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 CLINVAR
Entrez Id: 4693
Gene Symbol: NDP
NDP
1.000 CausalMutation disease CLINVAR
Entrez Id: 4693
Gene Symbol: NDP
NDP
1.000 Biomarker disease CTD_human
Entrez Id: 8322
Gene Symbol: FZD4
FZD4
0.350 CausalMutation disease CLINVAR
Entrez Id: 11098
Gene Symbol: PRSS23
PRSS23
0.100 CausalMutation disease CLINVAR
Entrez Id: 23554
Gene Symbol: TSPAN12
TSPAN12
0.100 CausalMutation disease CLINVAR
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 BEFREE NDP gene mutations in 14 French families with Norrie disease. 14635119 2003
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: 4942
Gene Symbol: OAT
OAT
0.020 GeneticVariation disease BEFREE Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus. 1968041 1990
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: 724022
Gene Symbol: MIR652
MIR652
0.010 Biomarker disease BEFREE MiR-652-3p (a circulating miRNA) was downregulated in new diagnosis (ND) patients compared with healthy controls. 29967774 2018
Entrez Id: 406986
Gene Symbol: MIR203A
MIR203A
0.010 AlteredExpression disease BEFREE MiR-203 expression positively correlates with energy expenditure, and overexpression of miR-203 could enhance sub-WAT browning in normal diet (ND) condition. 31327757 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: 4128
Gene Symbol: MAOA
MAOA
0.100 Biomarker disease BEFREE A contig of 16 YACs covering between 2 and 3 Mb has been developed in which the following markers/genes are located (in physical order): Xpter--DXS1201 (256ze5)--DXS6668--DXS228--DXS77--MAOA--++ +MAOB--FR12 (pseudogene)--NDP--DXS6670--RRM2P3--DXS6671--DXS742 --Xcen. 7759098 1995
Entrez Id: 4129
Gene Symbol: MAOB
MAOB
0.100 Biomarker disease BEFREE A contig of 16 YACs covering between 2 and 3 Mb has been developed in which the following markers/genes are located (in physical order): Xpter--DXS1201 (256ze5)--DXS6668--DXS228--DXS77--MAOA--++ +MAOB--FR12 (pseudogene)--NDP--DXS6670--RRM2P3--DXS6671--DXS742 --Xcen. 7759098 1995
Entrez Id: 100420159
Gene Symbol: RRM2P3
RRM2P3
0.010 GeneticVariation disease BEFREE A contig of 16 YACs covering between 2 and 3 Mb has been developed in which the following markers/genes are located (in physical order): Xpter--DXS1201 (256ze5)--DXS6668--DXS228--DXS77--MAOA--++ +MAOB--FR12 (pseudogene)--NDP--DXS6670--RRM2P3--DXS6671--DXS742 --Xcen. 7759098 1995
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.010 AlteredExpression disease BEFREE A markedly increased expression of NLRP3 inflammasome molecules in bone marrow mononuclear cells (BMMCs) from newly diagnosed (ND) patients compared with patients in complete remission (CR) was identified. 29344132 2017
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 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 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 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 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 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 A novel missense Norrie disease mutation associated with a severe ocular phenotype. 15609522 2005