STL1
MCID: STC015
MIFTS: 40

Stickler Syndrome, Type I (STL1)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Stickler Syndrome, Type I

MalaCards integrated aliases for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I 56 13 54 39
Stickler Syndrome Type 1 58 29 6
Stickler Syndrome, Type 1 74 71
Stickler Syndrome 1 12 73
Stl1 56 73
Aom 56 73
Arthroophthalmopathy, Hereditary Progressive; Aom 56
Arthroophthalmopathy, Hereditary Progressive 56
Arthro-Ophthalmopathy Hereditary Progressive 73
Stickler Syndrome, Membranous Vitreous Type 56
Stickler Syndrome Membranous Vitreous Type 73
Stickler Syndrome, Vitreous Type 1 56
Stickler Syndrome Vitreous Type 1 73
Stickler Syndrome Type I 73

Characteristics:

Orphanet epidemiological data:

58
stickler syndrome type 1
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
stickler syndrome, type i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Stickler Syndrome, Type I

UniProtKB/Swiss-Prot : 73 Stickler syndrome 1: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.

MalaCards based summary : Stickler Syndrome, Type I, also known as stickler syndrome type 1, is related to stickler syndrome, type i, nonsyndromic ocular and otitis media. An important gene associated with Stickler Syndrome, Type I is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, eye and tongue, and related phenotypes are cataract and skeletal dysplasia

Disease Ontology : 12 A Stickler syndrome that has material basis in heterozygous mutation in the COL2A1 gene on chromosome 12q13.

OMIM : 56 Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis (summary by Baker et al., 2011). (108300)

Wikipedia : 74 Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic... more...

Related Diseases for Stickler Syndrome, Type I

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type I Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv Stickler Syndrome, Type V
Autosomal Recessive Stickler Syndrome

Diseases related to Stickler Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 stickler syndrome, type i, nonsyndromic ocular 12.5
2 otitis media 11.8
3 serous glue ear 11.4
4 vitreoretinal degeneration 11.4
5 abdominal obesity-metabolic syndrome quantitative trait locus 2 11.2
6 colorectal cancer 10.7
7 colitis 10.5
8 stickler syndrome 10.4
9 adenoma 10.4
10 haemophilus influenzae 10.4
11 adenocarcinoma 10.3
12 stickler syndrome, type ii 10.3
13 inflammatory bowel disease 10.2
14 colon adenocarcinoma 10.2
15 periodontal ehlers-danlos syndrome 10.2
16 cleft palate, isolated 10.1
17 spondyloepiphyseal dysplasia with congenital joint dislocations 10.1
18 cataract 10.1
19 hepatocellular carcinoma 10.0
20 body mass index quantitative trait locus 11 10.0
21 tubulin, beta 10.0
22 leukemia, acute myeloid 10.0
23 body mass index quantitative trait locus 9 10.0
24 body mass index quantitative trait locus 8 10.0
25 body mass index quantitative trait locus 4 10.0
26 body mass index quantitative trait locus 10 10.0
27 body mass index quantitative trait locus 7 10.0
28 body mass index quantitative trait locus 12 10.0
29 body mass index quantitative trait locus 14 10.0
30 body mass index quantitative trait locus 18 10.0
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
32 body mass index quantitative trait locus 19 10.0
33 body mass index quantitative trait locus 20 10.0
34 colorectal adenoma 10.0
35 mastoiditis 10.0
36 sensorineural hearing loss 10.0
37 cholesteatoma of middle ear 10.0
38 suppurative otitis media 10.0
39 facial paralysis 10.0
40 bipolar i disorder 10.0
41 chronic purulent otitis media 10.0
42 dermatitis 10.0
43 hyperglycemia 10.0
44 colonic disease 10.0
45 ulcerative colitis 10.0
46 rapidly involuting congenital hemangioma 10.0
47 treacher collins syndrome 1 10.0
48 marshall syndrome 10.0
49 pierre robin syndrome 10.0
50 ptosis 10.0

Graphical network of the top 20 diseases related to Stickler Syndrome, Type I:



