CEP120, centrosomal protein 120, 153241

N. diseases: 153; N. variants: 16
Disease: Joubert syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.500 Biomarker disease GENOMICS_ENGLAND Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 27208211 2016
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.500 GermlineCausalMutation disease ORPHANET Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 27208211 2016