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: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease 0.700 strong 0.975 3 0 1992 2020
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1 		disease 0.690 None 0.941 3 0 1985 2018
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C0241391
Disease: Thumb absent
Thumb absent 		phenotype 0.400 strong 1.000 2 0 1991 2004
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		disease 0.400 strong 1.000 2 0 1991 2004
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease 0.400 strong 1.000 2 0 1991 2004
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		disease 0.300 strong 1.000 2 0 1991 2004
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C2751481
Disease: Mild radial hypoplasia
Mild radial hypoplasia 		phenotype 0.300 strong 1.000 2 0 1991 2004
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype 0.300 strong 1.000 1 0 1991 1991