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Human Disease and Mouse Model Detail
Human Disease COACH Syndrome
OMIM ID: 216360
Human Phenotype Ontology associations
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

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     CC2D2A* Cc2d2a   HomoloGene and HGNC
RPGRIP1L* Rpgrip1l   HomoloGene and HGNC
TMEM67* Tmem67   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