MCID: CL1001
MIFTS: 10

Col11a1-Related Stickler Syndrome malady

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

Aliases & Classifications for Col11a1-Related Stickler Syndrome

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Aliases & Descriptions for Col11a1-Related Stickler Syndrome:

Name: Col11a1-Related Stickler Syndrome 24
Stickler Syndrome, Type Ii 67
 
Stickler Syndrome Type Ii 24

Classifications:



Summaries for Col11a1-Related Stickler Syndrome

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MalaCards based summary: Col11a1-Related Stickler Syndrome, also known as stickler syndrome, type ii, is related to stickler syndrome, type ii and stickler syndrome, type i. An important gene associated with Col11a1-Related Stickler Syndrome is COL11A1 (Collagen Type XI Alpha 1 Chain).

Related Diseases for Col11a1-Related Stickler Syndrome

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Symptoms for Col11a1-Related Stickler Syndrome

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Drugs & Therapeutics for Col11a1-Related Stickler Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Col11a1-Related Stickler Syndrome

Genetic Tests for Col11a1-Related Stickler Syndrome

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Genetic tests related to Col11a1-Related Stickler Syndrome:

id Genetic test Affiliating Genes
1 Col11a1-Related Stickler Syndrome24 COL11A1

Anatomical Context for Col11a1-Related Stickler Syndrome

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Animal Models for Col11a1-Related Stickler Syndrome or affiliated genes

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Publications for Col11a1-Related Stickler Syndrome

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Variations for Col11a1-Related Stickler Syndrome

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Clinvar genetic disease variations for Col11a1-Related Stickler Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL11A1NM_080629.2(COL11A1): c.1910G> T (p.Gly637Val)SNVPathogenicrs121912943GRCh37Chr 1, 103470189: 103470189
2COL11A1COL11A1, 54-BP EX DEL, AS, AG-TGdeletionPathogenicChr na, -1: -1
3COL11A1NM_080629.2(COL11A1): c.3204+1G> TSNVPathogenicrs886042653GRCh37Chr 1, 103427421: 103427421
4COL11A1NM_080629.2(COL11A1): c.4590+1G> CSNVPathogenicrs886044244GRCh37Chr 1, 103354278: 103354278

Expression for genes affiliated with Col11a1-Related Stickler Syndrome

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Search GEO for disease gene expression data for Col11a1-Related Stickler Syndrome.

Pathways for genes affiliated with Col11a1-Related Stickler Syndrome

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GO Terms for genes affiliated with Col11a1-Related Stickler Syndrome

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Sources for Col11a1-Related Stickler Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet