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GENE - TERM ANNOTATION REPORT

RGD ID: 12036619
Species: Pan paniscus
RGD Object: Gene
Symbol: TMEM185A
Name: transmembrane protein 185A
Acc ID: DOID:0060799
Term: syndromic X-linked intellectual disability Lubs type
Definition: A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15689435 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425814 "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)
TMEM185A ISOTMEM185A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs typePMID:22679399 PMID:25741868 PMID:27247049 PMID:27761913 PMID:28257338 PMID:29141583 PMID:30788845
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