RPGRIP1L, RPGRIP1 like, 23322

N. diseases: 170; N. variants: 39
Disease: MECKEL SYNDROME, TYPE 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		0.700 GeneticVariation disease UNIPROT A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 19430481 2009
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 17558407 2007
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		0.700 GeneticVariation disease UNIPROT The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 17558409 2007
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		0.700 Biomarker disease GENOMICS_ENGLAND The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 17558409 2007
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		0.700 Biomarker disease CTD_human
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		0.700 CausalMutation disease CLINVAR
CUI: C1969052
Disease: MECKEL SYNDROME, TYPE 5
MECKEL SYNDROME, TYPE 5 		0.700 GeneticVariation disease CLINVAR