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Human Disease and Mouse Model Detail
Human Disease Kabuki Syndrome 1; KABUK1
OMIM ID: 147920
Synonyms Kabuki Make-Up Syndrome; KMS; Kabuki Syndrome; Kabuki Syndrome; Niikawa-Kuroki Syndrome
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Kdm6a KDM6A*   1:1 Homology
Kmt2d KMT2D*   1:1 Homology

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/15/2014
MGI 5.17
The Jackson Laboratory