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GENE - TERM ANNOTATION REPORT

RGD ID: 1552164
Species: Mus musculus
RGD Object: Gene
Symbol: Ahdc1
Name: AT hook, DNA binding motif, containing 1
Acc ID: DOID:0070055
Term: Xia-Gibbs syndrome
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24791903 "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)
Ahdc1 ISOAHDC1 (Homo sapiens)7240710OMIM  
Ahdc1 ISOAHDC1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: AHDC1-related condition | ClinVar Annotator: match by term: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | ClinVar Annotator: match by term: Xia-Gibbs syndromePMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 PMID:25741869 PMID:26350515 PMID:27148574 PMID:28135719 PMID:28492532 PMID:29230160 PMID:29696776 PMID:30152016 PMID:30858058 PMID:31474318 PMID:33372375 PMID:33644933 PMID:35716097 PMID:38177409 PMID:4067559
Ahdc1 IAGP 13592920MouseDOOMIM:615829 
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