RPGRIP1L, RPGRIP1 like, 23322

N. diseases: 15; N. variants: 38
Disease: COACH syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L. 19574260 2010
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 GermlineCausalMutation disease ORPHANET Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L. 19574260 2010
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 GeneticVariation disease UNIPROT Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L. 19574260 2010
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 17558407 2007
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 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: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease CTD_human
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND