Disease: JOUBERT SYNDROME 21 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 24360803 2014
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 CausalMutation disease CLINVAR Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 24360808 2014
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 Biomarker disease GENOMICS_ENGLAND Mutations in CSPP1 lead to classical Joubert syndrome. 24360807 2014
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		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
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C3810212
Disease: JOUBERT SYNDROME 21
JOUBERT SYNDROME 21 		0.400 GeneticVariation disease CLINVAR