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GENE - TERM ANNOTATION REPORT

RGD ID: 1311438
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pigh
Name: phosphatidylinositol glycan anchor biosynthesis, class H
Acc ID: DOID:9003249
Term: Glycosylphosphatidylinositol Biosynthesis Defect 17
Definition: An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood.
Definition Source(s): OMIM:618010
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)
Pigh ISOPIGH (Homo sapiens)7240710OMIM  
Pigh ISOPIGH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 | ClinVar Annotator: match by term: PIGH-related conditionPMID:25741868 PMID:29573052 PMID:29603516 PMID:33156547 PMID:35445667
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