Gene: CEP41 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 95681
Gene Symbol: CEP41
CEP41 		0.520 GeneticVariation disease BEFREE Homozygous gene-disrupting variants in CEP41 were initially found to be responsible for recessive Joubert syndrome. 30664616 2019
Entrez Id: 95681
Gene Symbol: CEP41
CEP41 		0.520 GermlineCausalMutation disease ORPHANET Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 22246503 2012
Entrez Id: 95681
Gene Symbol: CEP41
CEP41 		0.520 GeneticVariation disease BEFREE Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 22246503 2012
Entrez Id: 95681
Gene Symbol: CEP41
CEP41 		0.520 Biomarker disease GENOMICS_ENGLAND Our data identify CEP41 mutations as a cause of JBTS and implicate tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. 22246503 2012