Source: GENOMICS_ENGLAND

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: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		disease 0.700 strong 1.000 2 0 2008 2009
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.500 strong 1.000 3 0 2008 2019
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.410 strong 1.000 1 0 2008 2008
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		phenotype 0.300 strong 1.000 2 0 2008 2009
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype 0.300 strong 1.000 1 0 2008 2008