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GENE - TERM ANNOTATION REPORT

CRRD ID: 12236645
Species: Canis lupus familiaris
CRRD Object: Gene
Symbol: EIF2S3
Name: eukaryotic translation initiation factor 2 subunit gamma
Acc ID: DOID:0060801
Term: MEHMO syndrome
Definition: A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12032729, https://www.ncbi.nlm.nih.gov/pubmed/9781023
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)
EIF2S3 ISORGD:13463657240710OMIM  
EIF2S3 ISSRGD:13463659068941ClinVarClinVar Annotator: match by term: MEHMO syndrome

 
EIF2S3 ISSRGD:13463659068941ClinVarClinVar Annotator: match by term: MEHMO syndrome

PMID:23063529, PMID:25741869, PMID:27333055
EIF2S3 ISSRGD:13463659068941ClinVarClinVar Annotator: match by term: Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity

PMID:25741868, PMID:27333055, PMID:28055140
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.