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Human Disease and Mouse Model Detail
Human Disease COACH Syndrome
OMIM ID: 216360
Synonyms Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis; Joubert Syndrome with Congenital Hepatic Fibrosis
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
     Cc2d2a CC2D2A*   1:1 Homology
Rpgrip1l RPGRIP1L*   1:1 Homology
Tmem67 TMEM67*   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
07/23/2014
MGI 5.19
The Jackson Laboratory