dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_provenance {
dgn-np:NP738.RA26LSZ6dJdHVGhZ6-KokgQPaJ0tq4ULBFJJFxyn0nJv8130_assertion dcterms:description "[In order to address the possibility of further X chromosomal or autosomal genetic factors in RTT, we evaluated six candidate genes for RTT selected on clinical, pathological, and genetic grounds: UBE1 (human ubiquitin activating enzyme E1, located in chromosome Xp11.23), UBE2I (ubiquitin conjugating enzyme E2I, homologous to yeast UBC9, chromosome 16p13.3), GdX (ubiquitin-like protein, chromosome Xq28), SOX3 (SRY related HMG box gene 3, chromosome Xq26-q27), GABRA3 (gamma-aminobutyric acid type A receptor alpha3 subunit, chromosome Xq28), and CDR2 (cerebellar degeneration related autoantigen 2, chromosome 16p12-p13.1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence dgn-void:source_evidence_curated ;
sio:SIO_000772 miriam-pubmed:10745042 ;
prov:wasDerivedFrom dgn-void:uniprot-2016 ;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:source_evidence_curated a eco:ECO_0000205 ;
rdfs:comment "Gene-disease associations manually curated."@en ;
rdfs:label "DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^
xsd:date .
}