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GENE - TERM ANNOTATION REPORT

RGD ID: 12304194
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: ANKH
Name: ANKH inorganic pyrophosphate transport regulator
Acc ID: DOID:0080801
Term: autosomal dominant craniometaphyseal dysplasia
Definition: A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/9382103/ "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)
ANKH ISOANKH (Homo sapiens)7240710OMIM  
ANKH ISOANKH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominantPMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:2712793 PMID:28492532 PMID:31130284
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