MCID: CL1001
MIFTS: 11

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

Aliases & Descriptions for Col11a1-Related Stickler Syndrome:

Name: Col11a1-Related Stickler Syndrome 24
Stickler Syndrome, Type Ii 69
Stickler Syndrome Type Ii 24

Classifications:



Summaries for Col11a1-Related Stickler Syndrome

MalaCards based summary : Col11a1-Related Stickler Syndrome, also known as stickler syndrome, type ii, 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 Chain).

Related Diseases for Col11a1-Related Stickler Syndrome

Symptoms & Phenotypes for Col11a1-Related Stickler Syndrome

Drugs & Therapeutics for Col11a1-Related Stickler Syndrome

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

Genetic Tests for Col11a1-Related Stickler Syndrome

Genetic tests related to Col11a1-Related Stickler Syndrome:

id Genetic test Affiliating Genes
1 Col11a1-Related Stickler Syndrome 24 COL11A1

Anatomical Context for Col11a1-Related Stickler Syndrome

Publications for Col11a1-Related Stickler Syndrome

Variations for Col11a1-Related Stickler Syndrome

ClinVar genetic disease variations for Col11a1-Related Stickler Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 NM_080629.2(COL11A1): c.1910G> T (p.Gly637Val) single nucleotide variant Pathogenic rs121912943 GRCh37 Chromosome 1, 103470189: 103470189
2 COL11A1 COL11A1, 54-BP EX DEL, AS, AG-TG deletion Pathogenic
3 COL11A1 NM_080629.2(COL11A1): c.3204+1G> T single nucleotide variant Pathogenic rs886042653 GRCh37 Chromosome 1, 103427421: 103427421
4 COL11A1 NM_080629.2(COL11A1): c.4590+1G> C single nucleotide variant Pathogenic rs886044244 GRCh37 Chromosome 1, 103354278: 103354278

Expression for Col11a1-Related Stickler Syndrome

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

Pathways for Col11a1-Related Stickler Syndrome

GO Terms for Col11a1-Related Stickler Syndrome

Sources for Col11a1-Related Stickler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....