PDE6G, phosphodiesterase 6G, 5148

N. diseases: 41; N. variants: 1
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 		0.720 Biomarker disease BEFREE These findings demonstrate the positive role of the gamma subunit in maintaining phosphodiesterase activity and confirm the contribution of PDE6G to the etiology of RP in humans. 20655036 2010
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.720 GeneticVariation disease BEFREE Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes. 9385361 1997
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.720 Biomarker disease MGD
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.720 Biomarker disease CTD_human
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.720 Biomarker disease GENOMICS_ENGLAND