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GENE - TERM ANNOTATION REPORT

RGD ID: 1566425
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tmem199
Name: transmembrane protein 199
Acc ID: DOID:0080561
Term: congenital disorder of glycosylation Ii
Definition: A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12684507 "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)
Tmem199 ISOTMEM199 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital disorders of glycosylation type IIPMID:25741868 PMID:26833330 PMID:28492532 PMID:29321044
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