Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.900 strong 1.000 9 18 1992 2019
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		disease 0.900 limited 1.000 1 16 1993 2016
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C1876182
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 		disease 0.900 None 1.000 0 1 1924 2007
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.110 None 1.000 0 1 2017 2017