Source: ORPHANET

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: 2652
Gene Symbol: OPN1MW
OPN1MW
opsin 1, medium wave sensitive 0.572 0.769 3.8E-02
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
POC1 centriolar protein B 0.705 0.385 3.0E-08
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.330 None 1.000 1 0 2014 2018
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW
opsin 1, long wave sensitive 0.497 0.808 0.98
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.300 None 1.000 1 0 2010 2010
Entrez Id: 9364
Gene Symbol: RAB28
RAB28
RAB28, member RAS oncogene family 0.792 0.077 2.5E-02
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.340 None 1.000 1 0 2013 2016