Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 Biomarker disease GENOMICS_ENGLAND Prenatal diagnosis of Norrie disease based on ultrasound findings. 30125416 2019
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 Biomarker disease BEFREE The data suggest that germline truncating mutations in CTNNB1 cause autosomal dominant syndromic FEVR or Norrie disease. 30640974 2019
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 Biomarker disease GENOMICS_ENGLAND A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. 29617172 2018
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 Biomarker disease CLINGEN A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease. 28922694 2018
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE Intragenic deletions including NDP and adjacent genes have been identified in ND patients with a more severe neurologic phenotype. 28742514 2018
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease. 28922694 2018
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE Three brothers with congenital blindness were diagnosed with Norrie disease after genetic analyses indicated the deletion of exon 2 of the NDP gene. 25944760 2015
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE We report the results of causative NDP gene analysis in three male siblings with Norrie disease and describe the associated phenotypes. 25023092 2014
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease. 24801666 2014
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE Norrie disease protein (NDP) gene was found mutated in Norrie disease, in Familial Exudative Vitreoretinopathy, and in Coats syndrome. 23220793 2013
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE To screen mutations in the norrin (NDP) gene in 44 unrelated Chinese patients with familial exudative vitreoretinopathy (FEVR, 38 cases) or Norrie disease (6 cases) and to describe the associated phenotypes. 22563645 2012
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 Biomarker disease CLINGEN Norrie disease: extraocular clinical manifestations in 56 patients. 22786811 2012
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 Biomarker disease BEFREE Haplotype analysis using NDP-linked microsatellites markers was performed in both ND families. 20491809 2010
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease. 21179243 2010
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE Here, we report a family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe ND phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in familial exudative vitreoretinopathy in his carrier mother. 20227630 2010
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE 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 		1.000 GeneticVariation disease BEFREE Mutations in the Norrie Disease gene, Norrie Disease Pseudoglioma (NDP) lead to a phenotypically heterogeneous group of retinopathies. 19373682 2009
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 Biomarker disease BEFREE NDP is the product of the Norrie disease gene and controls vascular development in the retina, inner ear and in the female reproductive system during pregnancy. 18366384 2008
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE 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 		1.000 GeneticVariation disease UNIPROT All patients diagnosed as having Norrie disease had mutations in the NDP gene. 17296899 2007
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE These observations indicate that mutations of the NDP gene can cause ND and 6% of FEVR cases in the Japanese population. 17325173 2007
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE 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