|
rs104894868
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
|
1303264 |
1992 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the candidate gene for Norrie disease.
|
1307245 |
1992 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the Norrie disease gene.
|
7627181 |
1995 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.
|
7993212 |
1994 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
|
8069314 |
1994 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.
|
8268931 |
1993 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
|
8807344 |
1996 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
|
9143918 |
1997 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
|
9382152 |
1997 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.
|
9407136 |
1997 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.
|
10484772 |
1999 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NDP gene mutations in 14 French families with Norrie disease.
|
14635119 |
2003 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense Norrie disease mutation associated with a severe ocular phenotype.
|
15609522 |
2005 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.
|
15776010 |
2006 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.
|
16970763 |
2006 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gene symbol: NDP. Disease: Norrie disease.
|
17128466 |
2006 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.
|
17296899 |
2007 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.
|
17325173 |
2007 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.
|
17334993 |
2007 |
|
rs104894868
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
|
20340138 |
2010 |