MCID: CL1001
MIFTS: 12

Col11a1-Related Stickler Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Col11a1-Related Stickler Syndrome

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Aliases & Descriptions for Col11a1-Related Stickler Syndrome:

Name: Col11a1-Related Stickler Syndrome 22
 
Stickler Syndrome, Type 2 22


Classifications:



Summaries for Col11a1-Related Stickler Syndrome

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MalaCards based summary: Col11a1-Related Stickler Syndrome, also known as stickler syndrome, type 2, is related to stickler syndrome, type ii and stickler syndrome. An important gene associated with Col11a1-Related Stickler Syndrome is COL11A1 (Collagen, Type XI, Alpha 1). Affiliated tissues include bone and eye.

Related Diseases for Col11a1-Related Stickler Syndrome

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Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type V Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iii Stickler Syndrome, Type Iv
Stickler Syndrome, Type I col11a1-related stickler syndrome
Col11a2-Related Stickler Syndrome Col2a1-Related Stickler Syndrome
Col9a1-Related Stickler Syndrome Col9a2-Related Stickler Syndrome
Autosomal Recessive Stickler Syndrome

Diseases related to Col11a1-Related Stickler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1stickler syndrome, type ii10.5
2stickler syndrome10.4

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 Syndrome22 COL11A1

Anatomical Context for Col11a1-Related Stickler Syndrome

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MalaCards organs/tissues related to Col11a1-Related Stickler Syndrome:

33
Bone, Eye

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)single nucleotide variantPathogenicrs121912943GRCh37Chr 1, 103470189: 103470189
2COL11A1COL11A1, 54-BP EX DEL, AS, AG-TGdeletionPathogenic

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet