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GENE - TERM ANNOTATION REPORT

RGD ID: 14056200
Species: Sus scrofa
RGD Object: Gene
Symbol: SIX3
Name: SIX homeobox 3
Acc ID: DOID:0110872
Term: holoprosencephaly 2
Definition: A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10369266 "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)
SIX3 ISOSIX3 (Homo sapiens)7240710OMIM  
SIX3 ISOSIX3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Holoprosencephaly 2 | ClinVar Annotator: match by term: SIX3-related conditionPMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 PMID:15523651 PMID:17001667 PMID:17584896 PMID:18791198 PMID:18989625 PMID:19346217 PMID:19353631 PMID:19431187 PMID:20157829 PMID:20531442 PMID:21940735 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 PMID:32796691 PMID:34008892 PMID:35951005
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