COACH syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). (Orphanet Rare Disease Ontology, Orphanet_1454)
External Link http://www.omim.org/entry/216360
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Genes

3 genes associated with the COACH syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
CC2D2A coiled-coil and C2 domain containing 2A
RPGRIP1L RPGRIP1-like
TMEM67 transmembrane protein 67