matrix GO:0031012 9.5 COL11A1 COL11A2 COL2A1
3 endoplasmic reticulum lumen GO:0005788 9.43 COL11A1 COL11A2 COL2A1
4 collagen-containing extracellular matrix GO:0062023 9.33 COL11A1 COL11A2 COL2A1
5 collagen trimer GO:0005581 9.13 COL11A1 COL11A2 COL2A1
6 collagen type XI trimer GO:0005592 8.62 COL11A1 COL11A2

Biological processes related to Otospondylomegaepiphyseal Dysplasia according to GeneCards Suite gene sharing:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.55 COL11A1 COL2A1
2 skeletal system development GO:0001501 9.54 COL11A2 COL2A1
3 extracellular matrix organization GO:0030198 9.54 COL11A1 COL11A2 COL2A1
4 ossification GO:0001503 9.52 COL11A1 COL2A1
5 roof of mouth development GO:0060021 9.51 COL11A2 COL2A1
6 inner ear morphogenesis GO:0042472 9.49 COL11A1 COL2A1
7 heart morphogenesis GO:0003007 9.48 COL11A1 COL2A1
8 chondrocyte differentiation GO:0002062 9.46 COL11A2 COL2A1
9 tissue homeostasis GO:0001894 9.43 COL11A2 COL2A1
10 sensory perception of sound GO:0007605 9.43 COL11A1 COL11A2 COL2A1
11 cartilage condensation GO:0001502 9.4 COL11A1 COL2A1
12 cartilage development GO:0051216 9.33 COL11A1 COL11A2 COL2A1
13 proteoglycan metabolic process GO:0006029 9.32 COL11A1 COL2A1
14 collagen fibril organization GO:0030199 9.13 COL11A1 COL11A2 COL2A1
15 skeletal system morphogenesis GO:0048705 8.8 COL11A1 COL11A2 COL2A1

Molecular functions related to Otospondylomegaepiphyseal Dysplasia according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 9.16 COL11A1 COL11A2
2 extracellular matrix structural constituent GO:0005201 9.13 COL11A1 COL11A2 COL2A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL11A1 COL11A2 COL2A1

Sources for Otospondylomegaepiphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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