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 		0.610 GeneticVariation disease CLINVAR Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. 23219996 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker disease GENOMICS_ENGLAND These data aid in our understanding of why patients with the BBS3 A89V missense mutation only present with isolated retinitis pigmentosa. 21282186 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker disease GENOMICS_ENGLAND These data aid in our understanding of why patients with the BBS3 A89V missense mutation only present with isolated retinitis pigmentosa. 21282186 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 GeneticVariation disease BEFREE BBS3 mutations can rarely present as nonsyndromic RP. 19956407 2009
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.610 Biomarker disease CTD_human