Disease: RETINITIS PIGMENTOSA 37 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2723341
rs2723341
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1970163
Disease:
RETINITIS PIGMENTOSA 37 (disorder) 		C 0.700 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241 2014
dbSNP: rs2723341
rs2723341
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1970163
Disease:
RETINITIS PIGMENTOSA 37 (disorder) 		C 0.700 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405 2014
dbSNP: rs2723341
rs2723341
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1970163
Disease:
RETINITIS PIGMENTOSA 37 (disorder) 		C 0.700 CausalMutation CLINVAR The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. 19273793 2009
dbSNP: rs2723341
rs2723341
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1970163
Disease:
RETINITIS PIGMENTOSA 37 (disorder) 		C 0.700 CausalMutation CLINVAR Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 18294254 2008
dbSNP: rs2723341
rs2723341
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1970163
Disease:
RETINITIS PIGMENTOSA 37 (disorder) 		C 0.700 CausalMutation CLINVAR Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 15459973 2004
dbSNP: rs2723341
rs2723341
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
CUI: C1970163
Disease:
RETINITIS PIGMENTOSA 37 (disorder) 		C 0.700 CausalMutation CLINVAR Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 10655056 2000