|
RPGRIP1L
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
RPGRIP1L
|
0.900 |
Biomarker
|
disease |
MGD |
The ciliary protein Ftm is required for ventricular wall and septal development.
|
23469020 |
2013 |
|
RPGRIP1L
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Molecular characterization of Joubert syndrome in Saudi Arabia.
|
22693042 |
2012 |
|
RPGRIP1L
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
|
RPGRIP1L
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Ftm is a novel basal body protein of cilia involved in Shh signalling.
|
17553904 |
2007 |
|
RPGRIP1L
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
|
17558407 |
2007 |
|
RPGRIP1L
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
|
17558407 |
2007 |
|
RPGRIP1L
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
|
17558409 |
2007 |
|
RPGRIP1L
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
|
17960139 |
2007 |
|
RPGRIP1L
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
|
17558409 |
2007 |
|
RPGRIP1L
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
|
17558409 |
2007 |
|
RPGRIP1L
|
0.900 |
Biomarker
|
disease |
MGD |
Ftm is a novel basal body protein of cilia involved in Shh signalling.
|
17553904 |
2007 |
|
RPGRIP1L
|
0.900 |
Biomarker
|
disease |
MGD |
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
|
17558409 |
2007 |
|
RPGRIP1L
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
RPGRIP1L
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|