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GENE - TERM ANNOTATION REPORT

RGD ID: 1319774
Species: Homo sapiens
RGD Object: Gene
Symbol: CYP2U1
Name: cytochrome P450 family 2 subfamily U member 1
Acc ID: DOID:2476
Term: hereditary spastic paraplegia
Definition: A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Familial_spastic_paraplegia "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)
CYP2U1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegiaPMID:25741868 PMID:28492532
CYP2U1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegiaPMID:25741868 PMID:28492532 PMID:29034544
CYP2U1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegiaPMID:25741868 PMID:28492532 PMID:36166872
CYP2U1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegiaPMID:25741868
CYP2U1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hereditary spastic paraplegiaPMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 PMID:33107650
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