Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease BEFREE A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa. 28453362 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation disease CLINVAR Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. 18509552 2008
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease LHGDN Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. 18509552 2008
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 CausalMutation disease CLINVAR Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. 17924349 2007
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease LHGDN Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. 17924349 2007
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker disease GENOMICS_ENGLAND