MCID: FBR046
MIFTS: 15

Fibrosis of Extraocular Muscles, Congenital, 1 malady

Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Fibrosis of Extraocular Muscles, Congenital, 1 is related to congenital fibrosis of the extraocular muscles and moebius syndrome. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (kinesin family member 21A). Affiliated tissues include eye.

Description from OMIM:46 135700

Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, 1

About this section
Sources:
46OMIM
See all sources

Aliases & Descriptions:

fibrosis of extraocular muscles, congenital, 1 46


Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 1

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Clinical Features for Fibrosis of Extraocular Muscles, Congenital, 1

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

135700

Clinical synopsis from OMIM:

135700

Drugs & Therapeutics for Fibrosis of Extraocular Muscles, Congenital, 1

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Fibrosis of Extraocular Muscles, Congenital, 1

Drug clinical trials:

Search ClinicalTrials for Fibrosis of Extraocular Muscles, Congenital, 1

Search NIH Clinical Center for Fibrosis of Extraocular Muscles, Congenital, 1

Search CenterWatch for Fibrosis of Extraocular Muscles, Congenital, 1

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 1

About this section

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 1:

32
Eye

Animal Models for Fibrosis of Extraocular Muscles, Congenital, 1 or affiliated genes

About this section

Publications for Fibrosis of Extraocular Muscles, Congenital, 1

About this section

Genetic Variations for Fibrosis of Extraocular Muscles, Congenital, 1

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 1:

62
id Symbol AA change Variation ID SNP ID
1KIF21Ap.Met356ThrVAR_019399
2KIF21Ap.Met947ArgVAR_019400
3KIF21Ap.Met947ValVAR_019401
4KIF21Ap.Arg954GlnVAR_019402
5KIF21Ap.Arg954TrpVAR_019403
6KIF21Ap.Ile1010ThrVAR_019404
7KIF21Ap.Met947ThrVAR_027021

Expression for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

Search GEO for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, 1.

Pathways for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

About this section

Compounds for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

About this section

GO Terms for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

About this section

Products for genes affiliated with Fibrosis of Extraocular Muscles, Congenital, 1

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fibrosis of Extraocular Muscles, Congenital, 1

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet