Gene: RPGRIP1L ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		0.140 GeneticVariation disease BEFREE Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation. 29991045 2018
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		0.140 GeneticVariation disease BEFREE NPHP8/RPGRIP1L is a novel ciliary gene that, when mutated, in addition to causing NPHP, also causes Joubert syndrome (JBTS) and Meckel syndrome (MKS). 21689635 2011
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		0.140 GeneticVariation disease BEFREE Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis. 17960139 2007
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		0.140 Biomarker disease BEFREE In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy). 17558409 2007
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		0.140 Biomarker disease HPO