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GENE - TERM ANNOTATION REPORT

RGD ID: 71030
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Adnp
Name: activity-dependent neuroprotector homeobox
Acc ID: DOID:0070058
Term: Helsmoortel-Van Der Aa syndrome
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24531329 "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)
Adnp ISOADNP (Homo sapiens)7240710OMIM  
Adnp ISOADNP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Adnp ISOADNP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ADNP-related condition | ClinVar Annotator: match by term: Helsmoortel-Van der Aa SyndromePMID:18414213 PMID:23160955 PMID:24531329 PMID:25057125 PMID:25169753 PMID:25217958 PMID:25363760 PMID:25533962 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28191890 PMID:28221363 PMID:28492532 PMID:28579975 PMID:28675391 PMID:28708303 PMID:29475819 PMID:29724491 PMID:29911927 PMID:30106381 PMID:30564305 PMID:30687093 PMID:31029150 PMID:33004838 PMID:33624935 PMID:35887114
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