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Human Disease and Mouse Model Detail
Human Disease Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma; MEDNIK
OMIM ID: 609313
Synonyms Erythrokeratodermia Variabilis 3; EKV3; Erythrokeratodermia Variabilis, Kamouraska Type
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
     Ap1s1 AP1S1*   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
11/18/2014
MGI 5.20
The Jackson Laboratory