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fragile X syndrome

Disease Summary
Associated Targets (8)
Tbio

5

Tchem

3


Explore Associated Targets
Mondo Description A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
Uniprot Description A X-linked dominant disease characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most patients results from an amplification of a CGG repeat region in the FMR1 gene and abnormal methylation.
Disease Ontology Description A X-linked dominant disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has material basis in X-linked inheritance and a loss of FMR1 function.
Mondo Term and Equivalent IDs
MONDO:0010383:  fragile X syndrome
COHD:436803: 
GARD:0006464: 
ICD9:759.83: 
MESH:D005600: 
NCIT:C84717: 
Orphanet:908: 
SCTID:613003: 
UMLS:C0016667: 
GWAS Targets (1)
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
1
1
0
8.1
7
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
0
8.1
7
Disease Hierarchy
Target Novelty (Tin-x)