Send us a Message

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


RGD ID: 1562269
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nod1
Name: nucleotide-binding oligomerization domain containing 1
Acc ID: DOID:0080735
Term: Ehlers-Danlos syndrome kyphoscoliotic type 2
Definition: An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. (DO)
Definition Source(s): "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)
Nod1 ISONOD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2PMID:28492532
Go Back to source page   Continue to Ontology report