Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

CRRD ID: 1352036
Species: Homo sapiens
CRRD Object: Gene
Symbol: NHS
Name: NHS actin remodeling regulator
Acc ID: DOID:0060599
Term: Nance-Horan syndrome
Definition: A X-linked dominant disease that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Nance-Horan_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/2246772, https://www.ncbi.nlm.nih.gov/pubmed/6467651
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)
 IAGP 1598795CRRDDNA:snp, insertion, nonsense mutations:multiple (human)

 
 IAGP 7240710OMIM  
 IAGPRGD:100443038554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:25266737
 IAGPRGD:100485678554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:110876748554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:27159028
 IAGPRGD:132112738554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:27148795
 IAGPRGD:134970278554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:134975718554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:134978218554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:134978768554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:135004748554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:135010628554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:136065738554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:136065748554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:136065758554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:138047808554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:138114758554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:138148128554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:138193318554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:17256798, PMID:18018428, PMID:20882036, PMID:28492532
 IAGPRGD:143957598554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:147014518554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:85621098554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:14564667
 IAGPRGD:85621108554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:14564667, PMID:2246772
 IAGPRGD:85621118554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:14564667
 IAGPRGD:85621128554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:16736028, PMID:458526
 IAGPRGD:85986428554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:14564667, PMID:16736028, PMID:18949062, PMID:24968223, PMID:25741868, PMID:28492532
 IAGPRGD:85986438554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:15623749
 IAGPRGD:86435428554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:86435448554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:86435488554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:23757202, PMID:28492532
 IAGPRGD:86435508554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:86602008554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:86602048554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:25741868, PMID:28492532
 IAGPRGD:86602058554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:86602068554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:96883798554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:28492532
 IAGPRGD:96931148554872ClinVarClinVar Annotator: match by term: Nance-Horan syndrome

PMID:25741868
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.