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GENE - TERM ANNOTATION REPORT

RGD ID: 1352608
Species: Homo sapiens
RGD Object: Gene
Symbol: L1CAM
Name: L1 cell adhesion molecule
Acc ID: DOID:9006382
Term: X-Linked Hydrocephalus
Definition: null
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)
L1CAM IAGP 6483012RGDDNA:snps:cds:multiple (human) 
L1CAM ISOL1cam (Mus musculus)6483078RGDC57BL/6J background 
L1CAM ISOL1cam (Rattus norvegicus)14695001RGD  
L1CAM IAGP 7240710OMIM  
L1CAM EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:7920659 PMID:7920660
L1CAM IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aqueductal stenosis, X-linkedPMID:25741868 PMID:9643285
L1CAM IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosisPMID:25741868
L1CAM IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aqueductal stenosis, X-linkedPMID:19846429 PMID:25741868 PMID:31069529
L1CAM IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosisPMID:19846429 PMID:25741868 PMID:28492532
L1CAM IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKEDPMID:19846429 PMID:25741868 PMID:26467025 PMID:26891472 PMID:28492532
L1CAM IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HYDROCEPHALUS, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosisPMID:25741868 PMID:28492532
L1CAM IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosisPMID:10469653 PMID:10767310 PMID:11772994 PMID:25741868 PMID:28492532 PMID:31504653 PMID:32416898 PMID:7920659
L1CAM IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aqueductal stenosis, X-linkedPMID:10797421 PMID:16650080 PMID:25741868 PMID:28492532 PMID:31474318 PMID:7562969 PMID:8929944
L1CAM IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosisPMID:18414213 PMID:28492532
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