Meckel-Gruber syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis. (Human Disease Ontology, DOID_0050778)
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3 genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
TMEM67 transmembrane protein 67