Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Moreover, mutations in the gene encoding NDP, a ligand for these Wnt receptors, cause Norrie disease and FEVR. 20340138

2010

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands with ND, and from some of their family members. 17325173

2007

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT All patients diagnosed as having Norrie disease had mutations in the NDP gene. 17296899

2007

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 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

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR. 16970763

2006

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Gene symbol: NDP. Disease: Norrie disease. 17128466

2006

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein. 15776010

2006

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT A novel missense Norrie disease mutation associated with a severe ocular phenotype. 15609522

2005

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT NDP gene mutations in 14 French families with Norrie disease. 14635119

2003

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier. 11337749

2001

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Norrie disease and exudative vitreoretinopathy in families with affected female carriers. 10544980

1999

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 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

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively. 8990009

1997

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix. 9407136

1997

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 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

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. 9143918

1997

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype. 8741107

1996

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome. 8807344

1996

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Mutations in the Norrie disease gene: a new mutation in a Japanese family. 7662640

1995

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif. 8589700

1995

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Mutations in the Norrie disease gene. 7627181

1995

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. 7795608

1995

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. 8069314

1994

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene. 7993212

1994

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 GeneticVariation UNIPROT Characterization of a mutation within the NDP gene in a family with a manifesting female carrier. 8268931

1993