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Human Disease and Mouse Model Detail
Human Disease Kabuki Syndrome 1; KABUK1
OMIM ID: 147920
Human Phenotype Ontology associations
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

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     KDM6A* Kdm6a   HomoloGene and HGNC
KMT2D* Kmt2d   HomoloGene and HGNC

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
MGI 6.07
The Jackson Laboratory