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: 55215
Gene Symbol: FANCI
FANCI
FA complementation group I 0.543 0.731 8.9E-37
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2007 2007
Entrez Id: 84464
Gene Symbol: SLX4
SLX4
SLX4 structure-specific endonuclease subunit 0.565 0.731 1.6E-22
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 1.000 1 0 2011 2011
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
spalt like transcription factor 1 0.539 0.808 1.00
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 0 0
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 0 0
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
T-box transcription factor 3 0.525 0.769 0.99
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 strong 0 0
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
RAD51 paralog C 0.533 0.692 6.2E-14
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 moderate 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM
FA complementation group M 0.543 0.731 2.4E-15
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype 0.300 limited 1.000 1 0 2018 2018