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GENE - TERM ANNOTATION REPORT

RGD ID: 1584365
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mplkip
Name: M-phase specific PLK1 interacting protein
Acc ID: DOID:0050528
Term: nonphotosensitive trichothiodystrophy 4
Definition: A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/trichothiodystrophy "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)
Mplkip ISOMPLKIP (Homo sapiens)7240710OMIM  
Mplkip ISOMPLKIP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Trichothiodystrophy 4, nonphotosensitivePMID:15645389 PMID:1634754 PMID:16977596 PMID:2333887 PMID:24824130 PMID:25290684 PMID:25606444 PMID:25741868 PMID:26880286 PMID:28492532 PMID:4847854 PMID:5645693
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