Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:FMR1
Fragile X site A |
| gptkbp:associatedWith |
gptkb:Fragile_X_syndrome
Fragile X-associated primary ovarian insufficiency Fragile X-associated tremor/ataxia syndrome |
| gptkbp:discoveredBy |
gptkb:Stephen_T._Warren
|
| gptkbp:discoveredIn |
1991
|
| gptkbp:encodes |
gptkb:FMRP_protein
|
| gptkbp:Entrez_Gene_ID |
2332
|
| gptkbp:expressedIn |
gptkb:testis
brain |
| gptkbp:fullName |
Fragile X mental retardation 1 gene
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
gptkb:HGNC:3775
|
| https://www.w3.org/2000/01/rdf-schema#label |
FRAXA
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:locatedOnChromosome |
Xq27.3
|
| gptkbp:mutationAssociatedWith |
gptkb:autism_spectrum_disorder
intellectual disability developmental delay CGG trinucleotide repeat expansion |
| gptkbp:OMIM |
300624
|
| gptkbp:orthologInMouse |
gptkb:Fmr1
|
| gptkbp:UniProtID |
gptkb:Q06787
|
| gptkbp:bfsParent |
gptkb:FMR1
|
| gptkbp:bfsLayer |
7
|