Diseases related to Stickler Syndrome, Type I

Symptoms & Phenotypes for Stickler Syndrome, Type I

Human phenotypes related to Stickler Syndrome, Type I:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000518
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
4 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
5 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
6 retinal detachment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000541
7 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
8 abnormal vitreous humor morphology 31 hallmark (90%) HP:0004327
9 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
10 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
11 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
12 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
13 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
14 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
15 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
16 osteoarthritis 58 31 very rare (1%) Frequent (79-30%) HP:0002758
17 abnormality of vertebral epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0100734
18 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
19 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
20 conductive hearing impairment 31 occasional (7.5%) HP:0000405
21 scoliosis 31 very rare (1%) HP:0002650
22 spondylolisthesis 31 very rare (1%) HP:0003302
23 bifid uvula 31 very rare (1%) HP:0000193
24 submucous cleft hard palate 31 very rare (1%) HP:0000176
25 morbus scheuermann 31 very rare (1%) HP:0010891
26 depressed nasal bridge 31 HP:0005280
27 kyphosis 31 HP:0002808
28 beaking of vertebral bodies 31 HP:0004568
29 anteverted nares 31 HP:0000463
30 blindness 31 HP:0000618
31 pectus excavatum 31 HP:0000767
32 arachnodactyly 31 HP:0001166
33 disproportionate tall stature 31 HP:0001519
34 glaucoma 31 HP:0000501
35 abnormality of epiphysis morphology 58 Frequent (79-30%)
36 malar flattening 31 HP:0000272
37 abnormality of the vitreous humor 58 Very frequent (99-80%)
38 midface retrusion 31 HP:0011800
39 pierre-robin sequence 31 HP:0000201
40 arthropathy 31 HP:0003040
41 spondyloepiphyseal dysplasia 31 HP:0002655
42 irregular femoral epiphysis 31 HP:0006361
43 membranous vitreous appearance 31 HP:0031153

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Eyes:
blindness
myopia
glaucoma
retinal detachment
occasional cataracts
more
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Limbs:
arachnodactyly
arthropathy
flat, irregular femoral epiphyses

Head And Neck Ears:
sensorineural hearing loss
occasional conductive hearing loss

Growth Other:
marfanoid habitus

Skeletal Spine:
scoliosis
kyphosis
platyspondyly with anterior wedging

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Cardiovascular Heart:
mitral valve prolapse

Head And Neck Face:
flat midface

Growth Height:
normal height

Skeletal:
mild spondyloepiphyseal dysplasia

Clinical features from OMIM:

108300

Drugs & Therapeutics for Stickler Syndrome, Type I

Search Clinical Trials , NIH Clinical Center for Stickler Syndrome, Type I

Genetic Tests for Stickler Syndrome, Type I

Genetic tests related to Stickler Syndrome, Type I:

# Genetic test Affiliating Genes
1 Stickler Syndrome Type 1 29 COL2A1

Anatomical Context for Stickler Syndrome, Type I

MalaCards organs/tissues related to Stickler Syndrome, Type I:

40
Bone, Eye, Tongue

Publications for Stickler Syndrome, Type I

Articles related to Stickler Syndrome, Type I:

(show top 50) (show all 119)
# Title Authors PMID Year
1
A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. 56 6
16189708 2005
2
Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. 6 56
11007540 2000
3
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. 56 6
10982970 2000
4
Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. 56 6
10706362 2000
5
A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. 56 6
8737653 1996
6
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. 56 6
8434604 1993
7
Procollagen II gene mutation in Stickler syndrome. 6 56
1444917 1992
8
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). 6 56
1677770 1991
9
HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. 6 56
14299791 1965
10
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 56 61
18177466 2008
11
Stickler syndrome: clinical characteristics and diagnostic criteria. 56 54
16152640 2005
12
Type II Collagen Disorders Overview 6
31021589 2019
13
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
14
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. 56
21671392 2011
15
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. 56
20179744 2010
16
Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. 56
17318849 2007
17
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. 56
16752401 2006
18
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. 6
12939326 2003
19
Prevalence of mitral valve prolapse in Stickler syndrome. 56
12503098 2003
20
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. 56
12544472 2003
21
Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. 56
12150217 2002
22
Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. 56
11388760 2001
23
Stickler Syndrome 6
20301479 2000
24
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. 56
10486316 1999
25
Clinical and Molecular genetics of Stickler syndrome. 56
10353778 1999
26
Correlation of linkage data with phenotype in eight families with Stickler syndrome. 56
9805127 1998
27
Marshall syndrome associated with a splicing defect at the COL11A1 locus. 56
9529347 1998
28
Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. 6
7487609 1995
29
A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. 6
8406454 1993
30
Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. 56
1358786 1992
31
Variability of Stickler syndrome. 56
1536174 1992
32
Genetic and clinical heterogeneity of Stickler syndrome. 56
1683158 1991
33
Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome. 56
1977683 1990
34
Distinctive cataract in the Stickler syndrome. 56
2378378 1990
35
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. 56
2573273 1989
36
Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens. 6
2803268 1989
37
Stickler's syndrome. 56
2918540 1989
38
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. 56
2896625 1987
39
Stickler's syndrome: a study of 12 families. 56
3651362 1987
40
Prevalence of mitral-valve prolapse in the Stickler syndrome. 56
3728560 1986
41
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. 56
6650564 1983
42
The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome. 56
7064999 1982
43
Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia. 56
6966133 1980
44
Hereditary progressive arthro-ophthalmopathy of Stickler. 56
507166 1979
45
The Stickler syndrome (hereditary arthro-ophthalmopathy). 56
409578 1977
46
The Stickler syndrome (hereditary arthro-ophthalmopathy). 56
1247001 1976
47
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy). 56
4429933 1974
48
Hyalo-retinopathy in the clefting syndrome. 56
4820990 1974
49
Ocular anomalies in malformation syndromes. 56
4199617 1972
50
The Stickler syndrome. 56
4621768 1972

