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GENE - TERM ANNOTATION REPORT

CRRD ID: 8823913
Species: Chinchilla lanigera
CRRD Object: Gene
Symbol: Wnt5a
Name: Wnt family member 5A
Acc ID: DOID:0060766
Term: autosomal dominant Robinow syndrome 1
Definition: A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19918918, https://www.ncbi.nlm.nih.gov/pubmed/24716670
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13532577240710OMIM  
 ISSRGD:13532579068941ClinVarClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1

PMID:18414213
 ISSRGD:13532579068941ClinVarClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1

PMID:18414213, PMID:28492532
 ISSRGD:13532579068941ClinVarClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1

PMID:19918918
 ISSRGD:13532579068941ClinVarClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1

PMID:19918918, PMID:5771504
 ISSRGD:13532579068941ClinVarClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1

PMID:24716670
 ISSRGD:13532579068941ClinVarClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1

PMID:24716670, PMID:25326635, PMID:25741868
 ISSRGD:13532579068941ClinVarClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1

PMID:25741868
 ISSRGD:13532579068941ClinVarClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1

PMID:28492532
 ISSRGD:13532579068941ClinVarClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1

PMID:29276006
 ISSRGD:13532579068941OMIM  
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.