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GENE - TERM ANNOTATION REPORT

RGD ID: 13900973
Species: Sus scrofa
RGD Object: Gene
Symbol: RHOA
Name: ras homolog family member A
Acc ID: DOID:0060852
Term: Pierson syndrome
Definition: A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15367484 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15372515 "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)
RHOA ISORHOA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pierson syndromePMID:15367484 PMID:28492532
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