Variations for Stickler Syndrome, Type I

ClinVar genetic disease variations for Stickler Syndrome, Type I:

6 (show top 50) (show all 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL2A1 NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)deletion Pathogenic 635549 12:48369344-48369344 12:47975561-47975561
2 COL2A1 NM_001844.5(COL2A1):c.491del (p.Pro164fs)deletion Pathogenic 689620 12:48391429-48391429 12:47997646-47997646
3 COL2A1 NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)duplication Pathogenic 692014 12:48372167-48372168 12:47978384-47978385
4 COL2A1 NM_001844.5(COL2A1):c.3598-1G>ASNV Pathogenic 807558 12:48369389-48369389 12:47975606-47975606
5 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)SNV Pathogenic 17366 rs121912874 12:48372112-48372112 12:47978329-47978329
6 COL2A1 NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)SNV Pathogenic 17368 rs121912876 12:48387824-48387824 12:47994041-47994041
7 COL2A1 COL2A1, 1-BP DEL, EX50deletion Pathogenic 17373
8 COL2A1 COL2A1, IVS17, A-G, -2SNV Pathogenic 17374
9 COL2A1 NM_001844.5(COL2A1):c.1680+1G>ASNV Pathogenic 17382 12:48379510-48379510 12:47985727-47985727
10 COL2A1 NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)SNV Pathogenic 17384 rs121912885 12:48377218-48377218 12:47983435-47983435
11 COL2A1 NM_001844.5(COL2A1):c.709-2A>GSNV Pathogenic 17398 12:48389093-48389093 12:47995310-47995310
12 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)SNV Pathogenic 17395 rs121912893 12:48377504-48377504 12:47983721-47983721
13 COL2A1 NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)SNV Pathogenic 197503 rs748459670 12:48371798-48371798 12:47978015-47978015
14 COL2A1 NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)deletion Pathogenic 17365 rs121912873 12:48371410-48371410 12:47977627-47977627
15 COL2A1 NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)SNV Pathogenic 17360 rs121912869 12:48389687-48389687 12:47995904-47995904
16 COL2A1 COL2A1, 1-BP DEL, EX40deletion Pathogenic 17358
17 COL2A1 NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)SNV Pathogenic 17355 rs121912866 12:48372481-48372481 12:47978698-47978698
18 COL2A1 NM_001844.5(COL2A1):c.2679+1G>ASNV Pathogenic 802843 12:48373791-48373791 12:47980008-47980008
19 COL2A1 NM_001844.5(COL2A1):c.578_579GC[1] (p.Ala194fs)short repeat Pathogenic 623179 12:48390359-48390360 12:47996576-47996577
20 COL2A1 NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)SNV Pathogenic 598754 rs1565679039 12:48377182-48377182 12:47983399-47983399
21 COL2A1 NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)SNV Pathogenic 547252 rs1025202963 12:48381438-48381438 12:47987655-47987655
22 COL2A1 NM_001844.5(COL2A1):c.2381del (p.Pro794fs)deletion Pathogenic 547258 rs1555166218 12:48375587-48375587 12:47981804-47981804
23 COL2A1 NM_001844.5(COL2A1):c.3166-1G>ASNV Pathogenic 547260 rs1555165204 12:48371211-48371211 12:47977428-47977428
24 COL2A1 NM_001844.5(COL2A1):c.3731del (p.Ala1244fs)deletion Pathogenic 547263 rs1555164735 12:48369255-48369255 12:47975472-47975472
25 COL2A1 NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)SNV Pathogenic 449397 rs1555166555 12:48376723-48376723 12:47982940-47982940
26 COL2A1 NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)SNV Pathogenic 430186 rs1131691822 12:48389546-48389546 12:47995763-47995763
27 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)SNV Pathogenic 195148 rs794727261 12:48393736-48393736 12:47999953-47999953
28 COL2A1 NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)SNV Pathogenic/Likely pathogenic 17383 rs121912884 12:48379358-48379358 12:47985575-47985575
29 COL2A1 NM_001844.5(COL2A1):c.609+4deldeletion Likely pathogenic 520405 rs1555168965 12:48390327-48390327 12:47996544-47996544
30 COL2A1 NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs)deletion Likely pathogenic 547250 rs1555168309 12:48386713-48386713 12:47992930-47992930
