Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
0.010 GeneticVariation disease BEFREE Here, we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency. 28052552 2017