RPGRIP1L, RPGRIP1 like, 23322

N. diseases: 15; N. variants: 38
Disease: Cerebellar Diseases ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.300 Biomarker group CTD_human The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 17558409 2007
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.300 Biomarker group CTD_human Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 17558407 2007