31 COL2A1 NM_001844.5(COL2A1):c.2049+1G>ASNV Likely pathogenic 547254 rs1555166658 12:48377167-48377167 12:47983384-47983384
32 COL2A1 NM_001844.5(COL2A1):c.2355+2deldeletion Likely pathogenic 547257 rs1555166295 12:48375888-48375888 12:47982105-47982105
33 COL2A1 NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)SNV Likely pathogenic 547245 rs1246771678 12:48393838-48393838 12:48000055-48000055
34 COL2A1 NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)SNV Likely pathogenic 802841 12:48371891-48371891 12:47978108-47978108
35 COL2A1 NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)SNV Likely pathogenic 802846 12:48377492-48377492 12:47983709-47983709
36 COL2A1 NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)SNV Likely pathogenic 802844 12:48374366-48374366 12:47980583-47980583
37 COL2A1 NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)SNV Likely pathogenic 286275 rs886043356 12:48370901-48370901 12:47977118-47977118
38 COL2A1 NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)SNV Conflicting interpretations of pathogenicity 252593 rs141423593 12:48374388-48374388 12:47980605-47980605
39 COL2A1 NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)SNV Conflicting interpretations of pathogenicity 881739 12:48381477-48381477 12:47987694-47987694
40 COL2A1 NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)SNV Conflicting interpretations of pathogenicity 881132 12:48369838-48369838 12:47976055-47976055
41 COL2A1 NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)SNV Conflicting interpretations of pathogenicity 883499 12:48369323-48369323 12:47975540-47975540
42 COL2A1 NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)SNV Conflicting interpretations of pathogenicity 883498 12:48369273-48369273 12:47975490-47975490
43 COL2A1 NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)SNV Conflicting interpretations of pathogenicity 881094 12:48368096-48368096 12:47974313-47974313
44 COL2A1 NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)SNV Conflicting interpretations of pathogenicity 882673 12:48367304-48367304 12:47973521-47973521
45 COL2A1 NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)SNV Conflicting interpretations of pathogenicity 881508 12:48367206-48367206 12:47973423-47973423
46 COL2A1 NM_001844.5(COL2A1):c.2410-13T>GSNV Conflicting interpretations of pathogenicity 882808 12:48375192-48375192 12:47981409-47981409
47 COL2A1 NM_001844.5(COL2A1):c.4074+12G>TSNV Conflicting interpretations of pathogenicity 881561 12:48368446-48368446 12:47974663-47974663
48 COL2A1 NM_001844.5(COL2A1):c.2680-9C>TSNV Conflicting interpretations of pathogenicity 197431 rs369022247 12:48373356-48373356 12:47979573-47979573
49 COL2A1 NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)SNV Conflicting interpretations of pathogenicity 93790 rs201646745 12:48368468-48368468 12:47974685-47974685
50 COL2A1 NM_001844.5(COL2A1):c.2949C>T (p.Val983=)SNV Conflicting interpretations of pathogenicity 258231 rs201719788 12:48372128-48372128 12:47978345-47978345

UniProtKB/Swiss-Prot genetic disease variations for Stickler Syndrome, Type I:

73
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Arg904Cys VAR_017645 rs121912882
2 COL2A1 p.Arg565Cys VAR_023927 rs121912884
3 COL2A1 p.Gly240Asp VAR_063892
4 COL2A1 p.Gly270Arg VAR_063893
5 COL2A1 p.Gly282Asp VAR_063894
6 COL2A1 p.Gly453Ala VAR_063895 rs794727339
7 COL2A1 p.Gly501Arg VAR_063896
8 COL2A1 p.Gly1158Ala VAR_063898

Expression for Stickler Syndrome, Type I

Search GEO for disease gene expression data for Stickler Syndrome, Type I.

Pathways for Stickler Syndrome, Type I

GO Terms for Stickler Syndrome, Type I

Sources for Stickler Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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