Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.400 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 24360803 2014
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.400 CausalMutation disease CLINVAR Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1 lead to classical Joubert syndrome. 24360807 2014
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 10565
Gene Symbol: ARFGEF1
ARFGEF1 		0.100 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Entrez Id: 10987
Gene Symbol: COPS5
COPS5 		0.100 CausalMutation disease CLINVAR