Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
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
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
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
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. 17325173

2007
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene. 17296899

2007
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein. 15776010

2006
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Gene symbol: NDP. Disease: Norrie disease. 17128466

2006
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. 16970763

2006
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT A novel missense Norrie disease mutation associated with a severe ocular phenotype. 15609522

2005
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT NDP gene mutations in 14 French families with Norrie disease. 14635119

2003
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
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
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix. 9407136

1997
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
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
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. 9143918

1997
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome. 8807344

1996
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Mutations in the Norrie disease gene. 7627181

1995
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. 8069314

1994
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene. 7993212

1994
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Characterization of a mutation within the NDP gene in a family with a manifesting female carrier. 8268931

1993
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Mutations in the candidate gene for Norrie disease. 1307245

1992
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
0.800 GeneticVariation UNIPROT Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. 1303264

1992
dbSNP: rs104894877
rs104894877
NDP ; NDP-AS1
C 0.800 CausalMutation CLINVAR