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GENE - TERM ANNOTATION REPORT

RGD ID: 620331
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pafah1b1
Name: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1
Acc ID: DOID:0112237
Term: lissencephaly 1
Definition: A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/11754098/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/12668601/ "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)
Pafah1b1 ISOPAFAH1B1 (Homo sapiens)7240710OMIM  
Pafah1b1 ISOPAFAH1B1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia | ClinVar Annotator: match by term: PAFAH1B1-related condition | ClinVar Annotator: match by term: Subcortical band heterotopiaPMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 PMID:1671808 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29671837
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