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GENE - TERM ANNOTATION REPORT

RGD ID: 1589491
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sepsecs
Name: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Acc ID: DOID:0060270
Term: pontocerebellar hypoplasia type 2D
Definition: A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. (DO)
Definition Source(s): https://www.omim.org/entry/613811 "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)
Sepsecs ISOSEPSECS (Homo sapiens)7240710OMIM  
Sepsecs ISOSEPSECS (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Sepsecs ISOSEPSECS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2DPMID:12920088 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20920667 PMID:23052947 PMID:23275319 PMID:24305467 PMID:25044680 PMID:25558065 PMID:25590979 PMID:25741868 PMID:25880436 PMID:26115735 PMID:26805434 PMID:26888482 PMID:27175728 PMID:27473727 PMID:27576344 PMID:28492532 PMID:29709707 PMID:31130284 PMID:31589614 PMID:31607746 PMID:31748115 PMID:32214227 PMID:32555262 PMID:33600046 PMID:34234304 PMID:34445196 PMID:35012964 PMID:35091508 PMID:35155316 PMID:36085396 PMID:9536098
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