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GENE - TERM ANNOTATION REPORT

RGD ID: 1551568
Species: Mus musculus
RGD Object: Gene
Symbol: Pigv
Name: phosphatidylinositol glycan anchor biosynthesis, class V
Acc ID: DOID:0070433
Term: hyperphosphatasia with impaired intellectual development syndrome 1
Definition: A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/20802478/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/29310717/ "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)
Pigv ISOPIGV (Homo sapiens)243048420RGDDNA:missense mutations:CDS:multiple (human) 
Pigv ISOPIGV (Homo sapiens)7240710OMIM  
Pigv ISOPIGV (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROMEPMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28688840
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