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GENE - TERM ANNOTATION REPORT

RGD ID: 1307251
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pigb
Name: phosphatidylinositol glycan anchor biosynthesis, class B
Acc ID: DOID:0060833
Term: Griscelli syndrome type 2
Definition: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/707528 "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)
Pigb ISOPIGB (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Griscelli syndrome type 2PMID:10835631 PMID:23160464 PMID:28492532
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