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GENE - TERM ANNOTATION REPORT

RGD ID: 18380172
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: NEU1
Name: neuraminidase 1
Acc ID: DOID:3343
Term: glycoproteinosis
Definition: A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Sialidosis "DO" "DO", https://en.wikipedia.org/wiki/Glycoproteinosis "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract "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)
NEU1 ISONEU1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: SialidosisPMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16538002 PMID:16712870 PMID:17576681 PMID:18343720 PMID:19415310 PMID:19568825 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25741868 PMID:26141460 PMID:28492532 PMID:29018767 PMID:29414417 PMID:30023283 PMID:30941624 PMID:32453490 PMID:32472645 PMID:32485644 PMID:32752208 PMID:33502066 PMID:35036219 PMID:9054950 PMID:9536098
NEU1 ISONEU1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: SialidosisPMID:10767332 PMID:10944856 PMID:11063730 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16538002 PMID:16712870 PMID:17576681 PMID:18343720 PMID:19415310 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25741868 PMID:28492532 PMID:30941624 PMID:32453490 PMID:32472645 PMID:32485644 PMID:32752208 PMID:33502066 PMID:35036219 PMID:9054950 PMID:9536098
NEU1 ISONEU1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: SialidosisPMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16361247 PMID:16538002 PMID:16712870 PMID:17576681 PMID:18343720 PMID:19415310 PMID:19568825 PMID:20706754 PMID:21214877 PMID:23291686 PMID:23391804 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25600812 PMID:25741868 PMID:26141460 PMID:28492532 PMID:29018767 PMID:29414417 PMID:30023283 PMID:30548430 PMID:30941624 PMID:31711734 PMID:32453490 PMID:32472645 PMID:32485644 PMID:32752208 PMID:33121223 PMID:33502066 PMID:34421504 PMID:34476202 PMID:34992946 PMID:35036219 PMID:9054950 PMID:9536098
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