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GENE - TERM ANNOTATION REPORT

RGD ID: 1560642
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mcph1
Name: microcephalin 1
Acc ID: DOID:10907
Term: microcephaly
Definition: A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Microcephaly "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)
Mcph1 ISOMCPH1 (Homo sapiens)9589021RGDDNA:nonsense mutation:cds:p.S25X (human) 
Mcph1 ISOMcph1 (Mus musculus)13204745RGD  
Mcph1no_associationISOMCPH1 (Homo sapiens)13204744RGDDNA:SNP: :c.940G>C (g.37995G>C) (human) 
Mcph1 ISOMCPH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, RecessivePMID:25741868
Mcph1 ISSMcph1 (Mus musculus)13592920MouseDOOMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703 
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