Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. 18509552

2008
Entrez Id: 10210
Gene Symbol: TOPORS
TOPORS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation CLINVAR Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. 17924349

2007