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GENE - TERM ANNOTATION REPORT

RGD ID: 1561763
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Huwe1
Name: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
Acc ID: DOID:0060811
Term: syndromic X-linked intellectual disability Turner type
Definition: A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/18252223 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7943042 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Huwe1 ISOHUWE1 (Homo sapiens)7240710OMIM  
Huwe1 ISOHUWE1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Huwe1 ISOHUWE1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HUWE1-related condition | ClinVar Annotator: match by term: HUWE1-related neurodevelopmental disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE | ClinVar Annotator: match by term: Intellectual disability, X-linked syndromic, Turner typePMID:16700052 PMID:17576681 PMID:18252223 PMID:18414213 PMID:19377476 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:25741869 PMID:25985138 PMID:27130160 PMID:27884935 PMID:28492532 PMID:29118367 PMID:29180823 PMID:30797980 PMID:35887114 PMID:6107045 PMID:7943042 PMID:7943044 PMID:9536098
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