Source: CLINGEN

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 Biomarker 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
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker CLINGEN Norrie disease: extraocular clinical manifestations in 56 patients. 22786811

2012

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker 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
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker CLINGEN Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. 15035989

2004

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker CLINGEN Vascular defects and sensorineural deafness in a mouse model of Norrie disease. 12040033

2002

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker CLINGEN Norrie disease in a family with a manifesting female carrier. 9109762

1997

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker CLINGEN 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 Biomarker CLINGEN 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 Biomarker CLINGEN An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. 8789439

1996

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

1995

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker CLINGEN Norrie disease gene: characterization of deletions and possible function. 8314592

1993

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker 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
CUI: C0266526
Disease: Norrie disease
Norrie disease
1.000 Biomarker CLINGEN Mutations in the candidate gene for Norrie disease. 1307245

1992