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 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 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 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 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 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
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease UNIPROT Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families. 8281159 1993
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease 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 		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 Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls. 8252044 1993
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 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 		1.000 GeneticVariation disease UNIPROT NDP gene mutations in 14 French families with Norrie disease. 14635119 2003
Entrez Id: 4693
Gene Symbol: NDP
NDP 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE NDP gene mutations in 14 French families with Norrie disease. 14635119 2003