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 GeneticVariation disease BEFREE Mutations in the Norrie disease pseudoglioma gene (NDP) are known to cause X-linked recessive Norrie disease. 16035034 2005
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease 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 		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 UNIPROT Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype. 8741107 1996
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 GeneticVariation disease UNIPROT Characterization of a mutation within the NDP gene in a family with a manifesting female carrier. 8268931 1993
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 Biomarker disease CLINGEN Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. 1303264 1992
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease CLINVAR
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 Biomarker disease MGD An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. 8789439 1996
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 UNIPROT Mutations in the candidate gene for Norrie disease. 1307245 1992
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease BEFREE In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. 16163268 2005
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
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 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 CLINGEN Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice. 15716406 2005
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 Biomarker disease MGD Vascular defects and sensorineural deafness in a mouse model of Norrie disease. 12040033 2002
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease UNIPROT Mutations in the Norrie disease gene: a new mutation in a Japanese family. 7662640 1995
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease 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 		1.000 Biomarker disease BEFREE This study provides additional evidence that mutations in the same gene can result in FEVR and Norrie disease. 9143917 1997
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 A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease. 8069314 1994