Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 403
Gene Symbol: ARL3
ARL3 		0.300 Biomarker disease GENOMICS_ENGLAND ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. 30269812 2018
Entrez Id: 9731
Gene Symbol: CEP104
CEP104 		0.300 Biomarker disease GENOMICS_ENGLAND Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 26477546 2015
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586 		0.300 Biomarker disease GENOMICS_ENGLAND Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 26437029 2015
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		0.300 Biomarker disease GENOMICS_ENGLAND AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 16453322 2006