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GENE - TERM ANNOTATION REPORT

RGD ID: 1320964
Species: Mus musculus
RGD Object: Gene
Symbol: Alx4
Name: aristaless-like homeobox 4
Acc ID: DOID:0060285
Term: parietal foramina
Definition: An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina "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)
Alx4 ISOALX4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:11137991
Alx4 ISOALX4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cranium bifidum occultum 
Alx4 IAGP 13592920MouseDOOMIM:168500 | OMIM:609566 | OMIM:609597 
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